Variant report

Variant	rs4880078
Chromosome Location	chr9:139844953-139844954
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr9:139844024-139845067	A549	lung:	n/a	n/a
2	MAX	chr9:139844055-139845233	A549	lung:	n/a	chr9:139844589-139844602 chr9:139844591-139844600 chr9:139844589-139844602 chr9:139844303-139844313 chr9:139844710-139844719 chr9:139844590-139844601
3	ZNF263	chr9:139843675-139845362	HEK293-T-REx	kidney:	n/a	chr9:139843943-139843952 chr9:139844659-139844668 chr9:139844342-139844351
4	HEY1	chr9:139844151-139845039	HepG2	liver:	n/a	chr9:139844647-139844662 chr9:139844481-139844496 chr9:139844638-139844653
5	POLR2A	chr9:139843711-139845400	Hela-S3	cervix:	n/a	n/a
6	MYBL2	chr9:139844093-139845067	HepG2	liver:	n/a	n/a
7	EP300	chr9:139844143-139844976	ECC-1	luminal epithelium:	n/a	chr9:139844536-139844545 chr9:139844770-139844786
8	MXI1	chr9:139844137-139844973	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr9:139843201-139846381	HepG2	liver:	n/a	n/a
10	REST	chr9:139843744-139845440	H1-neurons	neurons:	n/a	chr9:139844272-139844286 chr9:139844631-139844651 chr9:139844123-139844143 chr9:139844274-139844284 chr9:139845268-139845277 chr9:139844242-139844255 chr9:139844635-139844648
11	USF1	chr9:139843991-139845114	HCT-116	colon:	n/a	chr9:139844589-139844600 chr9:139844591-139844600 chr9:139844633-139844649 chr9:139844590-139844599 chr9:139844585-139844606 chr9:139844592-139844601 chr9:139844591-139844600 chr9:139844733-139844749 chr9:139844589-139844602
12	PML	chr9:139844090-139845009	GM12878	blood:	n/a	n/a
13	TAF1	chr9:139844244-139845038	H1-neurons	neurons:	n/a	n/a
14	HDAC2	chr9:139844066-139845462	MCF-7	breast:	n/a	n/a
15	ZBTB7A	chr9:139844438-139845133	K562	blood:	n/a	n/a
16	EP300	chr9:139843978-139845167	ECC-1	luminal epithelium:	n/a	chr9:139844536-139844545 chr9:139844770-139844786
17	USF1	chr9:139844178-139845081	HCT-116	colon:	n/a	chr9:139844589-139844600 chr9:139844591-139844600 chr9:139844633-139844649 chr9:139844590-139844599 chr9:139844585-139844606 chr9:139844592-139844601 chr9:139844591-139844600 chr9:139844733-139844749 chr9:139844589-139844602
18	HMGN3	chr9:139844230-139845131	K562	blood:	n/a	n/a
19	POLR2A	chr9:139843957-139845542	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr9:139844146-139845037	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr9:139844080-139845112	ECC-1	luminal epithelium:	n/a	n/a
22	HEY1	chr9:139843992-139845621	HepG2	liver:	n/a	chr9:139844647-139844662 chr9:139844481-139844496 chr9:139844638-139844653
23	BHLHE40	chr9:139844223-139845013	K562	blood:	n/a	chr9:139844591-139844600 chr9:139844633-139844649 chr9:139844590-139844599 chr9:139844585-139844606 chr9:139844592-139844601 chr9:139844591-139844600 chr9:139844733-139844749 chr9:139844589-139844602
24	SMARCB1	chr9:139843739-139845506	Hela-S3	cervix:	n/a	n/a
25	MAX	chr9:139843531-139845365	A549	lung:	n/a	chr9:139844589-139844602 chr9:139844591-139844600 chr9:139844589-139844602 chr9:139844303-139844313 chr9:139844710-139844719 chr9:139844590-139844601
26	POLR2A	chr9:139844228-139844977	GM18505	blood:	n/a	n/a
27	USF1	chr9:139844180-139844987	K562	blood:	n/a	chr9:139844589-139844600 chr9:139844591-139844600 chr9:139844633-139844649 chr9:139844590-139844599 chr9:139844585-139844606 chr9:139844592-139844601 chr9:139844591-139844600 chr9:139844733-139844749 chr9:139844589-139844602
28	SMARCC1	chr9:139844112-139845245	Hela-S3	cervix:	n/a	n/a
29	MAZ	chr9:139844149-139845061	K562	blood:	n/a	chr9:139844589-139844602 chr9:139844591-139844600 chr9:139844589-139844602 chr9:139844303-139844313 chr9:139844710-139844719 chr9:139844590-139844601
30	MAX	chr9:139844149-139845161	K562	blood:	n/a	chr9:139844589-139844602 chr9:139844591-139844600 chr9:139844589-139844602 chr9:139844303-139844313 chr9:139844710-139844719 chr9:139844590-139844601
31	MAX	chr9:139844206-139845419	Hela-S3	cervix:	n/a	chr9:139844589-139844602 chr9:139844591-139844600 chr9:139844589-139844602 chr9:139844303-139844313 chr9:139844710-139844719 chr9:139844590-139844601
32	ZBTB7A	chr9:139843980-139845239	ECC-1	luminal epithelium:	n/a	n/a
33	YY1	chr9:139844188-139845089	HepG2	liver:	n/a	chr9:139845072-139845083 chr9:139844537-139844551
34	NFIC	chr9:139844062-139844991	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr9:139844130-139845053	H1-hESC	embryonic stem cell:	n/a	chr9:139844589-139844602 chr9:139844591-139844600 chr9:139844589-139844602 chr9:139844303-139844313 chr9:139844710-139844719 chr9:139844590-139844601
36	CREB1	chr9:139843555-139845349	HepG2	liver:	n/a	n/a
37	POLR2A	chr9:139844250-139845376	HCT-116	colon:	n/a	n/a
38	TFAP2A	chr9:139844252-139845466	Hela-S3	cervix:	n/a	chr9:139844479-139844490 chr9:139844769-139844781 chr9:139844810-139844824 chr9:139844769-139844781 chr9:139844812-139844822 chr9:139844770-139844781 chr9:139844812-139844822
39	MAX	chr9:139844100-139844982	ECC-1	luminal epithelium:	n/a	chr9:139844589-139844602 chr9:139844591-139844600 chr9:139844589-139844602 chr9:139844303-139844313 chr9:139844710-139844719 chr9:139844590-139844601
40	MAZ	chr9:139844113-139845029	GM12878	blood:	n/a	chr9:139844589-139844602 chr9:139844591-139844600 chr9:139844589-139844602 chr9:139844303-139844313 chr9:139844710-139844719 chr9:139844590-139844601
41	POLR2A	chr9:139843973-139845139	A549	lung:	n/a	n/a
42	NR2F2	chr9:139843999-139845523	MCF-7	breast:	n/a	n/a
43	MAX	chr9:139843676-139845471	MCF-7	breast:	n/a	chr9:139844589-139844602 chr9:139845445-139845455 chr9:139844591-139844600 chr9:139844589-139844602 chr9:139844303-139844313 chr9:139844710-139844719 chr9:139844590-139844601
44	POLR2A	chr9:139844907-139844989	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUN	chr9:139844031-139845316	K562	blood:	n/a	n/a
46	TCF12	chr9:139844026-139845113	ECC-1	luminal epithelium:	n/a	chr9:139845047-139845057 chr9:139844776-139844786
47	NFYA	chr9:139844179-139845041	Hela-S3	cervix:	n/a	chr9:139844604-139844616
48	NFYB	chr9:139844163-139845296	K562	blood:	n/a	chr9:139844602-139844617 chr9:139844604-139844616
49	POLR2A	chr9:139843995-139845400	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr9:139844020-139845046	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:139741884..139743712-chr9:139842627..139845556,4	MCF-7	breast:
2	chr9:139843021..139845836-chr9:139846843..139848545,2	K562	blood:
3	chr9:139842377..139845923-chr9:139939080..139942465,6	MCF-7	breast:
4	chr9:139843096..139845077-chr9:139874419..139875996,2	K562	blood:
5	chr9:139841985..139846327-chr9:139875508..139880293,6	MCF-7	breast:
6	chr10:50746997..50747720-chr9:139844721..139845394,2	Hela-S3	cervix:
7	chr9:139842911..139846043-chr9:139877462..139880780,4	MCF-7	breast:
8	chr9:139844430..139846509-chr9:139867004..139868597,2	MCF-7	breast:
9	chr9:139699496..139701680-chr9:139843463..139845874,2	MCF-7	breast:
10	chr9:139843553..139845342-chr9:140116924..140119676,2	MCF-7	breast:
11	chr9:139836105..139846821-chr9:139919094..139924819,24	MCF-7	breast:
12	chr9:139836188..139848313-chr9:139883522..139894647,40	MCF-7	breast:
13	chr9:139844664..139846900-chr9:139871545..139874035,2	K562	blood:
14	chr9:139844553..139846571-chr9:139915265..139916966,2	MCF-7	breast:
15	chr9:139842871..139845268-chr9:140134564..140137033,2	K562	blood:
16	chr9:139792836..139799400-chr9:139842261..139846047,7	MCF-7	breast:
17	chr9:139742564..139744114-chr9:139842941..139845499,2	K562	blood:
18	chr17:66315085..66315989-chr9:139844633..139845280,2	MCF-7	breast:
19	chr9:139758319..139759989-chr9:139844595..139846136,2	K562	blood:
20	chr9:139835281..139842012-chr9:139842308..139848601,13	K562	blood:
21	chr9:139842440..139845608-chr9:139845661..139851377,6	K562	blood:
22	chr9:139842605..139846336-chr9:139889751..139893844,5	K562	blood:
23	chr17:29297822..29298494-chr9:139844631..139845132,2	Hela-S3	cervix:
24	chr9:139835507..139852162-chr9:139884980..139895056,54	MCF-7	breast:
25	chr9:139842379..139846255-chr9:139920435..139923708,4	MCF-7	breast:
26	chr17:41465225..41466104-chr9:139844451..139845202,2	Hela-S3	cervix:
27	chr9:139843163..139846708-chr9:139847303..139850951,4	MCF-7	breast:

Variant related genes	Relation type
LCN12	TF binding region
ENSG00000258838	Chromatin interaction
ENSG00000176919	Chromatin interaction
ENSG00000148362	Chromatin interaction
ENSG00000180539	Chromatin interaction
ENSG00000159069	Chromatin interaction
ENSG00000213213	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000214402	Chromatin interaction
ENSG00000107281	Chromatin interaction
ENSG00000184925	Chromatin interaction
ENSG00000169583	Chromatin interaction
ENSG00000197191	Chromatin interaction
ENSG00000127191	Chromatin interaction
ENSG00000273066	Chromatin interaction
ENSG00000181481	Chromatin interaction
ENSG00000107317	Chromatin interaction
ENSG00000054148	Chromatin interaction
ENSG00000225830	Chromatin interaction
ENSG00000107331	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10115595	0.90[JPT][hapmap]
rs10116414	0.90[JPT][hapmap];0.82[YRI][hapmap]
rs11145948	0.86[CHB][hapmap];0.90[CHD][hapmap]
rs11145949	0.85[ASN][1000 genomes]
rs11145951	0.80[CHB][hapmap];0.85[CHD][hapmap];0.82[ASN][1000 genomes]
rs12379667	0.82[ASN][1000 genomes]
rs13289286	0.83[ASN][1000 genomes]
rs13292961	0.84[ASN][1000 genomes]
rs2271868	0.86[CHB][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2271869	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2271872	0.83[ASN][1000 genomes]
rs28578007	0.86[ASN][1000 genomes]
rs4542025	0.84[ASN][1000 genomes]
rs4880172	0.90[JPT][hapmap]
rs6560652	0.90[JPT][hapmap]
rs7040970	0.86[CHB][hapmap];0.90[CHD][hapmap];0.85[ASN][1000 genomes]
rs7862602	0.84[ASN][1000 genomes]
rs868102	0.93[ASW][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.87[LWK][hapmap];0.85[MKK][hapmap];0.80[TSI][hapmap];0.81[YRI][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs884112	0.85[YRI][hapmap]
rs885070	0.85[ASN][1000 genomes]
rs908833	0.93[ASW][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.82[LWK][hapmap];0.85[MKK][hapmap];0.80[TSI][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs908839	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs925936	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv540342	chr9:139218422-139973312	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	317 gene(s)	inside rSNPs	diseases
2	nsv469918	chr9:139254317-140068342	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
3	nsv540346	chr9:139360142-140164011	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	471 gene(s)	inside rSNPs	diseases
4	nsv1039149	chr9:139376829-139991102	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	303 gene(s)	inside rSNPs	diseases
5	esv1803979	chr9:139395473-139979276	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	267 gene(s)	inside rSNPs	diseases
6	esv1831778	chr9:139395473-139979276	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	267 gene(s)	inside rSNPs	diseases
7	esv1821575	chr9:139395473-140068342	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
8	esv2422220	chr9:139478587-140244550	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	454 gene(s)	inside rSNPs	diseases
9	nsv894409	chr9:139483954-139860264	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	209 gene(s)	inside rSNPs	diseases
10	nsv894432	chr9:139522101-139869914	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	205 gene(s)	inside rSNPs	diseases
11	nsv894441	chr9:139544437-139860264	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
12	nsv894442	chr9:139544437-140462099	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
13	nsv894451	chr9:139598108-139995065	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	200 gene(s)	inside rSNPs	diseases
14	nsv894452	chr9:139598108-140523429	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
15	nsv894454	chr9:139607966-139904037	Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	172 gene(s)	inside rSNPs	diseases
16	nsv894455	chr9:139607966-140411547	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	417 gene(s)	inside rSNPs	diseases
17	nsv818738	chr9:139634495-139904037	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	126 gene(s)	inside rSNPs	diseases
18	nsv894461	chr9:139683224-139860264	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
19	nsv894462	chr9:139683224-140274164	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	353 gene(s)	inside rSNPs	diseases
20	nsv894463	chr9:139683224-140411547	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
21	nsv524322	chr9:139690144-140376668	Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	371 gene(s)	inside rSNPs	diseases
22	nsv894468	chr9:139693992-139860264	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
23	nsv894469	chr9:139693992-140118448	Bivalent Enhancer Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	200 gene(s)	inside rSNPs	diseases
24	nsv894470	chr9:139693992-140339091	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	358 gene(s)	inside rSNPs	diseases
25	nsv894474	chr9:139694521-140432318	Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
26	nsv540352	chr9:139695108-140351178	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	358 gene(s)	inside rSNPs	diseases
27	nsv894482	chr9:139709976-139860264	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	78 gene(s)	inside rSNPs	diseases
28	nsv894483	chr9:139709976-139963091	Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	119 gene(s)	inside rSNPs	diseases
29	nsv894484	chr9:139709976-140382705	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	360 gene(s)	inside rSNPs	diseases
30	nsv894485	chr9:139709976-140408904	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
31	nsv894486	chr9:139725120-140382705	Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	359 gene(s)	inside rSNPs	diseases
32	nsv894487	chr9:139725120-140449582	Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
33	nsv1047479	chr9:139754184-139869440	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	60 gene(s)	inside rSNPs	diseases
34	nsv540353	chr9:139754184-139869440	Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	60 gene(s)	inside rSNPs	diseases
35	esv1803771	chr9:139776400-140274255	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
36	nsv894498	chr9:139810595-140339091	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	324 gene(s)	inside rSNPs	diseases
37	nsv894499	chr9:139810595-140734161	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
38	esv1823828	chr9:139820363-140023694	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	121 gene(s)	inside rSNPs	diseases
39	esv1822764	chr9:139822266-140202692	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	313 gene(s)	inside rSNPs	diseases
40	nsv894500	chr9:139823670-139930945	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
41	nsv894501	chr9:139823670-140400275	Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
42	nsv894502	chr9:139823670-140487108	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
43	nsv894503	chr9:139830940-139987350	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
44	nsv894505	chr9:139831696-139848717	Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
45	esv1834381	chr9:139834195-140031290	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	125 gene(s)	inside rSNPs	diseases
46	esv1823555	chr9:139834714-140362439	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
47	nsv894506	chr9:139841512-140143801	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	278 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4880078	RP11-229P13.19	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139843400-139845000	Active TSS	Thymus	Thymus
2	chr9:139843600-139845000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr9:139843600-139845000	Active TSS	HepG2	liver
4	chr9:139843600-139845200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr9:139843600-139845200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr9:139843600-139845200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr9:139843600-139845200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr9:139843600-139845400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:139843600-139845400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr9:139843600-139845400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:139843800-139845000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr9:139843800-139845000	Active TSS	Aorta	Aorta
13	chr9:139843800-139845000	Active TSS	Brain Substantia Nigra	brain
14	chr9:139843800-139845000	Active TSS	Colon Smooth Muscle	Colon
15	chr9:139843800-139845200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr9:139843800-139845200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:139843800-139845200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr9:139843800-139845200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr9:139843800-139845400	Active TSS	Rectal Smooth Muscle	rectum
20	chr9:139843800-139845400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr9:139843800-139845400	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr9:139844000-139845000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:139844000-139845000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr9:139844000-139845000	Active TSS	Brain Anterior Caudate	brain
25	chr9:139844000-139845000	Active TSS	Brain Germinal Matrix	brain
26	chr9:139844000-139845000	Active TSS	Duodenum Mucosa	Duodenum
27	chr9:139844000-139845000	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr9:139844000-139845000	Weak transcription	Fetal Brain Male	brain
29	chr9:139844000-139845000	Active TSS	Fetal Intestine Large	intestine
30	chr9:139844000-139845000	Active TSS	Fetal Kidney	kidney
31	chr9:139844000-139845000	Active TSS	Left Ventricle	heart
32	chr9:139844000-139845000	Active TSS	Psoas Muscle	Psoas
33	chr9:139844000-139845000	Active TSS	Small Intestine	intestine
34	chr9:139844000-139845200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:139844000-139845200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:139844000-139845200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr9:139844000-139845200	Active TSS	Fetal Brain Female	brain
38	chr9:139844000-139845200	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr9:139844000-139845200	Active TSS	Gastric	stomach
40	chr9:139844400-139845200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr9:139844400-139845200	Transcr. at gene 5' and 3'	Right Atrium	heart
42	chr9:139844400-139845400	Flanking Active TSS	Colonic Mucosa	Colon
43	chr9:139844600-139845000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:139844600-139845000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:139844600-139845000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr9:139844600-139845000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
47	chr9:139844600-139845000	Flanking Active TSS	Stomach Mucosa	stomach
48	chr9:139844600-139845000	Flanking Active TSS	HMEC	breast
49	chr9:139844600-139845000	Flanking Active TSS	HSMM	muscle
50	chr9:139844600-139845000	Flanking Active TSS	NH-A	brain

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