Variant report

Variant	rs12891572
Chromosome Location	chr14:21738262-21738263
allele	C/T
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	MBD4	chr14:21736436-21738477	HepG2	liver:	n/a	n/a
2	TEAD4	chr14:21736198-21738533	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:21737916-21738332	H1-hESC	embryonic stem cell:	n/a	n/a
4	SMC3	chr14:21737406-21738286	HepG2	liver:	n/a	n/a
5	CREB1	chr14:21736959-21738568	HepG2	liver:	n/a	n/a
6	CEBPB	chr14:21737580-21738284	A549	lung:	n/a	chr14:21738093-21738104 chr14:21738094-21738103
7	MYC	chr14:21736535-21738520	NB4	blood:	n/a	chr14:21736997-21737006
8	MYBL2	chr14:21735757-21738673	HepG2	liver:	n/a	chr14:21737687-21737701
9	ZNF143	chr14:21737411-21738284	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F4	chr14:21737451-21738334	MCF10A-Er-Src	breast:	n/a	chr14:21738069-21738086 chr14:21737994-21738006 chr14:21737994-21738003 chr14:21738076-21738083 chr14:21738076-21738083 chr14:21738226-21738235 chr14:21738076-21738083 chr14:21738069-21738086 chr14:21737911-21737920
11	BRCA1	chr14:21737406-21738551	Hela-S3	cervix:	n/a	n/a
12	GTF2F1	chr14:21737263-21738311	K562	blood:	n/a	n/a
13	TBL1XR1	chr14:21736493-21738461	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:21736905-21738441	K562	blood:	n/a	n/a
15	MAX	chr14:21736781-21738457	ECC-1	luminal epithelium:	n/a	chr14:21736997-21737006
16	POLR2A	chr14:21736987-21738332	K562	blood:	n/a	n/a
17	MXI1	chr14:21736372-21738472	Hela-S3	cervix:	n/a	n/a
18	SP4	chr14:21737444-21738280	H1-hESC	embryonic stem cell:	n/a	chr14:21738010-21738026
19	MYC	chr14:21737450-21738474	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr14:21736942-21738549	HepG2	liver:	n/a	n/a
21	HEY1	chr14:21737956-21738286	K562	blood:	n/a	chr14:21737987-21738002
22	CEBPZ	chr14:21737440-21738298	HepG2	liver:	n/a	chr14:21738092-21738103
23	CHD1	chr14:21734912-21738567	IMR90	lung:	n/a	n/a
24	MAZ	chr14:21737372-21738459	GM12878	blood:	n/a	n/a
25	MAX	chr14:21736953-21738512	GM12878	blood:	n/a	chr14:21736997-21737006
26	NFIC	chr14:21736240-21738284	HepG2	liver:	n/a	n/a
27	ZNF384	chr14:21737525-21738672	GM12878	blood:	n/a	n/a
28	MYC	chr14:21736316-21738428	K562	blood:	n/a	chr14:21736997-21737006
29	MAX	chr14:21737537-21738434	A549	lung:	n/a	n/a
30	RFX5	chr14:21738104-21738342	K562	blood:	n/a	n/a
31	NFIC	chr14:21736883-21738474	HepG2	liver:	n/a	n/a
32	TBP	chr14:21737057-21738277	HepG2	liver:	n/a	n/a
33	CREB1	chr14:21737315-21738458	GM12878	blood:	n/a	n/a
34	ELF1	chr14:21737476-21738496	K562	blood:	n/a	chr14:21737978-21737991 chr14:21737888-21737899
35	ZNF143	chr14:21737509-21738306	K562	blood:	n/a	n/a
36	RCOR1	chr14:21737441-21738427	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr14:21737810-21738563	HL-60	blood:	n/a	n/a
38	REST	chr14:21736324-21738570	H1-neurons	neurons:	n/a	n/a
39	SIX5	chr14:21737047-21738532	A549	lung:	n/a	chr14:21737705-21737721 chr14:21737705-21737721 chr14:21737230-21737244 chr14:21737705-21737721
40	POLR2A	chr14:21737853-21738525	GM12891	blood:	n/a	n/a
41	MAX	chr14:21736839-21738406	MCF-7	breast:	n/a	chr14:21736997-21737006
42	POLR2A	chr14:21735190-21738569	GM12891	blood:	n/a	n/a
43	POLR2A	chr14:21735413-21738447	Hela-S3	cervix:	n/a	n/a
44	PBX3	chr14:21736950-21738562	SK-N-SH	brain:	n/a	chr14:21737913-21737933 chr14:21737824-21737833
45	TAF1	chr14:21737155-21738303	H1-neurons	neurons:	n/a	n/a
46	GABPA	chr14:21737356-21738607	HL-60	blood:	n/a	chr14:21737994-21738003
47	RELA	chr14:21737169-21738463	GM19099	blood:	n/a	n/a
48	STAT5A	chr14:21737848-21738425	GM12878	blood:	n/a	chr14:21738314-21738321 chr14:21738095-21738103
49	CEBPB	chr14:21737453-21738296	Hela-S3	cervix:	n/a	chr14:21738093-21738104 chr14:21738094-21738103
50	MAZ	chr14:21737450-21738539	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21731892..21738562-chr14:21850801..21854193,10	MCF-7	breast:
2	chr14:21736434..21738367-chr14:21826392..21828107,2	MCF-7	breast:
3	chr14:21738165..21739837-chr14:21745511..21747672,2	K562	blood:
4	chr14:21736080..21739636-chr14:21765775..21769584,7	MCF-7	breast:
5	chr14:21737810..21738535-chr17:41444968..41445541,2	Hela-S3	cervix:
6	chr1:205718690..205719263-chr14:21737810..21738344,2	Hela-S3	cervix:
7	chr1:151429381..151432201-chr14:21736244..21738881,2	MCF-7	breast:
8	chr14:21698033..21699942-chr14:21736432..21738329,2	MCF-7	breast:
9	chr14:21736489..21738626-chr14:21851688..21853909,3	K562	blood:
10	chr14:21736096..21738321-chr14:38062641..38065635,3	MCF-7	breast:
11	chr14:21737121..21738626-chr14:21850627..21853188,2	K562	blood:

Variant related genes	Relation type
HNRNPC	TF binding region
ENSG00000143442	Chromatin interaction
ENSG00000092201	Chromatin interaction
ENSG00000260830	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000129514	Chromatin interaction
ENSG00000139865	Chromatin interaction
ENSG00000092200	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10130023	0.82[CHB][hapmap];0.87[CHD][hapmap];0.84[ASN][1000 genomes]
rs10132346	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10133006	0.83[ASN][1000 genomes]
rs10152012	0.84[ASN][1000 genomes]
rs11156892	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12050104	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12433590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12878905	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879183	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12894184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17092523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17102712	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17102791	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17113516	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2065094	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065095	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28674952	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28692643	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2874059	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34577271	0.84[ASN][1000 genomes]
rs34715397	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35052312	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35213935	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35473563	0.96[ASN][1000 genomes]
rs4981367	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4982426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4982433	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs4982435	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56770312	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61977465	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61977466	0.84[ASN][1000 genomes]
rs6571733	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6571734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147816	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7148674	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7150185	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs7155313	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7155916	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7156062	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7156266	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7161178	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7161186	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8009700	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011312	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs8018016	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9743612	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking 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	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers 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 target site	29 gene(s)	inside rSNPs	diseases
11	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv901477	chr14:21625262-21750308	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv901478	chr14:21626497-21750308	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv541980	chr14:21672540-21742729	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv541983	chr14:21676221-21742729	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
17	esv1825348	chr14:21691941-21829404	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
18	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
19	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
20	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
21	nsv541987	chr14:21692703-21742729	Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv541989	chr14:21696056-21742729	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
23	nsv541990	chr14:21702771-21757737	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	nsv428617	chr14:21721165-21871164	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
25	nsv983804	chr14:21730434-21759672	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active 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	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12891572	RNASE10	cis	cerebellum	SCAN
rs12891572	PARP2	cis	cerebellum	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21734000-21738400	Active TSS	Right Ventricle	heart
2	chr14:21734000-21738600	Active TSS	Psoas Muscle	Psoas
3	chr14:21734200-21738400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:21734800-21738600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:21735200-21738400	Active TSS	Colonic Mucosa	Colon
6	chr14:21735200-21738400	Active TSS	Left Ventricle	heart
7	chr14:21736200-21738600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr14:21736200-21738600	Active TSS	Brain Angular Gyrus	brain
9	chr14:21736800-21738400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:21737000-21738400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:21737000-21738600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:21737400-21738400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr14:21737600-21738400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:21737800-21738400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:21737800-21738600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr14:21737800-21738600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr14:21737800-21738600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:21737800-21738600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:21737800-21738600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:21737800-21738600	Enhancers	Placenta	Placenta
21	chr14:21737800-21739000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:21737800-21743400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:21738000-21738400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:21738000-21738400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr14:21738000-21738400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr14:21738000-21738400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr14:21738000-21738400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr14:21738000-21738400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:21738000-21738400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:21738000-21738400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:21738000-21738400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr14:21738000-21738400	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr14:21738000-21738400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:21738000-21738400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr14:21738000-21738400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr14:21738000-21738400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:21738000-21738400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr14:21738000-21738400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:21738000-21738400	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr14:21738000-21738400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr14:21738000-21738400	Flanking Active TSS	Fetal Brain Male	brain
42	chr14:21738000-21738400	Flanking Active TSS	Fetal Kidney	kidney
43	chr14:21738000-21738400	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr14:21738000-21738400	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr14:21738000-21738400	Flanking Active TSS	Fetal Thymus	thymus
46	chr14:21738000-21738400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr14:21738000-21738400	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr14:21738000-21738400	Flanking Active TSS	HMEC	breast
49	chr14:21738000-21738400	Flanking Active TSS	HUVEC	blood vessel
50	chr14:21738000-21738400	Flanking Active TSS	NHDF-Ad	bronchial

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