Variant report

Variant	rs930392
Chromosome Location	chr16:30194840-30194841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:201)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:201 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr16:30194806-30194962	GM12878	blood:	n/a	n/a
2	PAX5	chr16:30194637-30197558	GM12878	blood:	n/a	chr16:30197329-30197338 chr16:30196869-30196878 chr16:30196026-30196035
3	POLR2A	chr16:30194019-30195250	MCF-7	breast:	n/a	n/a
4	TBP	chr16:30194800-30194917	K562	blood:	n/a	n/a
5	POLR2A	chr16:30194536-30201400	GM12892	blood:	n/a	n/a
6	BCLAF1	chr16:30194548-30199158	GM12878	blood:	n/a	chr16:30195642-30195655 chr16:30197167-30197180 chr16:30194870-30194879 chr16:30194825-30194838
7	MXI1	chr16:30193804-30196267	SK-N-SH	brain:	n/a	n/a
8	ZBTB7A	chr16:30194069-30195420	ECC-1	luminal epithelium:	n/a	chr16:30194880-30194887
9	POLR2A	chr16:30194265-30195056	ProgFib	skin:	n/a	n/a
10	CCNT2	chr16:30194744-30195127	K562	blood:	n/a	chr16:30194810-30194819
11	RELA	chr16:30194718-30197546	GM18505	blood:	n/a	n/a
12	POLR2A	chr16:30194597-30195070	HEK293	kidney:	n/a	n/a
13	EBF1	chr16:30194534-30194981	GM12878	blood:	n/a	n/a
14	RAD21	chr16:30194629-30194946	SK-N-SH_RA	brain:	n/a	chr16:30194672-30194682
15	MAZ	chr16:30193703-30195182	IMR90	lung:	n/a	chr16:30194669-30194679
16	TAF1	chr16:30194714-30195081	GM12878	blood:	n/a	n/a
17	RCOR1	chr16:30194758-30194938	Hela-S3	cervix:	n/a	n/a
18	CREB1	chr16:30194512-30194954	A549	lung:	n/a	n/a
19	MYC	chr16:30194772-30194972	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr16:30194433-30199926	HL-60	blood:	n/a	n/a
21	SMC3	chr16:30194832-30194991	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr16:30194597-30199808	GM18526	blood:	n/a	n/a
23	CEBPD	chr16:30194616-30195089	HepG2	liver:	n/a	n/a
24	MYC	chr16:30194752-30194874	MCF-7	breast:	n/a	n/a
25	REST	chr16:30194006-30195410	H1-neurons	neurons:	n/a	chr16:30195161-30195174 chr16:30195183-30195196
26	POLR2A	chr16:30194661-30194925	SK-N-SH	brain:	n/a	n/a
27	MYC	chr16:30194605-30195078	NB4	blood:	n/a	chr16:30194669-30194679
28	HA-E2F1	chr16:30194681-30195059	MCF-7	breast:	n/a	n/a
29	RELA	chr16:30194656-30197644	GM12891	blood:	n/a	n/a
30	SIN3A	chr16:30194617-30195093	GM12878	blood:	n/a	n/a
31	POLR2A	chr16:30194590-30195019	HepG2	liver:	n/a	n/a
32	POLR2A	chr16:30194516-30201246	GM12891	blood:	n/a	n/a
33	MAX	chr16:30194652-30194919	K562	blood:	n/a	chr16:30194669-30194679
34	POLR2A	chr16:30194529-30195017	HCT-116	colon:	n/a	n/a
35	TBL1XR1	chr16:30194777-30199078	GM12878	blood:	n/a	n/a
36	SIN3AK20	chr16:30194663-30194897	HepG2	liver:	n/a	n/a
37	POLR2A	chr16:30194598-30199735	GM12891	blood:	n/a	n/a
38	PBX3	chr16:30194579-30195185	SK-N-SH	brain:	n/a	n/a
39	PML	chr16:30193590-30199832	GM12878	blood:	n/a	n/a
40	POLR2A	chr16:30194547-30195096	SK-N-SH	brain:	n/a	n/a
41	MAZ	chr16:30194695-30195043	K562	blood:	n/a	n/a
42	POLR2A	chr16:30194556-30195004	HCT-116	colon:	n/a	n/a
43	ELF1	chr16:30194565-30197800	GM12878	blood:	n/a	chr16:30197326-30197337 chr16:30194896-30194908 chr16:30194807-30194819 chr16:30197325-30197338 chr16:30196025-30196038 chr16:30194895-30194904
44	TAF1	chr16:30194644-30195039	HepG2	liver:	n/a	n/a
45	YY1	chr16:30194671-30194920	SK-N-SH_RA	brain:	n/a	chr16:30194810-30194821
46	POLR2A	chr16:30194707-30194885	A549	lung:	n/a	n/a
47	TAF1	chr16:30194702-30195113	GM12891	blood:	n/a	n/a
48	RUNX3	chr16:30194534-30198984	GM12878	blood:	n/a	n/a
49	POLR2A	chr16:30194588-30194932	SK-N-MC	brain:	n/a	n/a
50	TAF1	chr16:30194667-30194999	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30194815-30194865	PANC-1	pancreas:	n/a
2	chr16:30194815-30194865	HepG2	liver:	n/a
3	chr16:30194815-30194865	PFSK-1	brain:	n/a
4	chr16:30194815-30194865	GM19239	blood:	n/a
5	chr16:30194815-30194865	HCM	heart:	n/a
6	chr16:30194815-30194865	K562	blood:	n/a
7	chr16:30194815-30194865	SK-N-SH	brain:	n/a
8	chr16:30194815-30194865	HRE	kidney:	n/a
9	chr16:30194815-30194865	U87	brain:	n/a
10	chr16:30194815-30194865	Hepatocyte	liver:	n/a
11	chr16:30194815-30194865	AG04449	skin:	fetal
12	chr16:30194815-30194865	HEEpiC	esophagus:	n/a
13	chr16:30194815-30194865	HCT-116	colon:	n/a
14	chr16:30194815-30194865	PrEC	prostate:	n/a
15	chr16:30194815-30194865	AG09309	skin:	n/a
16	chr16:30194815-30194865	SK-N-SH_RA	brain:	n/a
17	chr16:30194815-30194865	IMR90	lung:	fetal
18	chr16:30194815-30194865	Jurkat	blood:	n/a
19	chr16:30194815-30194865	CMK	blood:	n/a
20	chr16:30194815-30194865	NT2-D1	testis:	n/a
21	chr16:30194815-30194865	HRCEpiC	kidney:	n/a
22	chr16:30194815-30194865	MCF-7	breast:	n/a
23	chr16:30194815-30194865	HRPEpiC	eye:	n/a
24	chr16:30194815-30194865	AG04450	lung:	fetal
25	chr16:30194815-30194865	HCPEpiC	choroid plexus:	n/a
26	chr16:30194815-30194865	GM12891	blood:	n/a
27	chr16:30194815-30194865	ProgFib	skin:	n/a
28	chr16:30194815-30194865	AG09319	gingival:	n/a
29	chr16:30194815-30194865	NHDF-neo	bronchial:	n/a
30	chr16:30194815-30194865	HAEpiC	amniotic membrane:	n/a
31	chr16:30194815-30194865	SKMC	muscle:	n/a
32	chr16:30194815-30194865	HL-60	blood:	n/a
33	chr16:30194815-30194865	GM12878	blood:	n/a
34	chr16:30194815-30194865	HMEC	breast:	n/a
35	chr16:30194815-30194865	Hela-S3	cervix:	n/a
36	chr16:30194815-30194865	GM12892	blood:	n/a
37	chr16:30194815-30194865	HPAEpiC	pulmonary alveolar:	n/a
38	chr16:30194815-30194865	NH-A	brain:	n/a
39	chr16:30194815-30194865	NHBE	bronchial:	n/a
40	chr16:30194815-30194865	Caco-2	colon:	n/a
41	chr16:30194815-30194865	BE2_C	brain:	n/a
42	chr16:30194815-30194865	HNPCEpiC	eye:	n/a
43	chr16:30194815-30194865	BJ	skin:	n/a
44	chr16:30194815-30194865	RPTEC	kidney:	n/a
45	chr16:30194815-30194865	GM06990	blood:	n/a
46	chr16:30194815-30194865	ECC-1	luminal epithelium:	n/a
47	chr16:30194815-30194865	ovcar-3	ovarian:	n/a
48	chr16:30194815-30194865	HCF	heart:	n/a
49	chr16:30194815-30194865	HEK293	kidney:	embryo
50	chr16:30194815-30194865	SAEC	small airway:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30099194..30104975-chr16:30193189..30199409,9	MCF-7	breast:
2	chr16:30123508..30126853-chr16:30193449..30196569,3	MCF-7	breast:
3	chr11:60691741..60692731-chr16:30194046..30194929,2	HCT-116	colon:
4	chr16:30194759..30196474-chr16:30708321..30710929,2	K562	blood:
5	chr16:30193615..30195273-chr16:30388746..30390987,2	K562	blood:
6	chr16:30134390..30135940-chr16:30193438..30196422,2	MCF-7	breast:
7	chr16:29815002..29817643-chr16:30193444..30196373,3	MCF-7	breast:
8	chr16:30122202..30125558-chr16:30192872..30196155,3	MCF-7	breast:
9	chr16:30102992..30108322-chr16:30194679..30199860,7	K562	blood:
10	chr16:30194030..30196796-chr16:30455949..30457567,2	K562	blood:
11	chr16:30102283..30103884-chr16:30194608..30196819,2	MCF-7	breast:
12	chr16:30194484..30196796-chr16:30455955..30457567,2	K562	blood:
13	chr16:30132897..30136323-chr16:30193309..30196336,5	MCF-7	breast:
14	chr16:30075111..30080393-chr16:30194482..30199026,7	MCF-7	breast:
15	chr16:30127849..30129805-chr16:30193188..30195789,2	MCF-7	breast:

No data

Variant related genes	Relation type
CORO1A	TF binding region
CORO1A	CpG island
ENSG00000006118	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000102886	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000103495	Chromatin interaction
ENSG00000149922	Chromatin interaction
ENSG00000250616	Chromatin interaction
ENSG00000090238	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000102882	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000261840	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11150585	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1132812	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12102320	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12927190	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13331817	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6565176	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8057425	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1780	chr16:29438907-30213427	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	251 gene(s)	inside rSNPs	diseases
2	nsv932720	chr16:29439269-30197341	Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
3	nsv817565	chr16:29439269-30332014	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS 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	257 gene(s)	inside rSNPs	diseases
4	nsv533011	chr16:29452333-30334631	Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
5	nsv915678	chr16:29478059-30197341	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
6	nsv817450	chr16:29478059-30332014	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	249 gene(s)	inside rSNPs	diseases
7	nsv916456	chr16:29478060-30332569	Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	249 gene(s)	inside rSNPs	diseases
8	esv3368454	chr16:29485699-30225139	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
9	esv3449004	chr16:29486641-30208394	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription 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 miRNA target site	241 gene(s)	inside rSNPs	diseases
10	esv3406689	chr16:29486703-30210584	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	241 gene(s)	inside rSNPs	diseases
11	nsv1057705	chr16:29517699-30306956	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	246 gene(s)	inside rSNPs	diseases
12	nsv1064865	chr16:29517699-30320308	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	246 gene(s)	inside rSNPs	diseases
13	nsv533012	chr16:29577761-30198600	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
14	nsv532923	chr16:29577762-30198600	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised 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	234 gene(s)	inside rSNPs	diseases
15	nsv915682	chr16:29590554-30197341	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
16	nsv916657	chr16:29590554-30332014	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic 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 miRNA target site	244 gene(s)	inside rSNPs	diseases
17	nsv1067735	chr16:29592783-30332581	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	244 gene(s)	inside rSNPs	diseases
18	nsv529109	chr16:29592783-30332581	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS 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 miRNA target site	244 gene(s)	inside rSNPs	diseases
19	nsv916238	chr16:29592791-30332569	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	244 gene(s)	inside rSNPs	diseases
20	nsv1060018	chr16:29600880-30226931	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	241 gene(s)	inside rSNPs	diseases
21	nsv533013	chr16:29612214-30198600	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
22	esv2830413	chr16:29620488-30199507	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
23	nsv916382	chr16:29620689-30332014	Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
24	nsv905714	chr16:29624247-30208614	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
25	nsv431445	chr16:29652488-30328317	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
26	nsv571814	chr16:29655864-30215621	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
27	nsv915550	chr16:29656684-30197341	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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 miRNA target site	227 gene(s)	inside rSNPs	diseases
28	nsv817378	chr16:29656684-30332591	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
29	nsv533014	chr16:29656684-30334631	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
30	nsv1061165	chr16:29657389-30363743	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
31	nsv571815	chr16:29661217-30199679	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
32	nsv948506	chr16:29673203-30320307	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
33	nsv533444	chr16:29673954-30197341	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
34	nsv1067737	chr16:29673954-30198600	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers 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 target site	229 gene(s)	inside rSNPs	diseases
35	nsv532945	chr16:29673954-30198600	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
36	nsv1067742	chr16:29673954-30332581	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
37	nsv533015	chr16:29673954-30332581	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
38	nsv533017	chr16:29673956-30197341	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
39	nsv532947	chr16:29673956-30198600	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
40	nsv533272	chr16:29673967-30332569	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
41	nsv915921	chr16:29694091-30197341	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	225 gene(s)	inside rSNPs	diseases
42	nsv532956	chr16:29855931-30198600	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
43	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
44	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
45	nsv905720	chr16:30066892-30208614	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
46	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
47	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
48	esv3389375	chr16:30140500-30196045	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
49	nsv905721	chr16:30141258-30198151	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
50	nsv571819	chr16:30158757-30215621	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers 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	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs930392	RP11-231C14.3	cis	Muscle Skeletal	GTEx
rs930392	RP11-345J4.5	cis	Muscle Skeletal	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30193800-30195800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr16:30194000-30195000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:30194000-30195000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:30194000-30195000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr16:30194000-30195000	Active TSS	Right Ventricle	heart
6	chr16:30194000-30195200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:30194000-30195400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr16:30194000-30195400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:30194000-30195400	Active TSS	Brain Cingulate Gyrus	brain
10	chr16:30194000-30195400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr16:30194000-30195600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr16:30194000-30195600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:30194000-30195600	Active TSS	Osteobl	bone
14	chr16:30194000-30195800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr16:30194000-30195800	Active TSS	HSMM	muscle
16	chr16:30194000-30196400	Active TSS	Left Ventricle	heart
17	chr16:30194000-30196400	Active TSS	Right Atrium	heart
18	chr16:30194000-30197000	Active TSS	Rectal Smooth Muscle	rectum
19	chr16:30194200-30195000	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr16:30194200-30195000	Active TSS	Aorta	Aorta
21	chr16:30194200-30195000	Active TSS	Esophagus	oesophagus
22	chr16:30194200-30195000	Active TSS	Fetal Lung	lung
23	chr16:30194200-30195000	Active TSS	NHDF-Ad	bronchial
24	chr16:30194200-30195200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:30194200-30195200	Active TSS	Brain Substantia Nigra	brain
26	chr16:30194200-30195200	Active TSS	Ovary	ovary
27	chr16:30194200-30195200	Active TSS	Placenta Amnion	Placenta Amnion
28	chr16:30194200-30195400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:30194200-30195400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr16:30194200-30195400	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr16:30194200-30195400	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr16:30194200-30195400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr16:30194200-30195400	Active TSS	NHLF	lung
34	chr16:30194200-30195600	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr16:30194200-30195600	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr16:30194200-30196800	Active TSS	Gastric	stomach
37	chr16:30194200-30197200	Active TSS	Brain Anterior Caudate	brain
38	chr16:30194200-30197200	Active TSS	Small Intestine	intestine
39	chr16:30194200-30197600	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr16:30194400-30195000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr16:30194400-30195000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:30194400-30195000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr16:30194400-30195000	Active TSS	Primary hematopoietic stem cells	blood
44	chr16:30194400-30195000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:30194400-30195000	Active TSS	Muscle Satellite Cultured Cells	--
46	chr16:30194400-30195000	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr16:30194400-30195000	Active TSS	Lung	lung
48	chr16:30194400-30195000	Active TSS	Pancreas	Pancrea
49	chr16:30194400-30195000	Active TSS	Psoas Muscle	Psoas
50	chr16:30194400-30195000	Active TSS	Stomach Smooth Muscle	stomach

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