Variant report

Variant	rs7795944
Chromosome Location	chr7:149571466-149571467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:149569748-149573089	HepG2	liver:	n/a	n/a
2	MAX	chr7:149569710-149571542	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr7:149571440-149571590	HepG2	liver:	n/a	chr7:149571514-149571532 chr7:149571516-149571537
4	MAX	chr7:149569412-149571499	HCT-116	colon:	n/a	n/a
5	KAP1	chr7:149569495-149571869	HEK293	kidney:	n/a	n/a
6	HA-E2F1	chr7:149569841-149571699	MCF-7	breast:	n/a	chr7:149570943-149570952
7	POLR2A	chr7:149570397-149572300	HepG2	liver:	n/a	n/a
8	ZEB1	chr7:149570380-149571492	GM12878	blood:	n/a	chr7:149571407-149571418 chr7:149571406-149571418
9	POLR2A	chr7:149569862-149571496	GM18951	blood:	n/a	n/a
10	BHLHE40	chr7:149570710-149572354	HepG2	liver:	n/a	n/a
11	MAX	chr7:149569661-149571515	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:149569772-149571646	H1-neurons	neurons:	n/a	n/a
13	HMGN3	chr7:149569898-149571488	K562	blood:	n/a	n/a
14	GABPA	chr7:149570400-149571514	K562	blood:	n/a	n/a
15	E2F6	chr7:149569637-149571467	H1-hESC	embryonic stem cell:	n/a	chr7:149570943-149570952
16	POLR2A	chr7:149569825-149571664	GM18505	blood:	n/a	n/a
17	CTCF	chr7:149571400-149571550	WERI-Rb-1	eye:	n/a	chr7:149571514-149571532 chr7:149571516-149571537
18	GATA2	chr7:149569903-149572183	SH-SY5Y	brain:	n/a	chr7:149570110-149570118
19	MAX	chr7:149569509-149571501	A549	lung:	n/a	n/a
20	JUND	chr7:149571464-149571677	K562	blood:	n/a	n/a
21	CTCF	chr7:149571360-149571510	GM12865	blood:	n/a	n/a
22	MAX	chr7:149569793-149572363	HepG2	liver:	n/a	n/a
23	POLR2A	chr7:149569563-149571467	PFSK-1	brain:	n/a	n/a
24	SIN3AK20	chr7:149571256-149571576	H1-hESC	embryonic stem cell:	n/a	n/a
25	RCOR1	chr7:149569424-149571957	K562	blood:	n/a	n/a
26	CTCF	chr7:149571340-149571490	GM12873	blood:	n/a	n/a
27	MAX	chr7:149570604-149571648	H1-hESC	embryonic stem cell:	n/a	n/a
28	RELA	chr7:149570790-149571800	GM18951	blood:	n/a	n/a
29	POLR2A	chr7:149569887-149571472	GM18526	blood:	n/a	n/a
30	TBL1XR1	chr7:149569440-149571740	K562	blood:	n/a	n/a
31	MXI1	chr7:149569482-149571542	IMR90	lung:	n/a	chr7:149570057-149570072
32	RCOR1	chr7:149570448-149571565	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:149569890-149571595	GM19193	blood:	n/a	n/a
34	TAF1	chr7:149570411-149571639	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr7:149570332-149571606	GM12892	blood:	n/a	n/a
36	BRCA1	chr7:149571389-149571516	HepG2	liver:	n/a	n/a
37	NRF1	chr7:149569462-149572265	SK-N-SH	brain:	n/a	chr7:149571009-149571020
38	PML	chr7:149570354-149571612	GM12878	blood:	n/a	n/a
39	ELF1	chr7:149570299-149571590	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:149569859-149571554	GM15510	blood:	n/a	n/a
41	YY1	chr7:149570270-149571524	HepG2	liver:	n/a	n/a
42	CTBP2	chr7:149570363-149571713	H1-hESC	embryonic stem cell:	n/a	n/a
43	TCF12	chr7:149570240-149571594	ECC-1	luminal epithelium:	n/a	n/a
44	MAX	chr7:149569611-149571507	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr7:149569470-149571824	K562	blood:	n/a	n/a
46	POLR2A	chr7:149569779-149571467	GM19099	blood:	n/a	n/a
47	POLR2A	chr7:149569704-149572352	HepG2	liver:	n/a	n/a
48	SIN3AK20	chr7:149569664-149571523	MCF-7	breast:	n/a	n/a
49	MAFK	chr7:149571464-149572018	HepG2	liver:	n/a	n/a
50	POLR2A	chr7:149569714-149571467	H1-neurons	neurons:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:149570793..149573386-chr7:149577095..149580560,3	K562	blood:
2	chr7:149320936..149323357-chr7:149569430..149571790,2	K562	blood:
3	chr7:149470006..149471576-chr7:149569800..149572611,2	MCF-7	breast:
4	chr7:149552958..149556692-chr7:149569431..149572325,5	MCF-7	breast:
5	chr17:7742656..7744593-chr7:149569893..149571765,2	MCF-7	breast:
6	chr7:149534869..149537140-chr7:149569608..149571872,2	MCF-7	breast:
7	chr7:149570954..149573807-chr7:150065336..150068583,3	MCF-7	breast:
8	chr7:149570103..149572096-chr7:150064199..150066897,3	MCF-7	breast:
9	chr7:149569895..149574234-chr7:149575186..149579607,5	K562	blood:

No data

Variant related genes	Relation type
ATP6V0E2-AS1	TF binding region
ATP6V0E2	TF binding region
ENSG00000132510	Chromatin interaction
ENSG00000273293	Chromatin interaction
ENSG00000106479	Chromatin interaction
ENSG00000196456	Chromatin interaction
ENSG00000214022	Chromatin interaction
ENSG00000181444	Chromatin interaction
ENSG00000133624	Chromatin interaction
ENSG00000204934	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10255120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12673849	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4077893	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799802	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv831184	chr7:149424835-149600093	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv2758139	chr7:149441590-149956415	Strong transcription Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	esv2759571	chr7:149441590-149956415	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv521861	chr7:149458623-149582906	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv889409	chr7:149458623-149585379	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv1029471	chr7:149496177-149810381	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv539193	chr7:149496177-149810381	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv1033095	chr7:149508083-149781872	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv1029484	chr7:149539914-149599326	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	esv2753117	chr7:149546703-149806076	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	esv2757242	chr7:149546703-149906047	Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv889413	chr7:149547703-149610781	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS 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	26 gene(s)	inside rSNPs	diseases
17	nsv889414	chr7:149547703-149643233	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
18	nsv889415	chr7:149547703-149643233	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Flanking Active 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 target site	26 gene(s)	inside rSNPs	diseases
19	nsv889416	chr7:149547703-149656318	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh 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	26 gene(s)	inside rSNPs	diseases
20	nsv889417	chr7:149547703-149658257	Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
21	nsv889418	chr7:149547703-149658257	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
22	nsv889419	chr7:149547703-149671262	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
23	nsv889420	chr7:149547703-149700526	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
24	nsv889421	chr7:149547703-149741002	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active 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 target site	30 gene(s)	inside rSNPs	diseases
25	nsv889422	chr7:149547703-149776603	Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
26	nsv889423	chr7:149547703-149838371	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
27	nsv889424	chr7:149547703-149865912	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
28	nsv8229	chr7:149549787-149882563	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
29	nsv519323	chr7:149551993-149582906	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
30	nsv465205	chr7:149551993-149583170	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription 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	25 gene(s)	inside rSNPs	diseases
31	nsv465207	chr7:149551993-149583170	Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
32	nsv465208	chr7:149551993-149583170	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
33	nsv608988	chr7:149551993-149583170	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
34	nsv465209	chr7:149551993-149585379	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
35	nsv465210	chr7:149551993-149585379	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
36	nsv608989	chr7:149551993-149585379	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription 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	25 gene(s)	inside rSNPs	diseases
37	nsv889425	chr7:149551993-149643233	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
38	nsv889426	chr7:149551993-149658257	Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS 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 target site	26 gene(s)	inside rSNPs	diseases
39	nsv889427	chr7:149551993-149683508	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
40	nsv889428	chr7:149551993-149857558	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
41	nsv1022103	chr7:149552534-149681561	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS 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	26 gene(s)	inside rSNPs	diseases
42	nsv1028178	chr7:149552534-149726806	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
43	nsv889429	chr7:149553819-149647469	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
44	nsv889430	chr7:149553819-149656318	Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
45	nsv889431	chr7:149553819-149671262	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
46	nsv889432	chr7:149553819-149844639	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
47	nsv889433	chr7:149553819-149880262	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
48	nsv1035069	chr7:149559673-149695197	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
49	nsv1016446	chr7:149559673-149743092	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription 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	29 gene(s)	inside rSNPs	diseases
50	nsv1017147	chr7:149559673-149748966	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7795944	ATP6V0E2	cis	Skin Sun Exposed Lower leg	GTEx
rs7795944	ATP6V0E2	cis	multi-tissue	Pritchard
rs7795944	ATP6V0E2	Cis_1M	lymphoblastoid	RTeQTL
rs7795944	ATP6V0E2	cis	lymphoblastoid	seeQTL
rs7795944	ATP6V0E2	cis	Whole Blood	GTEx
rs7795944	ATP6V0E2L	cis	multi-tissue	Pritchard
rs7795944	ATP6V0E2	cis	lung	GTEx
rs7795944	ATP6V0E2	cis	Esophagus Mucosa	GTEx
rs7795944	C7orf32	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149569600-149571800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr7:149569600-149572200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:149569800-149571600	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr7:149569800-149571800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:149569800-149571800	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr7:149569800-149571800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr7:149569800-149571800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:149569800-149571800	Flanking Active TSS	Colonic Mucosa	Colon
9	chr7:149569800-149572200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr7:149570000-149571600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:149570000-149571600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:149570000-149571600	Active TSS	Fetal Kidney	kidney
13	chr7:149570000-149571600	Active TSS	Left Ventricle	heart
14	chr7:149570000-149571600	Active TSS	Ovary	ovary
15	chr7:149570000-149571600	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr7:149570000-149571800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:149570000-149572000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr7:149570200-149571600	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr7:149570200-149571800	Active TSS	Esophagus	oesophagus
20	chr7:149570400-149571600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr7:149570400-149571600	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr7:149570400-149571600	Active TSS	Small Intestine	intestine
23	chr7:149570400-149571800	Active TSS	Fetal Intestine Large	intestine
24	chr7:149570400-149572000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr7:149570600-149572200	Active TSS	Thymus	Thymus
26	chr7:149571000-149571600	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr7:149571000-149571800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr7:149571000-149571800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:149571000-149571800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr7:149571000-149571800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr7:149571000-149572000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr7:149571000-149572000	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr7:149571200-149571600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr7:149571200-149571600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:149571200-149571600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr7:149571200-149571600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:149571200-149571600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:149571200-149571600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:149571200-149571600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:149571200-149571600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:149571200-149571600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:149571200-149571600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr7:149571200-149571600	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr7:149571200-149571600	Active TSS	Right Atrium	heart
45	chr7:149571200-149571600	Flanking Active TSS	HSMM	muscle
46	chr7:149571200-149571600	Flanking Active TSS	HUVEC	blood vessel
47	chr7:149571200-149571600	Flanking Active TSS	NHEK	skin
48	chr7:149571200-149571800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr7:149571200-149571800	Flanking Active TSS	Fetal Heart	heart
50	chr7:149571200-149571800	Flanking Active TSS	Lung	lung

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