Variant report

Variant	rs8187785
Chromosome Location	chr7:87104791-87104792
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	TAF1	chr7:87104747-87105302	HepG2	liver:	n/a	n/a
2	BHLHE40	chr7:87103333-87105002	GM12878	blood:	n/a	n/a
3	CHD2	chr7:87103416-87105339	GM12878	blood:	n/a	chr7:87104889-87104899
4	POLR2A	chr7:87103862-87105708	GM19193	blood:	n/a	n/a
5	CHD2	chr7:87104791-87105412	HepG2	liver:	n/a	chr7:87104889-87104899
6	EBF1	chr7:87103433-87104837	GM12878	blood:	n/a	n/a
7	TAF1	chr7:87104626-87105313	HepG2	liver:	n/a	n/a
8	MAX	chr7:87104758-87105281	HepG2	liver:	n/a	chr7:87104897-87104906
9	POLR2A	chr7:87103555-87106431	GM12878	blood:	n/a	n/a
10	HEY1	chr7:87104761-87105055	HepG2	liver:	n/a	n/a
11	RUNX3	chr7:87103115-87105030	GM12878	blood:	n/a	n/a
12	CHD1	chr7:87103651-87105326	GM12878	blood:	n/a	chr7:87104889-87104899
13	EBF1	chr7:87104512-87104905	GM12878	blood:	n/a	n/a
14	MXI1	chr7:87103356-87105447	GM12878	blood:	n/a	n/a
15	PML	chr7:87103192-87105843	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:87104780-87105006	HepG2	liver:	n/a	n/a
17	PAX5	chr7:87104776-87105325	GM12892	blood:	n/a	chr7:87104986-87104995
18	BACH1	chr7:87104693-87104885	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr7:87103807-87105531	GM18951	blood:	n/a	n/a
20	CTCF	chr7:87104680-87104830	GM12866	blood:	n/a	n/a
21	CTCF	chr7:87104638-87104938	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:87103639-87105042	GM12892	blood:	n/a	n/a
23	POLR2A	chr7:87104337-87105256	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:87103670-87105008	GM12891	blood:	n/a	n/a
25	TCF7L2	chr7:87104029-87104865	HCT-116	colon:	n/a	chr7:87104602-87104609
26	ATF2	chr7:87103159-87104838	GM12878	blood:	n/a	chr7:87104394-87104401
27	POLR2A	chr7:87103795-87105734	GM15510	blood:	n/a	n/a
28	HNF4G	chr7:87104767-87105287	HepG2	liver:	n/a	chr7:87105010-87105024 chr7:87105010-87105025 chr7:87105009-87105024 chr7:87105010-87105018 chr7:87105011-87105023 chr7:87105009-87105024 chr7:87105006-87105028 chr7:87105009-87105024 chr7:87105010-87105023
29	EP300	chr7:87104778-87105025	HepG2	liver:	n/a	n/a
30	ZBTB7A	chr7:87104782-87105339	HepG2	liver:	n/a	n/a
31	POLR2A	chr7:87103275-87105942	GM12878	blood:	n/a	n/a
32	MTA3	chr7:87103295-87104906	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:87104023-87104886	GM12892	blood:	n/a	n/a
34	RELA	chr7:87103447-87104960	GM18951	blood:	n/a	n/a
35	POLR2A	chr7:87104061-87105034	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:87104200-87105405	HepG2	liver:	n/a	n/a
37	CEBPD	chr7:87104723-87105270	HepG2	liver:	n/a	n/a
38	POLR2A	chr7:87104611-87105372	GM12878	blood:	n/a	n/a
39	HEY1	chr7:87104660-87105378	HepG2	liver:	n/a	chr7:87105129-87105144 chr7:87105165-87105180
40	CHD1	chr7:87104723-87104848	H1-hESC	embryonic stem cell:	n/a	n/a
41	KAP1	chr7:87103511-87104803	HEK293	kidney:	n/a	n/a
42	POLR2A	chr7:87104643-87105013	HepG2	liver:	n/a	n/a
43	E2F6	chr7:87104631-87105103	H1-hESC	embryonic stem cell:	n/a	n/a
44	SIN3A	chr7:87104650-87104898	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr7:87103262-87105411	GM12878	blood:	n/a	n/a
46	POU2F2	chr7:87103599-87104851	GM12878	blood:	n/a	chr7:87104157-87104169 chr7:87104186-87104200 chr7:87104264-87104276
47	POLR2A	chr7:87103428-87105708	GM19099	blood:	n/a	n/a
48	POLR2A	chr7:87104578-87105485	GM12878	blood:	n/a	n/a
49	POLR2A	chr7:87103327-87105628	GM12878	blood:	n/a	n/a
50	MAX	chr7:87104603-87105169	H1-hESC	embryonic stem cell:	n/a	chr7:87104897-87104906

Variant related genes	Relation type
ABCB4	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11983624	1.00[AMR][1000 genomes]
rs17149397	1.00[AMR][1000 genomes]
rs28364279	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45622746	1.00[AMR][1000 genomes]
rs58496736	1.00[AMR][1000 genomes]
rs73705208	1.00[AMR][1000 genomes]
rs73705209	1.00[AMR][1000 genomes]
rs73705230	1.00[AMR][1000 genomes]
rs73705249	1.00[AMR][1000 genomes]
rs73705261	1.00[AMR][1000 genomes]
rs73705262	1.00[AMR][1000 genomes]
rs73705265	1.00[AMR][1000 genomes]
rs73705280	1.00[AMR][1000 genomes]
rs73705292	1.00[AMR][1000 genomes]
rs73705294	1.00[AMR][1000 genomes]
rs7784510	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats 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	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1029486	chr7:86856387-87121976	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS 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 target site	30 gene(s)	inside rSNPs	diseases
8	nsv539004	chr7:86856387-87121976	Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS 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
9	esv1828294	chr7:86857553-87147397	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv1024376	chr7:86905796-87129346	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv1026153	chr7:86905796-87258822	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	esv3382480	chr7:87031452-87133648	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS 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	6 gene(s)	inside rSNPs	diseases
13	nsv464623	chr7:87040629-87139316	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv607726	chr7:87040629-87139316	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv1792643	chr7:87069758-87108420	Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv888684	chr7:87074964-87105795	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
18	nsv888689	chr7:87093247-87110017	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv888690	chr7:87093247-87122847	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	esv3346922	chr7:87103841-87106389	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87101600-87105200	Active TSS	Liver	Liver
2	chr7:87103400-87104800	Flanking Active TSS	NHDF-Ad	bronchial
3	chr7:87103400-87105000	Flanking Active TSS	GM12878-XiMat	blood
4	chr7:87103600-87104800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:87103600-87104800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:87103600-87105200	Active TSS	Right Atrium	heart
7	chr7:87103600-87105400	Active TSS	Aorta	Aorta
8	chr7:87103600-87105400	Active TSS	Fetal Heart	heart
9	chr7:87103600-87105400	Active TSS	Right Ventricle	heart
10	chr7:87103600-87105600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr7:87103600-87105800	Active TSS	Rectal Smooth Muscle	rectum
12	chr7:87103800-87104800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:87103800-87104800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr7:87103800-87104800	Flanking Active TSS	NH-A	brain
15	chr7:87103800-87105400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:87103800-87105600	Active TSS	Left Ventricle	heart
17	chr7:87104000-87104800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr7:87104000-87104800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr7:87104000-87104800	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr7:87104000-87104800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
21	chr7:87104000-87104800	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr7:87104000-87104800	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr7:87104000-87104800	Bivalent Enhancer	Fetal Thymus	thymus
24	chr7:87104000-87104800	Enhancers	Pancreas	Pancrea
25	chr7:87104000-87104800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr7:87104000-87104800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr7:87104000-87105000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:87104000-87105200	Active TSS	Brain Substantia Nigra	brain
29	chr7:87104000-87105400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
30	chr7:87104000-87105400	Active TSS	Psoas Muscle	Psoas
31	chr7:87104000-87105400	Bivalent/Poised TSS	HSMM	muscle
32	chr7:87104000-87105600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr7:87104000-87105600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr7:87104000-87105600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:87104000-87105600	Enhancers	Placenta	Placenta
36	chr7:87104200-87105000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:87104200-87105000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:87104200-87105000	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr7:87104200-87105400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:87104200-87105400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
41	chr7:87104200-87105400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr7:87104200-87105800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr7:87104200-87105800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr7:87104400-87104800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
45	chr7:87104400-87104800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:87104400-87104800	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr7:87104400-87104800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr7:87104400-87104800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
49	chr7:87104400-87104800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
50	chr7:87104400-87104800	Flanking Bivalent TSS/Enh	Fetal Lung	lung

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