Variant report

Variant	rs856061
Chromosome Location	chr1:158980226-158980227
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	STAT3	chr1:158978735-158980510	MCF10A-Er-Src	breast:	n/a	chr1:158979842-158979853 chr1:158979355-158979364
2	FOS	chr1:158979336-158980577	MCF10A-Er-Src	breast:	n/a	chr1:158979356-158979363 chr1:158980113-158980122 chr1:158979356-158979365 chr1:158980385-158980394
3	CCNT2	chr1:158979674-158980235	K562	blood:	n/a	n/a
4	POLR2A	chr1:158978406-158980376	GM12892	blood:	n/a	n/a
5	TBP	chr1:158978436-158980668	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:158978455-158980617	GM18951	blood:	n/a	n/a
7	FOS	chr1:158979127-158980621	MCF10A-Er-Src	breast:	n/a	chr1:158979356-158979363 chr1:158980113-158980122 chr1:158979356-158979365 chr1:158980385-158980394
8	POLR2A	chr1:158980115-158980239	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:158978428-158980356	GM12892	blood:	n/a	n/a
10	KAP1	chr1:158978548-158980551	HEK293	kidney:	n/a	chr1:158979354-158979363
11	CEBPB	chr1:158979315-158980401	IMR90	lung:	n/a	n/a
12	POLR2A	chr1:158979432-158980288	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr1:158978508-158980689	GM12892	blood:	n/a	n/a
14	EP300	chr1:158979423-158980722	Hela-S3	cervix:	n/a	chr1:158980664-158980674
15	POLR2A	chr1:158978461-158980586	GM18526	blood:	n/a	n/a
16	MXI1	chr1:158978956-158981134	IMR90	lung:	n/a	n/a
17	POLR2A	chr1:158978459-158981042	GM15510	blood:	n/a	n/a
18	ELK1	chr1:158980191-158980354	GM12878	blood:	n/a	n/a
19	RCOR1	chr1:158978512-158980241	GM12878	blood:	n/a	n/a
20	BRCA1	chr1:158979337-158980558	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr1:158979131-158980643	U87	brain:	n/a	n/a
22	STAT3	chr1:158978935-158980925	MCF10A-Er-Src	breast:	n/a	chr1:158979842-158979853 chr1:158979355-158979364
23	MAX	chr1:158979360-158980636	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:158978710-158981534	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr1:158979144-158980622	MCF10A-Er-Src	breast:	n/a	chr1:158979356-158979363 chr1:158980113-158980122 chr1:158979356-158979365 chr1:158980385-158980394
26	STAT3	chr1:158978936-158980665	MCF10A-Er-Src	breast:	n/a	chr1:158979842-158979853 chr1:158979355-158979364
27	STAT3	chr1:158979293-158980479	Hela-S3	cervix:	n/a	chr1:158979842-158979853 chr1:158979355-158979364
28	POLR2A	chr1:158978457-158980760	GM12878	blood:	n/a	n/a
29	GATA3	chr1:158979296-158980414	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr1:158978464-158986840	GM12892	blood:	n/a	n/a
31	POLR2A	chr1:158979459-158980230	Hela-S3	cervix:	n/a	n/a
32	STAT1	chr1:158979114-158980276	Hela-S3	cervix:	n/a	chr1:158979608-158979619 chr1:158979355-158979364
33	STAT3	chr1:158979009-158980766	MCF10A-Er-Src	breast:	n/a	chr1:158979842-158979853 chr1:158979355-158979364
34	MYC	chr1:158979105-158980701	MCF10A-Er-Src	breast:	n/a	n/a
35	GATA1	chr1:158979309-158980639	K562	blood:	n/a	n/a
36	CHD1	chr1:158978577-158980909	GM12878	blood:	n/a	n/a
37	EBF1	chr1:158979511-158980333	GM12878	blood:	n/a	chr1:158979700-158979711
38	POLR2A	chr1:158978242-158981066	GM12878	blood:	n/a	n/a
39	TAF1	chr1:158979415-158980347	PFSK-1	brain:	n/a	n/a
40	CEBPB	chr1:158979270-158981129	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr1:158978391-158981364	GM12878	blood:	n/a	n/a
42	CHD2	chr1:158979471-158980300	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr1:158979223-158980253	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr1:158978442-158980954	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:158979275-158980263	HUVEC	blood vessel:	n/a	n/a
46	PML	chr1:158978434-158980352	GM12878	blood:	n/a	chr1:158979354-158979363
47	POLR2A	chr1:158979131-158980615	U87	brain:	n/a	n/a
48	POLR2A	chr1:158979162-158980651	IMR90	lung:	n/a	n/a
49	EP300	chr1:158979500-158980540	GM12878	blood:	n/a	n/a
50	GTF3C2	chr1:158979788-158980331	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:158980102..158980980-chr7:91467247..91467748,2	Hela-S3	cervix:
2	chr1:158979699..158980284-chr16:31191231..31192125,2	Hela-S3	cervix:
3	chr1:158978448..158981430-chr1:159044743..159047016,2	K562	blood:

Variant related genes	Relation type
IFI16	TF binding region
ENSG00000089280	Chromatin interaction
ENSG00000163568	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10437336	1.00[EUR][1000 genomes]
rs10437337	1.00[EUR][1000 genomes]
rs10489847	1.00[EUR][1000 genomes]
rs1101999	1.00[EUR][1000 genomes]
rs1102000	1.00[EUR][1000 genomes]
rs1102017	1.00[EUR][1000 genomes]
rs1104171	1.00[EUR][1000 genomes]
rs11265145	1.00[EUR][1000 genomes]
rs11265147	1.00[EUR][1000 genomes]
rs12057331	1.00[EUR][1000 genomes]
rs12059838	1.00[EUR][1000 genomes]
rs12060241	1.00[EUR][1000 genomes]
rs12061139	1.00[EUR][1000 genomes]
rs12062789	1.00[EUR][1000 genomes]
rs12063682	1.00[EUR][1000 genomes]
rs12063973	1.00[EUR][1000 genomes]
rs12064129	1.00[EUR][1000 genomes]
rs12068030	1.00[EUR][1000 genomes]
rs12087366	1.00[EUR][1000 genomes]
rs1341409	1.00[EUR][1000 genomes]
rs1612810	1.00[EUR][1000 genomes]
rs1612844	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1616270	1.00[EUR][1000 genomes]
rs1626284	1.00[EUR][1000 genomes]
rs1629682	1.00[EUR][1000 genomes]
rs1629702	1.00[EUR][1000 genomes]
rs1631448	1.00[EUR][1000 genomes]
rs1633293	1.00[EUR][1000 genomes]
rs1633296	1.00[EUR][1000 genomes]
rs1633298	1.00[EUR][1000 genomes]
rs16841729	1.00[EUR][1000 genomes]
rs16841784	1.00[EUR][1000 genomes]
rs16841789	1.00[EUR][1000 genomes]
rs1772398	1.00[EUR][1000 genomes]
rs1772439	1.00[EUR][1000 genomes]
rs1772441	1.00[EUR][1000 genomes]
rs1772442	1.00[EUR][1000 genomes]
rs1772444	1.00[EUR][1000 genomes]
rs2746042	1.00[EUR][1000 genomes]
rs3026944	1.00[EUR][1000 genomes]
rs3026947	1.00[EUR][1000 genomes]
rs3026970	1.00[EUR][1000 genomes]
rs3026984	1.00[EUR][1000 genomes]
rs3027040	1.00[EUR][1000 genomes]
rs3027041	1.00[EUR][1000 genomes]
rs3027046	1.00[EUR][1000 genomes]
rs3027047	1.00[EUR][1000 genomes]
rs3027050	1.00[EUR][1000 genomes]
rs3027057	1.00[EUR][1000 genomes]
rs3027066	1.00[EUR][1000 genomes]
rs34870435	1.00[EUR][1000 genomes]
rs35122728	1.00[EUR][1000 genomes]
rs36103299	1.00[EUR][1000 genomes]
rs36160848	1.00[EUR][1000 genomes]
rs73023773	1.00[EUR][1000 genomes]
rs73023775	1.00[EUR][1000 genomes]
rs74122265	1.00[EUR][1000 genomes]
rs856059	1.00[EUR][1000 genomes]
rs856060	1.00[EUR][1000 genomes]
rs856062	1.00[EUR][1000 genomes]
rs856063	1.00[EUR][1000 genomes]
rs856065	1.00[EUR][1000 genomes]
rs856069	1.00[EUR][1000 genomes]
rs856075	1.00[EUR][1000 genomes]
rs856076	1.00[EUR][1000 genomes]
rs856078	1.00[EUR][1000 genomes]
rs856082	1.00[EUR][1000 genomes]
rs856087	1.00[EUR][1000 genomes]
rs856128	1.00[EUR][1000 genomes]
rs856130	1.00[EUR][1000 genomes]
rs856137	1.00[EUR][1000 genomes]
rs856138	1.00[EUR][1000 genomes]
rs856139	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs856144	1.00[EUR][1000 genomes]
rs856145	1.00[EUR][1000 genomes]
rs856147	1.00[EUR][1000 genomes]
rs856148	1.00[EUR][1000 genomes]
rs864439	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3369957	chr1:158915589-159003393	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS 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	6 gene(s)	inside rSNPs	diseases
3	nsv3176	chr1:158955373-158986568	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158970800-158980800	Weak transcription	Pancreas	Pancrea
2	chr1:158976000-158983000	Weak transcription	Spleen	Spleen
3	chr1:158976000-159000800	Weak transcription	Gastric	stomach
4	chr1:158977200-158990400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:158977800-158982400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:158978200-158980400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:158978200-158981400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr1:158978600-158984200	Active TSS	Rectal Smooth Muscle	rectum
9	chr1:158978800-158983800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:158978800-158985800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr1:158979000-158980800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:158979000-158981200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr1:158979200-158980600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:158979200-158981000	Active TSS	Aorta	Aorta
15	chr1:158979200-158981200	Active TSS	Colonic Mucosa	Colon
16	chr1:158979200-158981200	Active TSS	Psoas Muscle	Psoas
17	chr1:158979200-158982600	Active TSS	Fetal Stomach	stomach
18	chr1:158979200-158982800	Active TSS	NHLF	lung
19	chr1:158979200-158983200	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr1:158979200-158983400	Active TSS	Right Atrium	heart
21	chr1:158979200-158984000	Active TSS	Stomach Smooth Muscle	stomach
22	chr1:158979400-158980600	Active TSS	Brain Substantia Nigra	brain
23	chr1:158979400-158980800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:158979400-158980800	Active TSS	Brain Cingulate Gyrus	brain
25	chr1:158979400-158981000	Active TSS	Brain Angular Gyrus	brain
26	chr1:158979400-158981000	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr1:158979400-158981000	Active TSS	Dnd41	blood
28	chr1:158979400-158981200	Active TSS	Fetal Intestine Small	intestine
29	chr1:158979400-158981200	Active TSS	Left Ventricle	heart
30	chr1:158979400-158981400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:158979400-158981600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr1:158979400-158981600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:158979400-158982000	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr1:158979400-158982200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:158979400-158982200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:158979400-158982200	Active TSS	NHDF-Ad	bronchial
37	chr1:158979400-158982400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:158979400-158982400	Active TSS	Fetal Kidney	kidney
39	chr1:158979400-158982400	Active TSS	Fetal Lung	lung
40	chr1:158979400-158982400	Active TSS	HSMM	muscle
41	chr1:158979400-158982400	Active TSS	HSMMtube	muscle
42	chr1:158979400-158982800	Active TSS	Fetal Intestine Large	intestine
43	chr1:158979400-158983000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:158979400-158983000	Active TSS	Primary T cells fromperipheralblood	blood
45	chr1:158979400-158983000	Active TSS	Ovary	ovary
46	chr1:158979400-158983000	Active TSS	Thymus	Thymus
47	chr1:158979400-158983200	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr1:158979400-158983200	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr1:158979400-158983400	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr1:158979400-158983600	Active TSS	Fetal Muscle Leg	muscle

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