Variant report

Variant	rs6995597
Chromosome Location	chr8:104384780-104384781
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	EP300	chr8:104384337-104384807	SK-N-SH_RA	brain:	n/a	chr8:104384575-104384584
2	CEBPB	chr8:104384369-104384780	IMR90	lung:	n/a	n/a
3	EGR1	chr8:104383299-104385047	HCT-116	colon:	n/a	chr8:104383723-104383732 chr8:104383722-104383732 chr8:104383720-104383733 chr8:104383720-104383733 chr8:104383631-104383644 chr8:104384526-104384550 chr8:104383720-104383734 chr8:104383633-104383643 chr8:104383657-104383667 chr8:104383721-104383735 chr8:104383630-104383645 chr8:104383723-104383733 chr8:104383719-104383734 chr8:104383720-104383733 chr8:104383721-104383732 chr8:104383657-104383670 chr8:104383631-104383644 chr8:104383654-104383668 chr8:104383720-104383733 chr8:104383677-104383690
4	RAD21	chr8:104383970-104385893	HCT-116	colon:	n/a	chr8:104385611-104385621 chr8:104385611-104385625 chr8:104385609-104385621 chr8:104385607-104385626 chr8:104385610-104385623
5	HDAC2	chr8:104384677-104385041	HepG2	liver:	n/a	chr8:104384891-104384900
6	MAX	chr8:104383301-104385874	HCT-116	colon:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
7	MYBL2	chr8:104384303-104384895	HepG2	liver:	n/a	n/a
8	GATA3	chr8:104384135-104385025	SK-N-SH	brain:	n/a	chr8:104384574-104384583
9	EP300	chr8:104384348-104384893	SK-N-SH_RA	brain:	n/a	chr8:104384575-104384584
10	FOXA1	chr8:104384411-104385098	HepG2	liver:	n/a	chr8:104384916-104384928 chr8:104384888-104384900
11	REST	chr8:104384272-104384926	PFSK-1	brain:	n/a	chr8:104384452-104384465
12	POLR2A	chr8:104384426-104384934	HepG2	liver:	n/a	n/a
13	SMC3	chr8:104383479-104386604	SK-N-SH	brain:	n/a	chr8:104385611-104385621 chr8:104385611-104385625 chr8:104384498-104384505 chr8:104385618-104385625
14	REST	chr8:104384254-104384801	SK-N-SH	brain:	n/a	chr8:104384452-104384465
15	JUND	chr8:104384158-104385109	SK-N-SH	brain:	n/a	chr8:104384574-104384585 chr8:104384572-104384583
16	POLR2A	chr8:104384311-104384807	HUVEC	blood vessel:	n/a	n/a
17	MAX	chr8:104383315-104385139	HepG2	liver:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
18	FOSL2	chr8:104384328-104384787	HepG2	liver:	n/a	chr8:104384572-104384583
19	GATA3	chr8:104384069-104386185	SK-N-SH	brain:	n/a	chr8:104384574-104384583
20	YY1	chr8:104384050-104384902	SK-N-SH	brain:	n/a	n/a
21	TEAD4	chr8:104383479-104385028	SK-N-SH	brain:	n/a	n/a
22	MAX	chr8:104383297-104385061	HCT-116	colon:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
23	REST	chr8:104384335-104384782	SK-N-SH	brain:	n/a	chr8:104384452-104384465
24	SIN3AK20	chr8:104384252-104385033	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr8:104383590-104386072	IMR90	lung:	n/a	n/a
26	TAF1	chr8:104384428-104384784	SK-N-SH	brain:	n/a	n/a
27	RAD21	chr8:104384271-104384838	SK-N-SH_RA	brain:	n/a	n/a
28	POLR2A	chr8:104384226-104385014	HUVEC	blood vessel:	n/a	n/a
29	RAD21	chr8:104384302-104386039	SK-N-SH	brain:	n/a	chr8:104385611-104385621 chr8:104385611-104385625 chr8:104385609-104385621 chr8:104385607-104385626 chr8:104385610-104385623
30	HEY1	chr8:104384440-104384808	HepG2	liver:	n/a	n/a
31	EP300	chr8:104384263-104384999	SK-N-SH	brain:	n/a	chr8:104384891-104384901 chr8:104384575-104384584
32	POLR2A	chr8:104383527-104385057	HUVEC	blood vessel:	n/a	n/a
33	EP300	chr8:104383384-104384960	SK-N-SH	brain:	n/a	chr8:104384891-104384901 chr8:104383860-104383876 chr8:104383588-104383604 chr8:104383791-104383807 chr8:104384575-104384584
34	POLR2A	chr8:104384406-104384798	HepG2	liver:	n/a	n/a
35	TBP	chr8:104384417-104384930	HepG2	liver:	n/a	n/a
36	MAX	chr8:104383353-104384959	SK-N-SH	brain:	n/a	chr8:104383634-104383644 chr8:104383467-104383476 chr8:104383465-104383473 chr8:104383661-104383670 chr8:104383466-104383477 chr8:104383465-104383478
37	POLR2A	chr8:104384303-104384859	U87	brain:	n/a	n/a
38	GABPA	chr8:104384321-104385131	SK-N-SH	brain:	n/a	n/a
39	JUND	chr8:104384033-104386018	SK-N-SH	brain:	n/a	chr8:104384574-104384585 chr8:104384572-104384583
40	USF1	chr8:104384187-104384785	SK-N-SH	brain:	n/a	chr8:104384443-104384454
41	TAF1	chr8:104383430-104385064	SK-N-SH	brain:	n/a	n/a
42	TCF12	chr8:104383394-104385161	SK-N-SH	brain:	n/a	chr8:104384891-104384900
43	NFIC	chr8:104383467-104385068	SK-N-SH	brain:	n/a	n/a
44	FOXA1	chr8:104384599-104385033	HepG2	liver:	n/a	chr8:104384916-104384928 chr8:104384888-104384900
45	PBX3	chr8:104384154-104385027	SK-N-SH	brain:	n/a	n/a
46	FOS	chr8:104384377-104384785	HUVEC	blood vessel:	n/a	chr8:104384574-104384585 chr8:104384572-104384583
47	RAD21	chr8:104384243-104385894	IMR90	lung:	n/a	chr8:104385611-104385621 chr8:104385611-104385625 chr8:104385609-104385621 chr8:104385607-104385626 chr8:104385610-104385623
48	POLR2A	chr8:104384232-104384894	U87	brain:	n/a	n/a
49	RXRA	chr8:104384192-104384848	SK-N-SH	brain:	n/a	n/a
50	TAF1	chr8:104384303-104385071	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:104384537..104387363-chr8:104425771..104427328,2	MCF-7	breast:
2	chr8:104309661..104313454-chr8:104382208..104385836,8	MCF-7	breast:
3	chr8:104383486..104387596-chr8:104393672..104397600,4	K562	blood:
4	chr8:104384521..104386453-chr8:104425627..104427344,2	K562	blood:
5	chr8:104309966..104312210-chr8:104383451..104386900,3	MCF-7	breast:
6	chr8:104382282..104385358-chr8:104387344..104390689,3	K562	blood:
7	chr8:104382634..104385222-chr8:104394415..104397249,2	K562	blood:
8	chr8:104382707..104385620-chr8:104427062..104430016,2	MCF-7	breast:
9	chr8:104085750..104086680-chr8:104384771..104385796,4	K562	blood:
10	chr8:104382288..104384118-chr8:104384150..104386828,2	MCF-7	breast:
11	chr8:104383757..104385653-chr8:104425622..104427492,3	K562	blood:
12	chr8:104384672..104387548-chr8:104409163..104411650,2	K562	blood:

Variant related genes	Relation type
CTHRC1	TF binding region
ENSG00000247081	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000266289	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000207399	Chromatin interaction
ENSG00000164930	Chromatin interaction
ENSG00000164932	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10093100	0.81[ASN][1000 genomes]
rs10093198	0.81[ASN][1000 genomes]
rs10100283	0.81[ASN][1000 genomes]
rs10955315	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1403294	0.81[JPT][hapmap]
rs16870374	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2272098	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2272099	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2272100	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2272101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3736052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4512347	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs59880568	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60266328	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60607235	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6997144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7813603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7814419	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7817431	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7818129	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription 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	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong 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
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh 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
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1033477	chr8:104369940-104439632	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active 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	28 gene(s)	inside rSNPs	diseases
10	nsv539706	chr8:104369940-104439632	Active TSS Strong transcription Weak transcription Enhancers Flanking 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	28 gene(s)	inside rSNPs	diseases
11	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104383400-104384800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr8:104383400-104385000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:104383400-104385000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:104383400-104385000	Active TSS	Fetal Kidney	kidney
5	chr8:104383400-104385000	Active TSS	Placenta Amnion	Placenta Amnion
6	chr8:104383400-104385400	Active TSS	Aorta	Aorta
7	chr8:104383400-104386400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:104383400-104386600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:104383600-104384800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
10	chr8:104383600-104385200	Active TSS	NH-A	brain
11	chr8:104383800-104385000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:104383800-104385000	Bivalent/Poised TSS	Psoas Muscle	Psoas
13	chr8:104383800-104385200	Bivalent Enhancer	Stomach Mucosa	stomach
14	chr8:104383800-104385400	Flanking Active TSS	HepG2	liver
15	chr8:104384000-104384800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr8:104384000-104385000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr8:104384000-104385600	Flanking Active TSS	NHDF-Ad	bronchial
18	chr8:104384000-104386000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr8:104384000-104386000	Flanking Active TSS	Osteobl	bone
20	chr8:104384200-104384800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr8:104384200-104384800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr8:104384200-104384800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
23	chr8:104384200-104384800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr8:104384200-104384800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr8:104384200-104384800	Enhancers	Gastric	stomach
26	chr8:104384200-104384800	Enhancers	Lung	lung
27	chr8:104384200-104384800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr8:104384200-104384800	Enhancers	HMEC	breast
29	chr8:104384200-104385000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
30	chr8:104384200-104385200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:104384200-104385400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:104384200-104385400	Enhancers	A549	lung
33	chr8:104384200-104385800	Enhancers	Brain Cingulate Gyrus	brain
34	chr8:104384200-104386400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:104384200-104394800	Weak transcription	GM12878-XiMat	blood
36	chr8:104384200-104399800	Weak transcription	Primary T cells from cord blood	blood
37	chr8:104384400-104384800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:104384400-104384800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
39	chr8:104384400-104384800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:104384400-104384800	Enhancers	Brain Angular Gyrus	brain
41	chr8:104384400-104384800	Active TSS	Right Atrium	heart
42	chr8:104384400-104384800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
43	chr8:104384400-104385000	Enhancers	Fetal Thymus	thymus
44	chr8:104384400-104385200	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr8:104384400-104385200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:104384400-104385400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
47	chr8:104384400-104385400	Weak transcription	Liver	Liver
48	chr8:104384400-104385600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
49	chr8:104384400-104385600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:104384400-104385600	Enhancers	Cortex derived primary cultured neurospheres	brain

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