Variant report

Variant	rs776962
Chromosome Location	chr8:107678619-107678620
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107677870..107679876-chr8:107686793..107689768,2	MCF-7	breast:
2	chr8:107678069..107680134-chr8:107683675..107685585,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1580289	0.92[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1601249	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1676420	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1681879	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1681886	0.85[CHB][hapmap]
rs1681904	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1681905	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1784469	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1784472	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1784473	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1784480	0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs1784492	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1784494	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2126581	0.92[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2282509	0.84[CEU][hapmap];0.90[CHB][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2627788	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2627790	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs725906	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776932	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776933	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776934	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776938	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776939	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs776941	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs776944	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs776946	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs776948	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs776949	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs776950	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776951	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776954	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776960	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs776961	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776963	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs776965	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6342	chr8:107644092-107688898	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107670800-107685800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:107671200-107697200	Weak transcription	HSMM	muscle
3	chr8:107672200-107718800	Weak transcription	Psoas Muscle	Psoas
4	chr8:107672400-107685800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:107672400-107718600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:107672600-107678800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:107672600-107678800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:107672600-107679200	Weak transcription	Primary T cells from cord blood	blood
9	chr8:107672600-107679200	Weak transcription	NHEK	skin
10	chr8:107672600-107681200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:107672600-107682200	Weak transcription	Aorta	Aorta
12	chr8:107672600-107683600	Weak transcription	Hela-S3	cervix
13	chr8:107672600-107684400	Weak transcription	Fetal Intestine Small	intestine
14	chr8:107672600-107684800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:107672600-107686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:107672600-107696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:107672800-107680600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:107672800-107685800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:107672800-107696000	Weak transcription	Fetal Kidney	kidney
20	chr8:107673000-107680600	Weak transcription	Small Intestine	intestine
21	chr8:107673000-107684800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:107673200-107678800	Weak transcription	Right Ventricle	heart
23	chr8:107673400-107680000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:107674400-107682000	Weak transcription	Adipose Nuclei	Adipose
25	chr8:107674400-107685800	Weak transcription	Fetal Stomach	stomach
26	chr8:107674400-107696000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:107675000-107680600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:107676000-107678800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:107676200-107678800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:107676200-107685800	Weak transcription	Esophagus	oesophagus
31	chr8:107676200-107685800	Weak transcription	Gastric	stomach
32	chr8:107676200-107697400	Weak transcription	Left Ventricle	heart
33	chr8:107676400-107678800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:107676400-107678800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:107676400-107681600	Weak transcription	HepG2	liver
36	chr8:107676400-107682000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr8:107676400-107682200	Weak transcription	Right Atrium	heart
38	chr8:107676600-107682200	Weak transcription	K562	blood
39	chr8:107676800-107678800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:107676800-107680600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:107676800-107682600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:107677200-107679200	Enhancers	Colon Smooth Muscle	Colon
43	chr8:107677400-107678800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:107677400-107679000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:107677400-107679200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr8:107677400-107679800	Enhancers	Primary B cells from cord blood	blood
47	chr8:107677600-107678800	Enhancers	GM12878-XiMat	blood
48	chr8:107677600-107680800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:107677600-107682200	Weak transcription	Ovary	ovary
50	chr8:107677600-107685600	Weak transcription	Fetal Lung	lung

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