Variant report

Variant	rs3101533
Chromosome Location	chr8:107680261-107680262
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107679723..107681395-chr8:107684179..107686589,2	MCF-7	breast:
2	chr8:107665950..107668451-chr8:107679150..107681504,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11988518	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11996457	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12675956	0.92[CHB][hapmap]
rs12676199	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12681427	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs1542644	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1954790	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2126579	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2126582	0.83[JPT][hapmap]
rs2881423	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3101531	0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs3101532	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3101534	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3101538	0.91[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3101539	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3102431	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3102432	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3102434	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3110429	0.88[ASN][1000 genomes]
rs3132806	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3132807	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3134127	0.83[ASN][1000 genomes]
rs3134129	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6469077	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6983111	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6983210	0.91[CHB][hapmap]
rs7000202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7817274	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv1799660	chr8:107679505-107689755	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 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	chr8:107672600-107681200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:107672600-107682200	Weak transcription	Aorta	Aorta
8	chr8:107672600-107683600	Weak transcription	Hela-S3	cervix
9	chr8:107672600-107684400	Weak transcription	Fetal Intestine Small	intestine
10	chr8:107672600-107684800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:107672600-107686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:107672600-107696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:107672800-107680600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr8:107672800-107685800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:107672800-107696000	Weak transcription	Fetal Kidney	kidney
16	chr8:107673000-107680600	Weak transcription	Small Intestine	intestine
17	chr8:107673000-107684800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:107674400-107682000	Weak transcription	Adipose Nuclei	Adipose
19	chr8:107674400-107685800	Weak transcription	Fetal Stomach	stomach
20	chr8:107674400-107696000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:107675000-107680600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:107676200-107685800	Weak transcription	Esophagus	oesophagus
23	chr8:107676200-107685800	Weak transcription	Gastric	stomach
24	chr8:107676200-107697400	Weak transcription	Left Ventricle	heart
25	chr8:107676400-107681600	Weak transcription	HepG2	liver
26	chr8:107676400-107682000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:107676400-107682200	Weak transcription	Right Atrium	heart
28	chr8:107676600-107682200	Weak transcription	K562	blood
29	chr8:107676800-107680600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr8:107676800-107682600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:107677600-107680800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:107677600-107682200	Weak transcription	Ovary	ovary
33	chr8:107677600-107685600	Weak transcription	Fetal Lung	lung
34	chr8:107677600-107709400	Weak transcription	Pancreas	Pancrea
35	chr8:107677600-107718800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr8:107678000-107680400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:107678200-107681000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr8:107678200-107681000	Weak transcription	Liver	Liver
39	chr8:107678400-107682800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr8:107678600-107683000	Enhancers	Primary B cells from peripheral blood	blood
41	chr8:107679000-107680400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:107679000-107682000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:107679200-107681200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:107679200-107685800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:107679200-107685800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:107679200-107738200	Weak transcription	Right Ventricle	heart
47	chr8:107679400-107680600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr8:107679800-107680400	Active TSS	GM12878-XiMat	blood
49	chr8:107679800-107680800	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr8:107679800-107681200	Weak transcription	Colon Smooth Muscle	Colon

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