Variant report

Variant	rs4876777
Chromosome Location	chr8:118952022-118952023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118924992..118927722-chr8:118950419..118952468,2	MCF-7	breast:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10087446	0.91[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10097196	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10102745	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10105797	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10106675	0.87[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs10955846	0.92[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1125103	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11774623	0.87[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs11777220	0.85[ASN][1000 genomes]
rs11777874	0.87[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11780699	0.92[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11781153	0.91[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs11781245	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11784409	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs11784466	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs12682332	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs13256042	0.88[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13260665	0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1462985	0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1466429	0.91[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1542519	0.91[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs1564132	0.88[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17430540	0.87[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs17430610	0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs17450835	0.82[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs17450856	0.83[ASN][1000 genomes]
rs17450863	0.87[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs17450876	0.87[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs17452966	0.87[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs17453043	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs17475190	0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs17479600	0.81[ASN][1000 genomes]
rs2008799	0.92[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2199545	0.91[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2219724	0.92[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2325820	0.87[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2325821	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2447535	0.96[CEU][hapmap];0.96[CHB][hapmap];0.81[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2447536	0.96[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2447537	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2447538	0.84[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs2447539	0.84[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2447540	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2447541	0.91[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2514719	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2514720	0.92[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs28357271	0.87[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs28357275	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs28357276	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs28357277	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs3101574	0.92[CEU][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3860883	0.80[CEU][hapmap]
rs4298514	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs4391466	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs4541958	0.95[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4602926	0.87[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs4644291	0.81[EUR][1000 genomes]
rs4876774	0.88[CEU][hapmap]
rs4876775	0.88[CEU][hapmap]
rs4876781	0.92[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4876782	0.91[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4876783	0.91[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4876784	0.87[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5005135	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs56748438	0.84[ASN][1000 genomes]
rs62521139	0.81[ASN][1000 genomes]
rs62521140	0.81[ASN][1000 genomes]
rs62521141	0.83[ASN][1000 genomes]
rs6469716	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs6469718	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs6982505	0.81[ASN][1000 genomes]
rs6985552	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs6999044	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs7007735	0.82[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs7012890	0.87[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7812722	0.87[CEU][hapmap]
rs7815972	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7818831	0.84[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7820452	0.87[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7822297	0.87[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7824327	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs7824391	0.83[ASN][1000 genomes]
rs7824395	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs7824651	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7836747	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs7840309	0.91[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs7842917	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs7843515	0.82[CEU][hapmap];0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs958381	0.95[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9643120	0.92[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9656923	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs9656925	0.87[CHB][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118935200-118958600	Weak transcription	Esophagus	oesophagus
2	chr8:118946400-118953000	Enhancers	NHLF	lung
3	chr8:118946800-118952400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:118946800-118958600	Weak transcription	Pancreas	Pancrea
5	chr8:118947000-118952200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:118947000-118956000	Weak transcription	Gastric	stomach
7	chr8:118947200-118952400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:118947400-118952400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:118947400-118952800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:118947400-118953200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:118947400-118960600	Weak transcription	Right Ventricle	heart
12	chr8:118947600-118953000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:118947800-118952400	Weak transcription	Lung	lung
14	chr8:118947800-118952800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:118949200-118954400	Enhancers	HMEC	breast
16	chr8:118949400-118954400	Enhancers	HUVEC	blood vessel
17	chr8:118950000-118958800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:118950200-118952400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:118950200-118952400	Enhancers	NHDF-Ad	bronchial
20	chr8:118950200-118952800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:118950200-118953200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:118950200-118953400	Weak transcription	Fetal Kidney	kidney
23	chr8:118950400-118952200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:118950400-118952200	Weak transcription	HSMMtube	muscle
25	chr8:118950400-118952400	Weak transcription	Left Ventricle	heart
26	chr8:118950400-118952600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:118950400-118952600	Weak transcription	Adipose Nuclei	Adipose
28	chr8:118950400-118952800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:118950400-118952800	Weak transcription	Placenta	Placenta
30	chr8:118950400-118953000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:118950400-118953000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:118950400-118953200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:118950400-118953200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:118950400-118953200	Weak transcription	A549	lung
35	chr8:118950400-118955800	Weak transcription	Stomach Mucosa	stomach
36	chr8:118950400-118956000	Weak transcription	Fetal Thymus	thymus
37	chr8:118950400-118956200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:118950400-118958600	Weak transcription	Fetal Heart	heart
39	chr8:118950400-118958600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:118950400-118958600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:118950400-118960200	Weak transcription	Psoas Muscle	Psoas
42	chr8:118950600-118952400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:118950600-118952400	Weak transcription	Aorta	Aorta
44	chr8:118950600-118952400	Weak transcription	Right Atrium	heart
45	chr8:118950600-118952600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:118950600-118952800	Weak transcription	Fetal Lung	lung
47	chr8:118950600-118953000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:118950600-118953200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:118950600-118953200	Weak transcription	Fetal Intestine Small	intestine
50	chr8:118950600-118953200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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