Variant report

Variant	rs7004377
Chromosome Location	chr8:119062884-119062885
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10088107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10088828	0.81[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10095646	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10099230	0.86[JPT][hapmap];0.97[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10104745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10106128	0.88[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1020916	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10216949	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10505325	0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10955850	0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10955851	0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10955852	0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11562725	0.88[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11562727	0.88[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11562814	0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1188	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12541849	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12544344	0.88[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13264371	0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13271950	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13277304	0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13277610	0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13282822	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2100617	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2124959	0.88[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4876399	0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6990802	0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6997001	0.87[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73325947	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7357466	0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7357586	0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7357588	0.88[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7813805	0.87[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7819492	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7829981	0.87[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7832327	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7833710	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs881989	0.88[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9649944	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9650073	0.88[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	14 gene(s)	inside rSNPs	diseases
7	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119048600-119063800	Weak transcription	HSMMtube	muscle
2	chr8:119055200-119065400	Weak transcription	HepG2	liver
3	chr8:119056000-119066200	Weak transcription	Right Ventricle	heart
4	chr8:119057000-119068400	Weak transcription	Hela-S3	cervix
5	chr8:119057800-119065800	Weak transcription	Fetal Intestine Small	intestine
6	chr8:119057800-119065800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:119058800-119064600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:119058800-119065000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:119058800-119065000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:119059600-119065000	Weak transcription	Spleen	Spleen
11	chr8:119060200-119064800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:119060400-119063000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:119060600-119063800	Weak transcription	HSMM	muscle
14	chr8:119060600-119064800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:119061000-119066000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:119061200-119066000	Weak transcription	Small Intestine	intestine
17	chr8:119061600-119063200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:119061600-119063400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:119061600-119065800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:119061800-119064000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:119061800-119064200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:119061800-119065000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:119062000-119064400	Genic enhancers	Osteobl	bone
24	chr8:119062000-119066400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:119062000-119067400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:119062000-119072800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:119062200-119063200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr8:119062200-119063800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:119062200-119065000	Weak transcription	Gastric	stomach
30	chr8:119062200-119065000	Weak transcription	Ovary	ovary
31	chr8:119062200-119065000	Weak transcription	Pancreas	Pancrea
32	chr8:119062200-119066200	Weak transcription	Psoas Muscle	Psoas
33	chr8:119062200-119066200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:119062200-119068400	Weak transcription	Left Ventricle	heart
35	chr8:119062200-119068600	Weak transcription	Right Atrium	heart
36	chr8:119062200-119068600	Weak transcription	Stomach Mucosa	stomach
37	chr8:119062200-119068800	Weak transcription	Esophagus	oesophagus
38	chr8:119062200-119083600	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:119062400-119063000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:119062400-119063800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:119062400-119064000	Weak transcription	HMEC	breast
42	chr8:119062400-119064600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:119062400-119065000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:119062600-119063000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:119062600-119063400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:119062600-119063400	Weak transcription	NHEK	skin
47	chr8:119062600-119064200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr8:119062600-119064600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:119062600-119065600	Weak transcription	Fetal Intestine Large	intestine
50	chr8:119062800-119063000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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