Variant report

Variant	rs9650073
Chromosome Location	chr8:119059521-119059522
allele	A/C/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	0.96[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10088828	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10095646	0.93[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10099230	0.93[CEU][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10104745	0.96[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10106128	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1020916	0.96[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10216949	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10505325	0.96[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10955850	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955851	0.93[CEU][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10955852	0.93[CEU][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11562725	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11562727	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11562814	0.93[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1188	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12541849	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12544344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264371	0.93[CEU][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13271950	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277304	0.96[CEU][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13277610	0.96[CEU][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13282822	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2100617	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2124959	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876399	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6990802	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6997001	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7004377	0.88[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73325947	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7357466	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7357586	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7357588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7813805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7819492	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7829981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7832327	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7833710	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs881989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9649944	0.92[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.94[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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119047000-119061000	Weak transcription	Primary T cells from cord blood	blood
2	chr8:119047200-119060400	Weak transcription	Stomach Mucosa	stomach
3	chr8:119048600-119063800	Weak transcription	HSMMtube	muscle
4	chr8:119049600-119061600	Weak transcription	Esophagus	oesophagus
5	chr8:119049800-119060000	Weak transcription	HSMM	muscle
6	chr8:119050000-119060400	Weak transcription	A549	lung
7	chr8:119051000-119061600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:119053000-119059800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:119053800-119059600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:119055200-119061600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:119055200-119065400	Weak transcription	HepG2	liver
12	chr8:119055400-119061600	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:119055400-119061600	Weak transcription	Right Atrium	heart
14	chr8:119055600-119060600	Weak transcription	NHEK	skin
15	chr8:119055800-119060400	Weak transcription	HMEC	breast
16	chr8:119055800-119061000	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:119056000-119059600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:119056000-119060000	Weak transcription	NHDF-Ad	bronchial
19	chr8:119056000-119066200	Weak transcription	Right Ventricle	heart
20	chr8:119056200-119059600	Weak transcription	Fetal Heart	heart
21	chr8:119056200-119061000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:119056200-119061400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:119057000-119062800	Enhancers	Fetal Lung	lung
24	chr8:119057000-119068400	Weak transcription	Hela-S3	cervix
25	chr8:119057400-119061400	Weak transcription	Fetal Stomach	stomach
26	chr8:119057800-119060000	Weak transcription	Liver	Liver
27	chr8:119057800-119061800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr8:119057800-119065800	Weak transcription	Fetal Intestine Small	intestine
29	chr8:119057800-119065800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:119058200-119059800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:119058400-119060200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:119058400-119060600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:119058400-119062200	Enhancers	Ovary	ovary
34	chr8:119058600-119059600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:119058600-119060600	Enhancers	Psoas Muscle	Psoas
36	chr8:119058600-119061800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr8:119058600-119062000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:119058600-119062200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:119058600-119062800	Enhancers	NH-A	brain
40	chr8:119058600-119062800	Enhancers	NHLF	lung
41	chr8:119058800-119059600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr8:119058800-119060000	Weak transcription	Pancreas	Pancrea
43	chr8:119058800-119060600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:119058800-119061200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr8:119058800-119061400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:119058800-119061600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:119058800-119061600	Weak transcription	Aorta	Aorta
48	chr8:119058800-119061600	Weak transcription	Gastric	stomach
49	chr8:119058800-119061600	Weak transcription	Left Ventricle	heart
50	chr8:119058800-119061600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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