Variant report

Variant	rs2100617
Chromosome Location	chr8:119050129-119050130
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10088107	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10088828	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10095646	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10099230	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10104745	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10106128	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1020916	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10216949	0.82[EUR][1000 genomes]
rs10505325	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10955850	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10955851	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10955852	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11562725	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11562727	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11562814	0.85[AMR][1000 genomes]
rs1188	0.82[EUR][1000 genomes]
rs12541849	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544344	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13264371	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13271950	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13277304	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13277610	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13282822	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2124959	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4876399	0.92[ASN][1000 genomes]
rs6990802	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6997001	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7004377	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73325947	0.91[ASN][1000 genomes]
rs7357466	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7357586	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7357588	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7813805	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7819492	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7829981	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7832327	0.91[ASN][1000 genomes]
rs7833710	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs881989	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9649944	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9650073	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	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
6	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

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119040600-119052600	Weak transcription	Left Ventricle	heart
2	chr8:119042400-119052000	Weak transcription	Adipose Nuclei	Adipose
3	chr8:119043200-119050800	Enhancers	HMEC	breast
4	chr8:119043400-119054400	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:119043400-119054400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:119044400-119051200	Weak transcription	Fetal Kidney	kidney
7	chr8:119044600-119056600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:119044800-119053000	Weak transcription	Fetal Intestine Large	intestine
9	chr8:119046400-119051200	Enhancers	NHLF	lung
10	chr8:119046600-119051000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:119047000-119050600	Weak transcription	Right Atrium	heart
12	chr8:119047000-119055200	Weak transcription	Psoas Muscle	Psoas
13	chr8:119047000-119055400	Weak transcription	Fetal Heart	heart
14	chr8:119047000-119061000	Weak transcription	Primary T cells from cord blood	blood
15	chr8:119047200-119051200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:119047200-119052400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:119047200-119060400	Weak transcription	Stomach Mucosa	stomach
18	chr8:119047400-119051000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:119047600-119052600	Weak transcription	Ovary	ovary
20	chr8:119047600-119053000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:119047600-119054400	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:119047600-119054400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:119047600-119059000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:119048000-119050600	Weak transcription	Aorta	Aorta
25	chr8:119048000-119051400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:119048000-119051800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:119048400-119050400	Enhancers	Pancreas	Pancrea
28	chr8:119048400-119051200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:119048400-119055000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:119048600-119051200	Enhancers	Osteobl	bone
31	chr8:119048600-119052000	Weak transcription	Fetal Lung	lung
32	chr8:119048600-119055600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:119048600-119063800	Weak transcription	HSMMtube	muscle
34	chr8:119049000-119058600	Weak transcription	NH-A	brain
35	chr8:119049200-119051400	Enhancers	NHEK	skin
36	chr8:119049200-119057000	Weak transcription	Fetal Intestine Small	intestine
37	chr8:119049200-119058400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:119049200-119058800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr8:119049400-119052400	Weak transcription	HUVEC	blood vessel
40	chr8:119049400-119057800	Enhancers	Liver	Liver
41	chr8:119049400-119059200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:119049600-119050600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:119049600-119052800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:119049600-119058400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:119049600-119059000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:119049600-119061600	Weak transcription	Esophagus	oesophagus
47	chr8:119049800-119050200	Weak transcription	NHDF-Ad	bronchial
48	chr8:119049800-119050600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:119049800-119050600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:119049800-119052600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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