Variant report

Variant	rs2073618
Chromosome Location	chr8:119964052-119964053
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10101385	0.91[ASN][1000 genomes]
rs10505348	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10955908	0.86[ASN][1000 genomes]
rs10955915	0.99[ASN][1000 genomes]
rs11573823	0.85[YRI][hapmap]
rs11573824	0.95[ASN][1000 genomes]
rs11573829	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11573847	0.85[YRI][hapmap]
rs11573878	0.85[YRI][hapmap]
rs11573884	0.85[YRI][hapmap]
rs11573885	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11573888	0.85[YRI][hapmap]
rs11573938	0.85[YRI][hapmap]
rs11992136	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs13250753	0.86[ASN][1000 genomes]
rs13254554	0.83[ASN][1000 genomes]
rs13270766	0.85[YRI][hapmap]
rs13270860	0.85[YRI][hapmap]
rs13277230	0.90[ASN][1000 genomes]
rs13439134	0.90[ASN][1000 genomes]
rs1385500	0.88[EUR][1000 genomes]
rs1385502	0.85[YRI][hapmap]
rs1385503	0.82[EUR][1000 genomes]
rs1485289	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1485302	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs1485303	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs1564858	0.85[YRI][hapmap]
rs1872426	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1905786	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1982763	0.96[ASN][1000 genomes]
rs2062375	0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2062377	0.80[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2220189	0.83[ASN][1000 genomes]
rs3134058	0.82[EUR][1000 genomes]
rs4242592	0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4319131	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4355801	0.91[ASN][1000 genomes]
rs4407910	0.90[ASN][1000 genomes]
rs4563920	0.93[ASN][1000 genomes]
rs4567065	0.83[ASN][1000 genomes]
rs4618726	0.83[ASN][1000 genomes]
rs4876869	0.93[ASN][1000 genomes]
rs4876876	0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs6415470	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6469788	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6469789	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6992497	0.96[ASN][1000 genomes]
rs6995365	0.85[YRI][hapmap]
rs7006553	0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7010043	0.83[ASN][1000 genomes]
rs7010267	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7014574	0.99[ASN][1000 genomes]
rs72680380	0.88[ASN][1000 genomes]
rs7463176	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7464496	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7828837	0.85[YRI][hapmap]
rs7842942	0.83[ASN][1000 genomes]
rs9969672	0.90[CHB][hapmap];0.94[JPT][hapmap]

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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119960600-119964800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:119960600-119965000	Active TSS	Aorta	Aorta
3	chr8:119961000-119965400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:119961200-119964800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:119961600-119964600	Active TSS	HSMMtube	muscle
6	chr8:119961600-119965200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:119962000-119964600	Active TSS	NHLF	lung
8	chr8:119962200-119964600	Active TSS	Osteobl	bone
9	chr8:119962200-119964800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:119962200-119964800	Active TSS	NHDF-Ad	bronchial
11	chr8:119962200-119965400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:119962600-119964400	Active TSS	NH-A	brain
13	chr8:119962600-119964600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:119962600-119964600	Active TSS	Liver	Liver
15	chr8:119962600-119964800	Active TSS	Fetal Intestine Large	intestine
16	chr8:119962600-119964800	Active TSS	Fetal Intestine Small	intestine
17	chr8:119962600-119965600	Bivalent/Poised TSS	Fetal Kidney	kidney
18	chr8:119963000-119964600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:119963000-119964600	Active TSS	Brain Hippocampus Middle	brain
20	chr8:119963000-119965000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr8:119963000-119965000	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr8:119963200-119964400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr8:119963200-119964600	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr8:119963200-119964800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr8:119963400-119964600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr8:119963400-119964600	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:119963400-119964800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr8:119963600-119964200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr8:119963600-119964200	Active TSS	Ovary	ovary
30	chr8:119963600-119964200	Flanking Bivalent TSS/Enh	HMEC	breast
31	chr8:119963600-119964400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:119963600-119964400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:119963600-119964400	Active TSS	Stomach Smooth Muscle	stomach
34	chr8:119963600-119964600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr8:119963600-119964600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:119963600-119964600	Active TSS	Brain Anterior Caudate	brain
37	chr8:119963600-119964600	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr8:119963600-119964600	Active TSS	Rectal Smooth Muscle	rectum
39	chr8:119963600-119964800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:119963600-119964800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr8:119963600-119964800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:119963600-119964800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:119963600-119964800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:119963600-119964800	Active TSS	Colonic Mucosa	Colon
45	chr8:119963600-119964800	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr8:119963600-119964800	Active TSS	Fetal Brain Female	brain
47	chr8:119963600-119964800	Active TSS	Fetal Heart	heart
48	chr8:119963600-119964800	Active TSS	Left Ventricle	heart
49	chr8:119963600-119964800	Active TSS	HSMM	muscle
50	chr8:119963600-119964800	Flanking Active TSS	HUVEC	blood vessel

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