Variant report

Variant	rs7462118
Chromosome Location	chr8:118917687-118917688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	8:118911988-118922970..8:119208477-119211356	GM12878	blood:

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

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10088632	1.00[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10109062	1.00[CEU][hapmap]
rs11562730	1.00[CEU][hapmap]
rs11562757	1.00[CEU][hapmap]
rs11562766	1.00[CEU][hapmap]
rs13265594	1.00[EUR][1000 genomes]
rs17474839	1.00[CEU][hapmap]
rs17475323	1.00[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475337	0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475344	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475351	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475358	1.00[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475365	1.00[CEU][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17475694	1.00[CEU][hapmap]
rs17475722	1.00[CEU][hapmap]
rs17475743	1.00[CEU][hapmap]
rs17475785	1.00[CEU][hapmap]
rs17475918	1.00[CEU][hapmap]
rs17476247	1.00[CEU][hapmap]
rs17477049	1.00[CEU][hapmap]
rs17477476	1.00[EUR][1000 genomes]
rs17504170	1.00[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17504205	1.00[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17504743	1.00[CEU][hapmap]
rs17505079	1.00[CEU][hapmap]
rs17506336	1.00[EUR][1000 genomes]
rs2019967	1.00[EUR][1000 genomes]
rs28376539	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28429320	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28626687	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3101578	1.00[EUR][1000 genomes]
rs3134313	1.00[EUR][1000 genomes]
rs4242577	1.00[EUR][1000 genomes]
rs4377987	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4556109	1.00[CEU][hapmap]
rs59529135	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60815148	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984750	1.00[CEU][hapmap]
rs6999867	1.00[EUR][1000 genomes]
rs73312336	1.00[EUR][1000 genomes]
rs73312339	1.00[EUR][1000 genomes]
rs7357537	1.00[CEU][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704827	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704828	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704829	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704830	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704831	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833960	1.00[EUR][1000 genomes]
rs9297572	1.00[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9656804	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9656924	1.00[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9792392	1.00[CEU][hapmap]

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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118908000-118918200	Weak transcription	HSMMtube	muscle
2	chr8:118908800-118925800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:118909600-118922200	Weak transcription	Right Ventricle	heart
4	chr8:118909800-118923000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:118911400-118921800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:118912000-118925800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:118913000-118918800	Weak transcription	Aorta	Aorta
8	chr8:118913000-118922000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:118913000-118922600	Weak transcription	Lung	lung
10	chr8:118913000-118923200	Weak transcription	Gastric	stomach
11	chr8:118913400-118918400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:118913400-118922600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:118913400-118925600	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:118913600-118918200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:118915000-118918600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:118915000-118919200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:118915200-118918200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:118915200-118918200	Weak transcription	HSMM	muscle
19	chr8:118915400-118918200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:118915400-118918200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:118915400-118918200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:118915400-118918200	Weak transcription	NHEK	skin
23	chr8:118915400-118922400	Weak transcription	Fetal Heart	heart
24	chr8:118915600-118918400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:118915600-118918400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:118915600-118922200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:118915800-118918000	Weak transcription	NH-A	brain
28	chr8:118915800-118918200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:118915800-118918200	Weak transcription	HUVEC	blood vessel
30	chr8:118915800-118918400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:118916200-118918400	Enhancers	Small Intestine	intestine
32	chr8:118916200-118925800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:118916400-118918200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:118916400-118918200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:118916400-118918400	Weak transcription	Fetal Lung	lung
36	chr8:118916400-118919000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:118916600-118918800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:118916800-118917800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:118917000-118918000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:118917000-118918000	Weak transcription	NHDF-Ad	bronchial
41	chr8:118917000-118918800	Enhancers	Stomach Mucosa	stomach
42	chr8:118917000-118920400	Enhancers	Osteobl	bone
43	chr8:118917400-118917800	Enhancers	Esophagus	oesophagus
44	chr8:118917400-118917800	Weak transcription	A549	lung
45	chr8:118917400-118918000	Enhancers	Ovary	ovary
46	chr8:118917400-118918800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr8:118917400-118919000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr8:118917400-118919800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:118917400-118920200	Enhancers	HMEC	breast
50	chr8:118917600-118918000	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links