Variant report

Variant	rs7838239
Chromosome Location	chr8:99757016-99757017
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10447977	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10755896	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs10755897	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs10955189	0.81[AMR][1000 genomes]
rs10955190	0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11774463	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11778767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11780500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11785245	0.86[JPT][hapmap]
rs12114834	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12541317	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12542758	1.00[YRI][hapmap]
rs12547297	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12549803	0.90[JPT][hapmap]
rs12550783	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12677183	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs12679734	0.91[CHB][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12680195	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs13269932	0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes]
rs13275915	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13279438	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1447245	0.86[CHB][hapmap]
rs1476181	0.96[CHB][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16897076	0.82[CHB][hapmap]
rs1961744	0.81[AMR][1000 genomes]
rs2442012	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2442014	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2515214	0.95[CHB][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2922066	0.86[CHB][hapmap]
rs2922073	0.81[AMR][1000 genomes]
rs2922074	0.81[AMR][1000 genomes]
rs2922075	0.85[AMR][1000 genomes]
rs2922076	0.91[CHB][hapmap];0.81[AMR][1000 genomes]
rs2922078	0.95[CHB][hapmap];0.85[AMR][1000 genomes]
rs2922081	0.85[AMR][1000 genomes]
rs2922082	0.91[CHB][hapmap];0.82[AMR][1000 genomes]
rs3019293	0.85[AMR][1000 genomes]
rs34114299	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs34281206	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34366206	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34855977	0.87[AMR][1000 genomes]
rs35536167	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35798019	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35804297	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35915594	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4131873	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4255105	0.91[CHB][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4279561	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4304299	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4323440	0.85[ASN][1000 genomes]
rs4413739	0.96[CHB][hapmap];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4440607	0.86[AMR][1000 genomes]
rs4509292	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs4517094	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs4541872	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4549741	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4562286	0.95[CHB][hapmap];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4612309	0.85[AMR][1000 genomes]
rs4734410	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4734414	0.82[AMR][1000 genomes]
rs4735569	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4735574	0.91[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57034072	0.85[ASN][1000 genomes]
rs58321500	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62532565	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62532577	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62532587	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6651182	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs6988087	1.00[JPT][hapmap]
rs6992925	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs72666694	0.86[ASN][1000 genomes]
rs7818828	0.86[JPT][hapmap]

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	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1025685	chr8:99706280-99826236	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv539691	chr8:99706280-99826236	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99728200-99757200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:99738400-99758000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:99739600-99757200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:99739600-99776400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:99739800-99757800	Weak transcription	NHEK	skin
6	chr8:99739800-99758000	Weak transcription	Ovary	ovary
7	chr8:99740000-99757200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:99741600-99794200	Weak transcription	Pancreas	Pancrea
9	chr8:99743200-99763400	Weak transcription	Right Ventricle	heart
10	chr8:99743400-99777200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:99746600-99789400	Weak transcription	Psoas Muscle	Psoas
12	chr8:99747600-99758000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:99747800-99763000	Weak transcription	Osteobl	bone
14	chr8:99748000-99758000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:99748000-99759000	Weak transcription	NHDF-Ad	bronchial
16	chr8:99748600-99757200	Weak transcription	Liver	Liver
17	chr8:99748600-99777200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:99751000-99757200	Weak transcription	A549	lung
19	chr8:99751000-99760800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:99754200-99761600	Weak transcription	HSMMtube	muscle
21	chr8:99754200-99777600	Weak transcription	Left Ventricle	heart
22	chr8:99755400-99757800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:99755400-99757800	Weak transcription	HSMM	muscle
24	chr8:99755800-99758000	Weak transcription	NH-A	brain
25	chr8:99756000-99758200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:99756200-99758600	Weak transcription	Aorta	Aorta
27	chr8:99756200-99776800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:99756400-99758600	Weak transcription	Fetal Intestine Large	intestine
29	chr8:99756600-99757400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:99756600-99758600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:99756600-99758600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr8:99756600-99777200	Weak transcription	HMEC	breast
33	chr8:99756800-99757800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:99756800-99760600	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:99756800-99776400	Weak transcription	Placenta	Placenta
36	chr8:99757000-99757200	Enhancers	GM12878-XiMat	blood
37	chr8:99757000-99757600	Enhancers	Fetal Heart	heart
38	chr8:99757000-99758800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:99757000-99759200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr8:99757000-99760000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:99757000-99760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:99757000-99761600	Weak transcription	HUVEC	blood vessel

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