Variant report

Variant	rs17200413
Chromosome Location	chr8:62420452-62420453
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10093414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10107557	0.84[CEU][hapmap]
rs10504327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10504328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10504329	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10504330	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13256758	0.86[JPT][hapmap]
rs13270887	0.85[JPT][hapmap];1.00[YRI][hapmap]
rs16927347	0.84[CEU][hapmap]
rs16927446	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16927448	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16927460	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16927536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs16927566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs17198387	1.00[YRI][hapmap]
rs17200553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17200623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17201182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17201219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17788825	0.92[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs17788873	0.92[CEU][hapmap];0.88[JPT][hapmap]
rs17789341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17790020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17790471	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];0.92[ASN][1000 genomes]
rs17790639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2279573	0.88[JPT][hapmap];1.00[YRI][hapmap]
rs2445	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2610520	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs2640232	1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs2640237	1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs4487757	0.84[CEU][hapmap]
rs4507756	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59333700	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61252075	0.83[EUR][1000 genomes]
rs73263176	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7830314	0.92[CEU][hapmap]
rs7839684	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62408600-62427800	Weak transcription	Fetal Intestine Large	intestine
2	chr8:62408600-62430800	Weak transcription	Fetal Brain Male	brain
3	chr8:62408800-62427600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:62408800-62432000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:62409000-62427800	Weak transcription	HMEC	breast
6	chr8:62409200-62426000	Weak transcription	Fetal Intestine Small	intestine
7	chr8:62409400-62421200	Weak transcription	Brain Anterior Caudate	brain
8	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
9	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:62411400-62422200	Weak transcription	Spleen	Spleen
11	chr8:62411600-62429800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:62412000-62426000	Strong transcription	Adipose Nuclei	Adipose
13	chr8:62412000-62455600	Strong transcription	A549	lung
14	chr8:62412400-62428000	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:62412600-62425800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:62412600-62428200	Weak transcription	HepG2	liver
17	chr8:62412800-62438800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:62413400-62428200	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:62413400-62436000	Weak transcription	Small Intestine	intestine
20	chr8:62413800-62429600	Weak transcription	HSMMtube	muscle
21	chr8:62414000-62421800	Strong transcription	Osteobl	bone
22	chr8:62414200-62428000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:62414200-62428200	Weak transcription	Brain Substantia Nigra	brain
24	chr8:62414200-62455400	Weak transcription	Fetal Lung	lung
25	chr8:62414400-62420600	Weak transcription	Brain Germinal Matrix	brain
26	chr8:62414400-62424400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:62414400-62429800	Weak transcription	Colonic Mucosa	Colon
28	chr8:62414600-62420600	Strong transcription	NHLF	lung
29	chr8:62414600-62424600	Weak transcription	K562	blood
30	chr8:62414600-62448800	Weak transcription	HUVEC	blood vessel
31	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
32	chr8:62415000-62430400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:62415400-62426400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:62415600-62430800	Strong transcription	Liver	Liver
35	chr8:62415600-62437200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:62415800-62427200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:62416000-62426000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:62416000-62441400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:62416200-62422200	Weak transcription	Aorta	Aorta
40	chr8:62416200-62422200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:62416200-62423200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:62416200-62424600	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:62416200-62426400	Weak transcription	Left Ventricle	heart
44	chr8:62416200-62427600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:62416200-62428400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr8:62416200-62429600	Weak transcription	Esophagus	oesophagus
47	chr8:62416200-62429600	Weak transcription	Fetal Brain Female	brain
48	chr8:62416400-62424000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:62416400-62424600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:62416400-62429000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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