Variant report

Variant	rs7013189
Chromosome Location	chr8:62419120-62419121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10086389	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs10086644	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs10101416	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10106575	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106775	0.92[ASN][1000 genomes]
rs10109999	0.91[ASN][1000 genomes]
rs10111010	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10113272	0.91[ASN][1000 genomes]
rs11774171	0.81[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs11984530	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1320081	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs13253460	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1532255	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16918881	0.92[CEU][hapmap];0.80[CHD][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs16927435	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs16927440	0.83[MEX][hapmap]
rs16927449	0.84[JPT][hapmap];0.81[YRI][hapmap]
rs16927470	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.91[ASN][1000 genomes]
rs16927479	0.91[ASN][1000 genomes]
rs1968990	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2087900	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2101707	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2350617	0.82[CHB][hapmap];0.80[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs2350618	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs2610522	0.82[ASN][1000 genomes]
rs2640235	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2640239	0.88[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2640241	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34344679	0.91[ASN][1000 genomes]
rs3802286	0.82[CHB][hapmap];0.80[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs3922836	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4400380	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs4416815	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.92[ASN][1000 genomes]
rs4510853	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4537294	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4612335	0.83[CHB][hapmap]
rs4737587	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4738903	0.83[CHB][hapmap]
rs56007602	0.90[EUR][1000 genomes]
rs61397046	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471958	0.82[CHB][hapmap];0.80[JPT][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs67210846	0.91[ASN][1000 genomes]
rs6984604	0.82[CHB][hapmap];0.80[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs6987566	0.81[YRI][hapmap]
rs6992187	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7005455	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7011243	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72657089	0.81[EUR][1000 genomes]
rs7462486	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs7819628	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs7825172	0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap];0.91[ASN][1000 genomes]
rs7839203	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs7839363	0.82[CHB][hapmap];0.80[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs903027	0.92[CEU][hapmap];0.81[CHD][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]

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	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
9	nsv521898	chr8:62364663-62419120	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7013189	ARMC1	cis	parietal	SCAN

Chromatin state (count:88 , 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	chr8:62410600-62420400	Weak transcription	Gastric	stomach
9	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
10	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:62411400-62422200	Weak transcription	Spleen	Spleen
12	chr8:62411600-62429800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:62412000-62426000	Strong transcription	Adipose Nuclei	Adipose
14	chr8:62412000-62455600	Strong transcription	A549	lung
15	chr8:62412200-62420400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:62412200-62420400	Weak transcription	Lung	lung
17	chr8:62412400-62428000	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:62412600-62419200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:62412600-62425800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:62412600-62428200	Weak transcription	HepG2	liver
21	chr8:62412800-62419600	Strong transcription	NH-A	brain
22	chr8:62412800-62438800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:62413400-62428200	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:62413400-62436000	Weak transcription	Small Intestine	intestine
25	chr8:62413800-62429600	Weak transcription	HSMMtube	muscle
26	chr8:62414000-62420400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:62414000-62421800	Strong transcription	Osteobl	bone
28	chr8:62414200-62428000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:62414200-62428200	Weak transcription	Brain Substantia Nigra	brain
30	chr8:62414200-62455400	Weak transcription	Fetal Lung	lung
31	chr8:62414400-62419200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr8:62414400-62419600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:62414400-62420400	Weak transcription	Fetal Stomach	stomach
34	chr8:62414400-62420600	Weak transcription	Brain Germinal Matrix	brain
35	chr8:62414400-62424400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:62414400-62429800	Weak transcription	Colonic Mucosa	Colon
37	chr8:62414600-62420600	Strong transcription	NHLF	lung
38	chr8:62414600-62424600	Weak transcription	K562	blood
39	chr8:62414600-62448800	Weak transcription	HUVEC	blood vessel
40	chr8:62414800-62419200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:62414800-62419400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
43	chr8:62415000-62430400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:62415400-62426400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:62415600-62430800	Strong transcription	Liver	Liver
46	chr8:62415600-62437200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:62415800-62420000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:62415800-62420200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:62415800-62420200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:62415800-62427200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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