Variant report

Variant	rs7917163
Chromosome Location	chr10:94316828-94316829
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11187061	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11187074	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11187126	1.00[ASW][hapmap]
rs12256435	1.00[ASW][hapmap]
rs12262390	1.00[ASW][hapmap]
rs1855916	0.85[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1887922	0.82[EUR][1000 genomes]
rs1970245	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1987122	0.86[EUR][1000 genomes]
rs4406744	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs520711	0.81[EUR][1000 genomes]
rs551266	0.82[EUR][1000 genomes]
rs6583819	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6583821	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7073248	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7084090	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7093418	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7097014	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7100623	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7894448	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7898493	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7908111	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7909636	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv895895	chr10:94304132-94372706	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7917163	MARCH5	cis	cerebellum	SCAN
rs7917163	BLNK	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94267800-94328800	Weak transcription	Fetal Heart	heart
2	chr10:94272000-94317200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:94272200-94332000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr10:94272200-94332200	Weak transcription	Gastric	stomach
5	chr10:94277200-94331200	Weak transcription	Stomach Mucosa	stomach
6	chr10:94277800-94332200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr10:94290400-94318800	Weak transcription	Right Ventricle	heart
8	chr10:94295400-94318000	Weak transcription	NH-A	brain
9	chr10:94295600-94318600	Weak transcription	Fetal Kidney	kidney
10	chr10:94298600-94318600	Weak transcription	Hela-S3	cervix
11	chr10:94304600-94318800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr10:94304600-94318800	Weak transcription	K562	blood
13	chr10:94304600-94331400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr10:94305400-94318800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr10:94305400-94323600	Weak transcription	HMEC	breast
16	chr10:94310200-94325000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:94313800-94327000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:94314200-94317200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:94314200-94317600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:94314200-94318800	Weak transcription	HSMMtube	muscle
21	chr10:94314200-94319000	Weak transcription	NHEK	skin
22	chr10:94314200-94320200	Weak transcription	Esophagus	oesophagus
23	chr10:94314200-94320800	Strong transcription	Dnd41	blood
24	chr10:94314200-94325800	Weak transcription	Pancreas	Pancrea
25	chr10:94314200-94326800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr10:94314200-94327200	Weak transcription	Brain Anterior Caudate	brain
27	chr10:94314200-94328800	Weak transcription	NHLF	lung
28	chr10:94314200-94331000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr10:94314200-94331200	Weak transcription	Brain Substantia Nigra	brain
30	chr10:94314200-94331200	Weak transcription	Small Intestine	intestine
31	chr10:94314200-94331400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr10:94314200-94331400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:94314200-94331600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr10:94314200-94332000	Weak transcription	Colonic Mucosa	Colon
35	chr10:94314400-94317000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:94314400-94317200	Strong transcription	Placenta	Placenta
37	chr10:94314400-94317600	Strong transcription	Fetal Thymus	thymus
38	chr10:94314400-94318400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:94314400-94318400	Weak transcription	Brain Hippocampus Middle	brain
40	chr10:94314400-94318800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr10:94314400-94318800	Weak transcription	Brain Germinal Matrix	brain
42	chr10:94314400-94318800	Weak transcription	Fetal Brain Male	brain
43	chr10:94314400-94318800	Weak transcription	Fetal Intestine Large	intestine
44	chr10:94314400-94320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr10:94314400-94320000	Weak transcription	Thymus	Thymus
46	chr10:94314400-94320000	Weak transcription	Spleen	Spleen
47	chr10:94314400-94320400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr10:94314400-94320400	Strong transcription	Liver	Liver
49	chr10:94314400-94323600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr10:94314400-94327800	Weak transcription	NHDF-Ad	bronchial

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