Variant report

Variant	rs7908111
Chromosome Location	chr10:94314804-94314805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11187061	0.82[CEU][hapmap];1.00[CHB][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]
rs11187074	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1855916	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs1887922	0.85[EUR][1000 genomes]
rs1970245	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1987122	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3758504	0.88[AFR][1000 genomes]
rs4406744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520711	0.84[EUR][1000 genomes]
rs551266	0.85[EUR][1000 genomes]
rs6583819	0.88[EUR][1000 genomes]
rs6583821	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7073248	0.86[EUR][1000 genomes]
rs7084090	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7093418	0.86[EUR][1000 genomes]
rs7097014	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7100623	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7894448	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7898493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7909636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7917163	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
rs7908111	BLNK	cis	parietal	SCAN
rs7908111	CCNJ	cis	cerebellum	SCAN

Chromatin state (count:119 , 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	chr10:94312000-94316600	Weak transcription	HepG2	liver
18	chr10:94312800-94315000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr10:94312800-94315400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:94312800-94315800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:94313200-94315000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:94313200-94315000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr10:94313200-94315600	ZNF genes & repeats	Fetal Brain Female	brain
24	chr10:94313400-94315000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
25	chr10:94313400-94315000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr10:94313400-94315200	ZNF genes & repeats	Fetal Muscle Leg	muscle
27	chr10:94313400-94315600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:94313600-94315000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr10:94313600-94315200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr10:94313600-94315200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:94313600-94315200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:94313600-94315600	ZNF genes & repeats	GM12878-XiMat	blood
33	chr10:94313600-94315600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
34	chr10:94313800-94315000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:94313800-94315000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr10:94313800-94315000	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr10:94313800-94315200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
38	chr10:94313800-94315200	ZNF genes & repeats	Fetal Lung	lung
39	chr10:94313800-94315600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:94313800-94315600	Strong transcription	A549	lung
41	chr10:94313800-94315600	Strong transcription	Osteobl	bone
42	chr10:94313800-94316200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr10:94313800-94327000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:94314000-94315000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr10:94314000-94315000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr10:94314000-94315200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr10:94314000-94315200	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr10:94314000-94315600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr10:94314000-94315600	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr10:94314200-94315000	Strong transcription	Rectal Mucosa Donor 29	rectum

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