Variant report

Variant	rs551266
Chromosome Location	chr10:94222624-94222625
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11187061	0.82[CEU][hapmap];0.86[CHB][hapmap];0.85[EUR][1000 genomes]
rs11187074	0.85[EUR][1000 genomes]
rs1855916	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1887922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1970245	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1987122	0.82[EUR][1000 genomes]
rs2251101	0.94[ASN][1000 genomes]
rs3118967	0.84[ASN][1000 genomes]
rs4406744	0.85[EUR][1000 genomes]
rs520711	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6583819	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6583821	0.85[EUR][1000 genomes]
rs7073248	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7084090	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7093418	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7097014	0.83[EUR][1000 genomes]
rs7100623	0.85[EUR][1000 genomes]
rs7894448	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7898493	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7908111	0.85[EUR][1000 genomes]
rs7909636	0.85[EUR][1000 genomes]
rs7917163	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv508600	chr10:94115025-94231917	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv551924	chr10:94212742-94290484	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs551266	BLNK	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94208000-94223600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:94208000-94224000	Weak transcription	Fetal Kidney	kidney
3	chr10:94208400-94276800	Weak transcription	Stomach Mucosa	stomach
4	chr10:94209000-94225800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:94209400-94225800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:94209400-94231400	Strong transcription	Duodenum Mucosa	Duodenum
7	chr10:94209800-94234400	Weak transcription	Fetal Heart	heart
8	chr10:94210000-94224200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr10:94210000-94224800	Weak transcription	Brain Germinal Matrix	brain
10	chr10:94210000-94243000	Weak transcription	Fetal Brain Female	brain
11	chr10:94210400-94231800	Strong transcription	Adipose Nuclei	Adipose
12	chr10:94210400-94235600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:94210400-94239200	Weak transcription	Fetal Brain Male	brain
14	chr10:94210600-94231800	Strong transcription	Liver	Liver
15	chr10:94210600-94250000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr10:94211000-94235600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:94211200-94225800	Strong transcription	Osteobl	bone
18	chr10:94211400-94225800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr10:94211400-94231800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr10:94211400-94235600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr10:94211400-94235800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:94211400-94253200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:94211800-94230600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:94212000-94232400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:94212200-94225800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr10:94212400-94233800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr10:94212600-94224800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr10:94212800-94224200	Weak transcription	NHLF	lung
29	chr10:94212800-94270400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr10:94214200-94226400	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr10:94214200-94230400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr10:94214400-94234200	Strong transcription	Fetal Stomach	stomach
33	chr10:94215000-94222800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr10:94216200-94224800	Weak transcription	Colonic Mucosa	Colon
35	chr10:94216200-94225000	Weak transcription	NHDF-Ad	bronchial
36	chr10:94216400-94222800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr10:94216400-94223400	Weak transcription	Hela-S3	cervix
38	chr10:94216400-94223600	Weak transcription	Brain Substantia Nigra	brain
39	chr10:94216400-94224200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr10:94216600-94223400	Weak transcription	Gastric	stomach
41	chr10:94217000-94228600	Weak transcription	Esophagus	oesophagus
42	chr10:94217200-94225800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr10:94217200-94232400	Weak transcription	Small Intestine	intestine
44	chr10:94217400-94222800	Weak transcription	K562	blood
45	chr10:94217400-94251800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:94217600-94270200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr10:94217800-94223600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr10:94217800-94224200	Weak transcription	Pancreas	Pancrea
49	chr10:94217800-94229200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:94217800-94230400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links