Variant report

Variant	rs4513821
Chromosome Location	chr6:131242012-131242013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10499177	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11969461	0.91[CHB][hapmap]
rs12527605	0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs12528626	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12529894	0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs12660135	0.89[ASN][1000 genomes]
rs12661651	0.89[ASN][1000 genomes]
rs12663183	0.92[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs1332492	0.91[CHB][hapmap]
rs17059678	0.92[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs17059736	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17059852	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs1855078	0.91[CHB][hapmap]
rs2008593	0.84[CHB][hapmap]
rs2327006	0.91[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs3777452	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3798251	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs67836126	0.91[ASN][1000 genomes]
rs6923182	0.91[CHB][hapmap]
rs6927047	0.82[CHB][hapmap]
rs6941909	0.89[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs72985722	0.81[ASN][1000 genomes]
rs72998266	0.93[ASN][1000 genomes]
rs73000206	0.91[ASN][1000 genomes]
rs73000216	0.95[ASN][1000 genomes]
rs73000246	0.98[ASN][1000 genomes]
rs73000272	0.98[ASN][1000 genomes]
rs915171	0.86[JPT][hapmap];0.91[LWK][hapmap];0.85[MKK][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs928592	1.00[JPT][hapmap]
rs9321258	0.98[ASN][1000 genomes]
rs9483193	0.98[ASN][1000 genomes]
rs9483194	0.98[ASN][1000 genomes]
rs9483195	0.98[ASN][1000 genomes]
rs9492759	0.98[ASN][1000 genomes]
rs9492762	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9492763	0.98[ASN][1000 genomes]
rs9492768	0.88[ASN][1000 genomes]
rs9492776	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs9492782	0.91[CHB][hapmap]
rs9492784	0.91[CHB][hapmap]
rs9492785	0.91[CHB][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4513821	EPB41L2	cis	parietal	SCAN
rs4513821	ALDH8A1	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131220600-131281200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:131222200-131248400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:131222200-131251800	Weak transcription	Primary B cells from cord blood	blood
4	chr6:131222400-131248600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:131228800-131245800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:131229400-131245200	Weak transcription	Adipose Nuclei	Adipose
7	chr6:131229600-131245400	Weak transcription	NHLF	lung
8	chr6:131229600-131248600	Weak transcription	Stomach Mucosa	stomach
9	chr6:131229600-131249600	Weak transcription	Osteobl	bone
10	chr6:131229800-131242400	Weak transcription	HepG2	liver
11	chr6:131234000-131250200	Weak transcription	Ovary	ovary
12	chr6:131234000-131250600	Weak transcription	Fetal Stomach	stomach
13	chr6:131234600-131244200	Weak transcription	Brain Substantia Nigra	brain
14	chr6:131234600-131244200	Weak transcription	Small Intestine	intestine
15	chr6:131234600-131244600	Weak transcription	Left Ventricle	heart
16	chr6:131234600-131248600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:131234600-131249400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:131234600-131250200	Weak transcription	Pancreas	Pancrea
19	chr6:131234800-131244400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:131234800-131245000	Weak transcription	HSMM	muscle
21	chr6:131234800-131246800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr6:131234800-131247200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:131234800-131254000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:131234800-131266600	Weak transcription	GM12878-XiMat	blood
25	chr6:131235800-131244200	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:131236400-131254000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:131238000-131244800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:131238400-131242200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:131238400-131248800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:131238400-131249800	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:131238400-131250200	Weak transcription	Aorta	Aorta
32	chr6:131239200-131252600	Weak transcription	Dnd41	blood
33	chr6:131239800-131244200	Weak transcription	Fetal Lung	lung
34	chr6:131240000-131253600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:131242000-131242400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:131242000-131242600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:131242000-131242800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:131242000-131244600	Weak transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links