Variant report

Variant	rs11154611
Chromosome Location	chr6:131288001-131288002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:131285017..131288807-chr6:131289178..131292280,3	K562	blood:
2	chr6:131286503..131288563-chr6:131317280..131319051,2	K562	blood:
3	chr6:131287420..131290006-chr6:131292145..131295330,3	K562	blood:

Variant related genes	Relation type
ENSG00000079819	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10872375	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11760051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195366	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12196734	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12197829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12203760	0.86[ASN][1000 genomes]
rs12214021	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1569195	0.86[ASN][1000 genomes]
rs17059954	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1976981	0.85[ASN][1000 genomes]
rs2151068	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2178282	0.86[ASN][1000 genomes]
rs28812545	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4259270	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4498389	0.86[ASN][1000 genomes]
rs62423583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6901548	0.86[ASN][1000 genomes]
rs6902930	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6903705	0.86[ASN][1000 genomes]
rs6905151	0.86[ASN][1000 genomes]
rs6916206	0.83[ASN][1000 genomes]
rs6921542	0.86[ASN][1000 genomes]
rs6926372	0.86[ASN][1000 genomes]
rs7763960	0.85[ASN][1000 genomes]
rs7770892	0.86[ASN][1000 genomes]
rs9321264	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9372987	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9372989	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9375784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9375785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9375787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9375788	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9375789	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9375790	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9375794	0.86[ASN][1000 genomes]
rs9375795	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9375796	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9375797	0.86[ASN][1000 genomes]
rs9388873	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9388876	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9388880	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9398967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9398969	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9398970	0.86[ASN][1000 genomes]
rs9398971	0.86[ASN][1000 genomes]
rs9398972	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9398973	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9398975	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9398976	0.86[EUR][1000 genomes]
rs9402301	0.98[ASN][1000 genomes]
rs9402306	0.98[ASN][1000 genomes]
rs9402310	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9402313	0.86[ASN][1000 genomes]
rs9402314	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9483210	0.86[ASN][1000 genomes]
rs9492790	0.83[ASN][1000 genomes]
rs9492792	0.86[ASN][1000 genomes]
rs951251	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs954919	0.86[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11154611	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131253000-131302200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:131255400-131288800	Weak transcription	Fetal Kidney	kidney
3	chr6:131267000-131294800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:131267800-131288200	Weak transcription	NH-A	brain
5	chr6:131269000-131290400	Weak transcription	Right Ventricle	heart
6	chr6:131272200-131301000	Weak transcription	Placenta	Placenta
7	chr6:131272800-131289000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:131274400-131289000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:131276400-131288800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:131277000-131288600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:131277400-131290000	Weak transcription	Fetal Intestine Small	intestine
12	chr6:131277600-131288800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:131280000-131288200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:131284400-131288400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:131284400-131288600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:131284400-131289200	Weak transcription	Left Ventricle	heart
17	chr6:131285400-131288200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:131285400-131288400	Enhancers	Fetal Lung	lung
19	chr6:131286000-131288400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:131286000-131288400	Enhancers	Adipose Nuclei	Adipose
21	chr6:131286000-131289200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:131286200-131288200	Weak transcription	Fetal Thymus	thymus
23	chr6:131286200-131288400	Enhancers	HSMM	muscle
24	chr6:131286200-131288800	Enhancers	HSMMtube	muscle
25	chr6:131286200-131289000	Enhancers	Osteobl	bone
26	chr6:131286200-131290800	Weak transcription	Liver	Liver
27	chr6:131286200-131293600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:131286800-131289200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:131286800-131289200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:131286800-131290200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:131286800-131291600	Active TSS	Aorta	Aorta
32	chr6:131287000-131288200	Weak transcription	HUVEC	blood vessel
33	chr6:131287000-131288600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:131287000-131289400	Enhancers	NHDF-Ad	bronchial
35	chr6:131287000-131290800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:131287200-131288200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:131287200-131289200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:131287200-131289200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr6:131287200-131289800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:131287400-131288600	Weak transcription	HepG2	liver
41	chr6:131287400-131289400	Enhancers	Brain Cingulate Gyrus	brain
42	chr6:131287400-131289600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:131287400-131290800	Enhancers	Fetal Heart	heart
44	chr6:131287600-131288600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:131287600-131288800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr6:131287600-131289000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr6:131287600-131289000	Enhancers	Brain Angular Gyrus	brain
48	chr6:131287600-131289000	Enhancers	Brain Anterior Caudate	brain
49	chr6:131287600-131289200	Enhancers	Brain Substantia Nigra	brain
50	chr6:131287600-131289400	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links