Variant report

Variant	rs7946385
Chromosome Location	chr11:94290449-94290450
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94276501..94280507-chr11:94288837..94292469,6	K562	blood:
2	chr11:94281593..94285373-chr11:94288859..94293120,4	K562	blood:

Variant related genes	Relation type
ENSG00000134627	Chromatin interaction
ENSG00000196371	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10741490	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10831239	0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11020832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11020851	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs1257380	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs591584	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs6483346	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6483348	0.81[ASN][1000 genomes]
rs7926082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7926234	0.90[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7927312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7927463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7929056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7946916	0.93[EUR][1000 genomes]
rs7950626	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9919636	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7946385	C11orf54	cis	cerebellum	SCAN
rs7946385	MED17	cis	parietal	SCAN
rs7946385	MED17	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94279200-94296000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:94280400-94291200	Weak transcription	NHLF	lung
3	chr11:94280600-94296200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:94281000-94319200	Weak transcription	Aorta	Aorta
5	chr11:94282000-94296000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:94282200-94317400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:94282200-94322600	Weak transcription	Brain Anterior Caudate	brain
8	chr11:94282600-94296200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:94282600-94298200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:94282600-94322200	Weak transcription	Fetal Stomach	stomach
11	chr11:94282800-94291200	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:94283400-94292600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:94284000-94292000	Weak transcription	Primary B cells from cord blood	blood
14	chr11:94284000-94292600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:94284000-94296400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:94284000-94323400	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:94284200-94303400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:94287600-94293200	Weak transcription	Gastric	stomach
19	chr11:94287600-94294200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr11:94287600-94296200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:94287600-94297000	Weak transcription	Fetal Intestine Small	intestine
22	chr11:94287800-94292800	Weak transcription	Stomach Mucosa	stomach
23	chr11:94287800-94297400	Weak transcription	Small Intestine	intestine
24	chr11:94288000-94291400	Weak transcription	Fetal Intestine Large	intestine
25	chr11:94288000-94296200	Weak transcription	Pancreas	Pancrea
26	chr11:94289800-94290600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr11:94289800-94291000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:94289800-94291400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr11:94289800-94293000	Enhancers	Osteobl	bone
30	chr11:94289800-94293800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr11:94290000-94290800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:94290000-94292000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:94290000-94293000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:94290200-94291600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr11:94290200-94291600	Enhancers	HSMM	muscle
36	chr11:94290200-94291600	Enhancers	NH-A	brain
37	chr11:94290200-94291800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:94290200-94292000	Enhancers	NHDF-Ad	bronchial
39	chr11:94290200-94293600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:94290400-94290600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links