Variant report

Variant	rs6483346
Chromosome Location	chr11:94288651-94288652
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:94287772..94289293-chr11:94298771..94301648,2	K562	blood:
2	chr11:94285169..94289502-chr11:94294519..94298132,4	K562	blood:
3	chr11:94287391..94290092-chr11:94294567..94296620,2	MCF-7	breast:
4	chr11:94275890..94279465-chr11:94286171..94290073,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196371	Chromatin interaction
ENSG00000134627	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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[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];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[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]
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];0.81[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7927312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[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];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[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];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7946385	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]
rs7946916	0.93[EUR][1000 genomes]
rs7950626	0.94[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9919636	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6483346	C11orf54	cis	cerebellum	SCAN
rs6483346	MED17	cis	parietal	SCAN
rs6483346	MED17	cis	cerebellum	SCAN

Chromatin state (count:37 , 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	chr11:94279600-94290200	Weak transcription	HSMM	muscle
3	chr11:94280400-94291200	Weak transcription	NHLF	lung
4	chr11:94280600-94296200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:94280800-94289800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:94281000-94289800	Weak transcription	Osteobl	bone
7	chr11:94281000-94290000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:94281000-94290200	Weak transcription	NHDF-Ad	bronchial
9	chr11:94281000-94319200	Weak transcription	Aorta	Aorta
10	chr11:94282000-94296000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:94282200-94317400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:94282200-94322600	Weak transcription	Brain Anterior Caudate	brain
13	chr11:94282600-94290200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:94282600-94296200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:94282600-94298200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:94282600-94322200	Weak transcription	Fetal Stomach	stomach
17	chr11:94282800-94290200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:94282800-94291200	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:94283400-94292600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:94283600-94289800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:94284000-94289800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:94284000-94292000	Weak transcription	Primary B cells from cord blood	blood
23	chr11:94284000-94292600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:94284000-94296400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr11:94284000-94323400	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:94284200-94303400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:94284400-94288800	Weak transcription	Fetal Thymus	thymus
28	chr11:94287600-94293200	Weak transcription	Gastric	stomach
29	chr11:94287600-94294200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr11:94287600-94296200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:94287600-94297000	Weak transcription	Fetal Intestine Small	intestine
32	chr11:94287800-94289800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr11:94287800-94292800	Weak transcription	Stomach Mucosa	stomach
34	chr11:94287800-94297400	Weak transcription	Small Intestine	intestine
35	chr11:94288000-94289800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr11:94288000-94291400	Weak transcription	Fetal Intestine Large	intestine
37	chr11:94288000-94296200	Weak transcription	Pancreas	Pancrea

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