Variant report

Variant	rs11606433
Chromosome Location	chr11:36328630-36328631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36328381..36329026-chr11:36500369..36500951,3	K562	blood:
2	chr11:36328245..36329176-chr11:36500046..36500933,5	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10501151	1.00[YRI][hapmap]
rs10501152	1.00[YRI][hapmap]
rs12294763	0.83[CEU][hapmap]
rs2422187	0.86[JPT][hapmap]
rs61878688	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878689	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61878692	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67184556	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72948150	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11606433	DEPDC7	cis	parietal	SCAN
rs11606433	RAG1	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36311400-36331400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:36319200-36331800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:36322800-36331400	Weak transcription	Gastric	stomach
4	chr11:36323000-36331400	Weak transcription	Lung	lung
5	chr11:36323000-36331400	Weak transcription	Pancreas	Pancrea
6	chr11:36323000-36331400	Weak transcription	Spleen	Spleen
7	chr11:36323000-36333800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:36323000-36334000	Weak transcription	Ovary	ovary
9	chr11:36323000-36334200	Weak transcription	Brain Anterior Caudate	brain
10	chr11:36323000-36335200	Weak transcription	Colonic Mucosa	Colon
11	chr11:36323800-36331400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:36324000-36333800	Weak transcription	Brain Angular Gyrus	brain
13	chr11:36326000-36331200	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:36326400-36328800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:36326400-36331600	Weak transcription	HSMMtube	muscle
16	chr11:36326400-36333800	Weak transcription	Fetal Intestine Small	intestine
17	chr11:36327200-36335200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:36328000-36329000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr11:36328200-36328800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr11:36328400-36330600	Enhancers	Brain Substantia Nigra	brain
21	chr11:36328600-36328800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:36328600-36330800	Enhancers	Adipose Nuclei	Adipose

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