Variant report

Variant	rs471942
Chromosome Location	chr6:33696785-33696786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33421243..33423497-chr6:33695683..33697843,2	K562	blood:
2	chr6:33694998..33697623-chr6:33697893..33701266,3	K562	blood:
3	chr6:33695701..33698175-chr6:33702130..33704789,2	K562	blood:

Variant related genes	Relation type
ENSG00000213588	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11963294	1.00[CHB][hapmap]
rs12529825	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap]
rs210131	1.00[ASN][1000 genomes]
rs210153	1.00[ASN][1000 genomes]
rs4713634	1.00[ASN][1000 genomes]
rs630792	1.00[CHB][hapmap]
rs663169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
2	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
3	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs471942	BAK1	cis	lymphoblastoid	seeQTL
rs471942	ITPR3	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33680000-33698400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:33680000-33705000	Weak transcription	Brain Angular Gyrus	brain
3	chr6:33686200-33700200	Weak transcription	Liver	Liver
4	chr6:33686400-33710600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:33686600-33698600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:33688800-33698200	Weak transcription	Lung	lung
7	chr6:33688800-33700000	Strong transcription	HSMM	muscle
8	chr6:33689200-33696800	Strong transcription	HSMMtube	muscle
9	chr6:33690800-33708200	Weak transcription	Gastric	stomach
10	chr6:33691800-33711600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:33692000-33696800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:33692000-33697000	Weak transcription	Psoas Muscle	Psoas
13	chr6:33692000-33706800	Weak transcription	Fetal Intestine Small	intestine
14	chr6:33692000-33710200	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:33692600-33699200	Weak transcription	Fetal Lung	lung
16	chr6:33692800-33701000	Weak transcription	Fetal Brain Female	brain
17	chr6:33693000-33698600	Strong transcription	Brain Hippocampus Middle	brain
18	chr6:33693200-33697200	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr6:33693200-33698200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
20	chr6:33693200-33700800	Strong transcription	Fetal Muscle Leg	muscle
21	chr6:33693400-33701200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr6:33693600-33712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:33694000-33697600	Enhancers	Pancreas	Pancrea
24	chr6:33694000-33710600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:33694600-33699400	Enhancers	Right Ventricle	heart
26	chr6:33695000-33702400	Weak transcription	Brain Anterior Caudate	brain
27	chr6:33695200-33697400	Enhancers	Left Ventricle	heart
28	chr6:33695200-33700000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:33695400-33698200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr6:33695600-33697200	Strong transcription	Brain Substantia Nigra	brain
31	chr6:33695600-33711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:33695800-33696800	Enhancers	Right Atrium	heart
33	chr6:33695800-33697200	Enhancers	Spleen	Spleen
34	chr6:33696000-33698600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:33696200-33699200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:33696600-33698000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:33696600-33698000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
38	chr6:33696600-33700400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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