Variant report

Variant	rs736342
Chromosome Location	chr11:62743055-62743056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62673215..62674091-chr11:62742375..62743219,4	MCF-7	breast:
2	chr11:62689350..62691108-chr11:62741529..62743769,2	K562	blood:
3	chr11:62676494..62677257-chr11:62742352..62743262,5	MCF-7	breast:
4	chr11:62673591..62674411-chr11:62742288..62743290,3	K562	blood:
5	chr11:62742338..62743092-chr11:62791529..62792197,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257002	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11568621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11568628	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11568629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077137	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56052738	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56057734	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56192530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56238281	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56306952	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56406487	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57350702	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58244957	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67381592	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67406655	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931384	1.00[ASN][1000 genomes]
rs72931390	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72933422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72933451	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72933455	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs947790	1.00[AMR][1000 genomes];1.00[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	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
2	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	263 gene(s)	inside rSNPs	diseases
3	esv34011	chr11:62652779-62993702	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs736342	BSCL2	cis	lymphoblastoid	seeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62742000-62743200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr11:62742000-62743200	Enhancers	Psoas Muscle	Psoas
3	chr11:62742000-62743400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr11:62742000-62743600	Enhancers	Fetal Heart	heart
5	chr11:62742200-62743200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:62742200-62743200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:62742200-62743200	Enhancers	Fetal Intestine Small	intestine
8	chr11:62742200-62743200	Enhancers	Left Ventricle	heart
9	chr11:62742200-62743200	Enhancers	Lung	lung
10	chr11:62742200-62743200	Enhancers	Pancreas	Pancrea
11	chr11:62742200-62743200	Enhancers	Right Atrium	heart
12	chr11:62742200-62743400	Enhancers	Duodenum Mucosa	Duodenum
13	chr11:62742200-62743600	Enhancers	Fetal Muscle Leg	muscle
14	chr11:62742400-62743200	Enhancers	Brain Angular Gyrus	brain
15	chr11:62742400-62743400	Enhancers	Brain Germinal Matrix	brain
16	chr11:62742400-62743600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr11:62742800-62744400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:62742800-62744600	Weak transcription	Spleen	Spleen

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