Variant report

Variant	rs11901288
Chromosome Location	chr2:178440255-178440256
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178431853..178433434-chr2:178438526..178441127,2	MCF-7	breast:
2	chr2:178415755..178417971-chr2:178438739..178440654,2	MCF-7	breast:
3	chr2:178432546..178435257-chr2:178437767..178440394,2	K562	blood:

Variant related genes	Relation type
ENSG00000196659	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11902352	1.00[ASN][1000 genomes]
rs16865189	1.00[AMR][1000 genomes]
rs16865202	1.00[AMR][1000 genomes]
rs16865214	1.00[AMR][1000 genomes]
rs16865224	1.00[AMR][1000 genomes]
rs16865278	1.00[AMR][1000 genomes]
rs16865286	1.00[AMR][1000 genomes]
rs16865294	1.00[AMR][1000 genomes]
rs16865305	1.00[AMR][1000 genomes]
rs16865306	1.00[AMR][1000 genomes]
rs16865322	1.00[AMR][1000 genomes]
rs16865324	1.00[AMR][1000 genomes]
rs16865337	1.00[AMR][1000 genomes]
rs16865338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16865342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16865343	1.00[AMR][1000 genomes]
rs16865351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16865357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16865359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16865365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16865376	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16865377	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16865379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16865385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16865440	1.00[AMR][1000 genomes]
rs16865451	1.00[AMR][1000 genomes]
rs16865455	1.00[AMR][1000 genomes]
rs16865473	1.00[AMR][1000 genomes]
rs16865527	1.00[AMR][1000 genomes]
rs16865533	1.00[AMR][1000 genomes]
rs16865748	1.00[AMR][1000 genomes]
rs1965180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59466016	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60102399	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6712695	1.00[ASN][1000 genomes]
rs6760470	1.00[ASN][1000 genomes]
rs7557924	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178438000-178449800	Weak transcription	Pancreas	Pancrea
2	chr2:178438200-178443600	Weak transcription	HepG2	liver
3	chr2:178439200-178440400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:178440200-178440400	Enhancers	Right Atrium	heart
5	chr2:178440200-178440800	Enhancers	Colon Smooth Muscle	Colon
6	chr2:178440200-178443200	Weak transcription	Fetal Heart	heart

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