Variant report

Variant	rs7172615
Chromosome Location	chr15:50357743-50357744
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10519257	0.84[CEU][hapmap]
rs11070747	0.91[JPT][hapmap]
rs11857230	0.91[JPT][hapmap]
rs12050709	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12148444	0.95[JPT][hapmap]
rs12902530	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12903325	0.90[CEU][hapmap];0.94[CHB][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12905011	0.87[EUR][1000 genomes]
rs12909131	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs28369108	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34970637	0.85[EUR][1000 genomes]
rs35829912	0.81[AFR][1000 genomes]
rs36102158	0.82[EUR][1000 genomes]
rs41362650	0.89[CEU][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4143837	0.81[JPT][hapmap]
rs4775851	0.91[JPT][hapmap]
rs6493402	0.91[JPT][hapmap]
rs7177318	0.95[JPT][hapmap]
rs8040030	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv569395	chr15:50345393-50437494	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50348200-50359800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:50348600-50358600	Weak transcription	Fetal Intestine Large	intestine
3	chr15:50351000-50358400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr15:50352000-50358400	Weak transcription	Fetal Intestine Small	intestine
5	chr15:50352000-50358600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr15:50352000-50358600	Weak transcription	Small Intestine	intestine
7	chr15:50352400-50359400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:50353200-50357800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:50354600-50360400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr15:50356000-50360600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr15:50356400-50358000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:50356400-50359200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:50356600-50362000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:50357000-50359000	Enhancers	Colon Smooth Muscle	Colon
15	chr15:50357200-50357800	Enhancers	Primary hematopoietic stem cells	blood
16	chr15:50357200-50358600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr15:50357600-50357800	Enhancers	Primary B cells from cord blood	blood
18	chr15:50357600-50357800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr15:50357600-50360600	Enhancers	Monocytes-CD14+_RO01746	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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