Variant report

Variant	rs12593242
Chromosome Location	chr15:50302876-50302877
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12437905	0.81[CHB][hapmap]
rs12591096	0.93[ASN][1000 genomes]
rs16963207	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs16963226	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs16963251	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs2414003	0.90[CHB][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs2899446	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs4522364	0.82[ASN][1000 genomes]
rs56400949	0.93[ASN][1000 genomes]
rs7168249	0.84[ASN][1000 genomes]
rs8033655	0.95[JPT][hapmap]
rs935196	0.84[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv904207	chr15:50290295-50352945	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1530	chr15:50302524-50347616	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50296200-50303600	Weak transcription	Spleen	Spleen
2	chr15:50296200-50314200	Strong transcription	Primary hematopoietic stem cells	blood
3	chr15:50296400-50309200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr15:50296400-50311200	Weak transcription	Placenta	Placenta
5	chr15:50296400-50314600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr15:50296600-50304200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr15:50296800-50335200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:50297400-50334600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:50298800-50306400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:50298800-50306800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr15:50299400-50308800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:50302200-50303200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr15:50302200-50314000	Weak transcription	Liver	Liver
14	chr15:50302800-50303200	Enhancers	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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