Variant report

Variant	rs12910217
Chromosome Location	chr15:50301649-50301650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12908130	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12916581	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17415291	0.81[GIH][hapmap]
rs17495375	0.80[GIH][hapmap]
rs17496768	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17497829	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35392725	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71469670	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7166848	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7182705	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]

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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50296000-50302000	Weak transcription	Fetal Intestine Small	intestine
2	chr15:50296200-50303600	Weak transcription	Spleen	Spleen
3	chr15:50296200-50314200	Strong transcription	Primary hematopoietic stem cells	blood
4	chr15:50296400-50309200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr15:50296400-50311200	Weak transcription	Placenta	Placenta
6	chr15:50296400-50314600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr15:50296600-50302200	Weak transcription	Hela-S3	cervix
8	chr15:50296600-50304200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:50296800-50335200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:50297400-50334600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:50298800-50306400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:50298800-50306800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr15:50299400-50308800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:50300400-50302000	Weak transcription	Fetal Heart	heart
15	chr15:50301400-50302000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:50301600-50302200	Enhancers	Liver	Liver
17	chr15:50301600-50302200	Enhancers	Duodenum Mucosa	Duodenum
18	chr15:50301600-50302200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr15:50301600-50302200	Enhancers	Rectal Smooth Muscle	rectum

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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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