Variant report

Variant	rs2413944
Chromosome Location	chr15:49736751-49736752
allele	C/T
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:15)

rs_ID	r²[population]
rs12591134	0.85[YRI][hapmap]
rs12914592	0.92[YRI][hapmap]
rs1583060	0.93[YRI][hapmap]
rs16962436	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1961692	0.86[AFR][1000 genomes]
rs2413943	1.00[ASW][hapmap];0.98[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2413945	0.85[YRI][hapmap];0.85[AFR][1000 genomes]
rs2899437	0.81[ASW][hapmap];0.80[YRI][hapmap]
rs4332689	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6493366	0.82[LWK][hapmap];0.90[MKK][hapmap]
rs6493367	0.82[LWK][hapmap];0.90[MKK][hapmap]
rs7162373	0.93[ASW][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7176697	0.82[YRI][hapmap]
rs7177959	0.84[LWK][hapmap]
rs8031680	0.81[ASW][hapmap];0.80[YRI][hapmap]

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	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv9263	chr15:49734435-49809465	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49716400-49737200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:49730400-49744600	Weak transcription	NHLF	lung
3	chr15:49732000-49750200	Weak transcription	HSMM	muscle
4	chr15:49732400-49736800	Weak transcription	Fetal Stomach	stomach
5	chr15:49732400-49738200	Weak transcription	NHDF-Ad	bronchial
6	chr15:49732800-49741000	Weak transcription	Fetal Heart	heart
7	chr15:49733200-49741800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:49736200-49737000	Enhancers	Ovary	ovary
9	chr15:49736200-49737600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:49736200-49737600	Enhancers	Colon Smooth Muscle	Colon
11	chr15:49736200-49737600	Enhancers	Rectal Smooth Muscle	rectum
12	chr15:49736200-49739600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:49736400-49736800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:49736400-49737000	Active TSS	Stomach Smooth Muscle	stomach
15	chr15:49736400-49740800	Weak transcription	Right Ventricle	heart
16	chr15:49736600-49737000	Enhancers	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
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