Variant report

Variant	rs16940372
Chromosome Location	chr15:58795513-58795514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58791633..58793802-chr15:58794935..58797234,3	K562	blood:
2	chr15:58790757..58793256-chr15:58794935..58797026,2	K562	blood:

Variant related genes	Relation type
ENSG00000259293	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12904012	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12905076	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16940388	0.92[AFR][1000 genomes]
rs17301781	1.00[MEX][hapmap]
rs1869142	0.86[CHB][hapmap]
rs1869143	1.00[CHB][hapmap];0.86[MEX][hapmap]
rs1979178	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs34522258	0.89[EUR][1000 genomes]
rs7163555	0.89[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.83[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1043041	chr15:58744505-58876327	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv904268	chr15:58763678-58803225	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58784000-58797800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:58784400-58795600	Weak transcription	Liver	Liver
3	chr15:58785000-58797200	Weak transcription	Right Ventricle	heart
4	chr15:58789600-58795600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr15:58791400-58797400	Weak transcription	Esophagus	oesophagus
6	chr15:58791400-58809400	Weak transcription	Spleen	Spleen
7	chr15:58791600-58797000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:58791600-58797600	Weak transcription	HMEC	breast
9	chr15:58792000-58797200	Weak transcription	Right Atrium	heart
10	chr15:58792000-58797400	Weak transcription	NHEK	skin
11	chr15:58792200-58795800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:58792200-58797200	Weak transcription	HSMM	muscle
13	chr15:58792400-58797400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:58792400-58797600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:58792600-58797800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:58792800-58797400	Weak transcription	NHDF-Ad	bronchial
17	chr15:58793400-58795800	Weak transcription	Fetal Thymus	thymus
18	chr15:58793400-58803400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:58794600-58795800	Weak transcription	Psoas Muscle	Psoas
20	chr15:58794600-58797400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:58794600-58798000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:58794600-58798000	Weak transcription	Placenta	Placenta
23	chr15:58794800-58795800	Enhancers	Duodenum Mucosa	Duodenum
24	chr15:58794800-58796000	Enhancers	Stomach Mucosa	stomach
25	chr15:58795000-58795600	Enhancers	Fetal Intestine Large	intestine
26	chr15:58795000-58796000	Weak transcription	Fetal Kidney	kidney
27	chr15:58795200-58795600	Weak transcription	HSMMtube	muscle
28	chr15:58795200-58797400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:58795400-58795600	Enhancers	Fetal Intestine Small	intestine
30	chr15:58795400-58796200	Enhancers	Thymus	Thymus

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