Variant report

Variant	rs2113945
Chromosome Location	chr15:31324531-31324532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr15:31324272-31324670	K562	blood:	n/a	n/a

Variant related genes	Relation type
TRPM1	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10163148	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs10519726	0.83[CHB][hapmap];0.94[CHD][hapmap]
rs11070678	1.00[CHB][hapmap]
rs11070718	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs1133642	0.91[CHB][hapmap];0.83[CHD][hapmap]
rs11638295	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs12441318	0.85[CHB][hapmap]
rs12442333	0.82[CHB][hapmap]
rs12901022	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs1404468	0.92[CHB][hapmap]
rs1404469	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs1474381	1.00[CHB][hapmap]
rs1474382	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs1524876	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs16956341	0.83[CHB][hapmap]
rs16956362	0.83[CHB][hapmap];0.94[CHD][hapmap]
rs16956366	0.83[CHB][hapmap]
rs16956414	0.83[CHB][hapmap];0.93[CHD][hapmap]
rs16956422	0.83[CHB][hapmap];0.94[CHD][hapmap]
rs17815804	0.94[CHD][hapmap]
rs1880499	0.92[CHB][hapmap]
rs2042613	0.90[CEU][hapmap];0.92[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2113946	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs2162070	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2272218	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs2272219	1.00[CHB][hapmap]
rs2293319	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs2293320	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs28583849	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28693590	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs2873	0.92[CHB][hapmap]
rs2949569	0.92[CHB][hapmap]
rs2949570	0.92[CHB][hapmap]
rs2949573	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs2949575	1.00[CHB][hapmap]
rs2949576	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs2949577	0.92[CHB][hapmap]
rs2949578	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs2955783	0.92[CHB][hapmap]
rs2955787	1.00[CHB][hapmap]
rs2955790	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs2955791	1.00[CHB][hapmap]
rs2955796	0.85[CHB][hapmap]
rs2959039	0.85[CHB][hapmap]
rs2959049	1.00[CHB][hapmap]
rs3743231	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs3784588	0.83[CHB][hapmap];0.94[CHD][hapmap]
rs4779796	1.00[CHB][hapmap]
rs4779797	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs6493358	0.83[CHB][hapmap]
rs7161812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7164939	0.83[CHB][hapmap]
rs7165798	0.90[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7169064	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs7170710	0.92[CHB][hapmap]
rs7175951	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs7176351	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs7178375	1.00[CHB][hapmap]
rs7178533	1.00[CHB][hapmap]
rs7182143	0.90[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8040989	0.92[CHB][hapmap]
rs8041717	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs871312	0.83[CHB][hapmap];0.94[CHD][hapmap]
rs872843	0.83[CHB][hapmap]
rs964925	0.83[CHD][hapmap]
rs9806159	1.00[CHB][hapmap];0.88[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv916936	chr15:30921917-31337510	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv525795	chr15:30936285-31324531	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
4	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	esv33507	chr15:31183324-31471023	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv832952	chr15:31204426-31333998	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv1052722	chr15:31261834-31609680	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv542315	chr15:31261834-31609680	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv903835	chr15:31312743-31384797	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31316400-31324800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr15:31316800-31330000	Weak transcription	Pancreas	Pancrea
3	chr15:31317400-31326600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:31317400-31328400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:31317400-31334200	Weak transcription	Gastric	stomach
6	chr15:31317600-31325200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:31317800-31324600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:31318000-31325600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:31322800-31325600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:31323200-31326800	Enhancers	HUVEC	blood vessel
11	chr15:31323200-31326800	Enhancers	NHDF-Ad	bronchial
12	chr15:31323400-31325400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:31323800-31325000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:31323800-31326200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:31323800-31326400	Enhancers	NHLF	lung
16	chr15:31324000-31324800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:31324000-31324800	Weak transcription	Placenta	Placenta
18	chr15:31324000-31324800	Weak transcription	NH-A	brain
19	chr15:31324000-31324800	Weak transcription	Osteobl	bone
20	chr15:31324200-31325200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:31324200-31325200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:31324200-31325600	Weak transcription	Spleen	Spleen
23	chr15:31324200-31325800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr15:31324400-31324800	Weak transcription	NHEK	skin
25	chr15:31324400-31326400	Enhancers	Fetal Kidney	kidney

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