Variant report

Variant	rs2724945
Chromosome Location	chr15:42325517-42325518
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	chr15:42318244..42322022-chr15:42323761..42326594,4	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11629515	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs11633848	0.91[EUR][1000 genomes]
rs11634009	0.91[EUR][1000 genomes]
rs11638234	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12901016	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12904287	0.81[ASN][1000 genomes]
rs12914009	0.86[ASN][1000 genomes]
rs1622221	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1622949	0.87[CEU][hapmap]
rs1668555	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1668556	0.80[ASN][1000 genomes]
rs1668557	1.00[JPT][hapmap]
rs1668560	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1668561	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1668562	0.88[CEU][hapmap]
rs1668567	0.80[ASN][1000 genomes]
rs1668581	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1668582	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1668583	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1668584	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1704353	0.80[ASN][1000 genomes]
rs1704359	0.80[ASN][1000 genomes]
rs1704362	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1704366	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1704367	0.80[ASN][1000 genomes]
rs1704370	0.88[CEU][hapmap]
rs1704373	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1704376	0.94[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1823552	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2598465	0.90[ASN][1000 genomes]
rs2598466	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2598467	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2665200	0.80[ASN][1000 genomes]
rs2665202	0.90[ASN][1000 genomes]
rs2665203	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2665205	0.82[EUR][1000 genomes]
rs2665207	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2665210	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2665211	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2724935	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2724937	0.92[ASN][1000 genomes]
rs2724939	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2724940	0.92[ASN][1000 genomes]
rs2724941	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2724942	0.82[EUR][1000 genomes]
rs2724944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34595238	0.80[ASN][1000 genomes]
rs35670495	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55638864	0.88[EUR][1000 genomes]
rs56171410	0.88[EUR][1000 genomes]
rs62004270	0.80[ASN][1000 genomes]
rs7166079	0.81[ASN][1000 genomes]
rs7181618	0.86[ASN][1000 genomes]
rs937992	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs937993	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats 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	73 gene(s)	inside rSNPs	diseases
6	nsv569235	chr15:42304628-42326259	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv904130	chr15:42323591-42336018	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42320400-42327200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:42322000-42327200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:42324000-42326200	Enhancers	Psoas Muscle	Psoas
4	chr15:42324200-42326600	Weak transcription	NHEK	skin
5	chr15:42324200-42327800	Enhancers	Esophagus	oesophagus
6	chr15:42324600-42325600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:42324600-42325800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr15:42325000-42325800	Weak transcription	HMEC	breast
9	chr15:42325200-42325600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr15:42325200-42325800	Weak transcription	Lung	lung
11	chr15:42325200-42326000	Enhancers	Colonic Mucosa	Colon
12	chr15:42325200-42326200	Weak transcription	HepG2	liver
13	chr15:42325200-42327200	Weak transcription	Placenta	Placenta
14	chr15:42325400-42326200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr15:42325400-42326600	Enhancers	GM12878-XiMat	blood
16	chr15:42325400-42327200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr15:42325400-42328400	Weak transcription	Right Ventricle	heart
18	chr15:42325400-42328800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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