Variant report

Variant	rs2598465
Chromosome Location	chr15:42313965-42313966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42313023..42314769-chr15:42339257..42341704,2	K562	blood:
2	chr15:42313009..42314884-chr15:42328123..42329860,2	K562	blood:
3	chr15:42305912..42307949-chr15:42313867..42316422,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11638234	0.85[ASN][1000 genomes]
rs12901016	0.83[ASN][1000 genomes]
rs1668555	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1668556	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1668557	1.00[JPT][hapmap]
rs1668560	1.00[ASN][1000 genomes]
rs1668561	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1668567	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1668580	0.87[ASN][1000 genomes]
rs1668581	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1668582	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1668583	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1668584	0.90[ASN][1000 genomes]
rs1704353	0.90[ASN][1000 genomes]
rs1704359	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1704362	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1704366	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1704367	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1704373	0.97[ASN][1000 genomes]
rs1704376	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1823552	0.90[ASN][1000 genomes]
rs2598466	0.90[ASN][1000 genomes]
rs2598467	0.90[ASN][1000 genomes]
rs2665200	0.90[ASN][1000 genomes]
rs2665202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2665203	0.97[ASN][1000 genomes]
rs2665207	0.90[ASN][1000 genomes]
rs2665210	0.90[ASN][1000 genomes]
rs2665211	0.90[ASN][1000 genomes]
rs2724935	1.00[ASN][1000 genomes]
rs2724937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2724939	0.97[ASN][1000 genomes]
rs2724940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2724941	0.83[ASN][1000 genomes]
rs2724944	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2724945	0.90[ASN][1000 genomes]
rs34595238	0.90[ASN][1000 genomes]
rs35670495	0.97[ASN][1000 genomes]
rs35671127	0.81[EUR][1000 genomes]
rs62004270	0.90[ASN][1000 genomes]
rs62004283	0.95[AMR][1000 genomes]
rs937992	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs937993	0.90[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	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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42311400-42314000	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr15:42312000-42316200	Weak transcription	Psoas Muscle	Psoas
3	chr15:42312800-42315200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr15:42313000-42314200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:42313000-42314400	Enhancers	NHEK	skin
6	chr15:42313000-42315000	Enhancers	Placenta	Placenta
7	chr15:42313200-42314000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:42313200-42314200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:42313200-42314600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr15:42313200-42317600	Weak transcription	Right Atrium	heart
11	chr15:42313600-42316600	Weak transcription	Esophagus	oesophagus

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