Variant report

Variant	rs57018658
Chromosome Location	chr15:50529325-50529326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:50529157..50531551-chr15:50532613..50535135,3	K562	blood:
2	chr15:50524113..50527183-chr15:50529127..50532910,3	MCF-7	breast:
3	chr15:50528925..50531452-chr15:50560878..50563779,2	K562	blood:
4	chr15:50525596..50527399-chr15:50528974..50531959,3	MCF-7	breast:
5	chr15:50473724..50475548-chr15:50527020..50529771,2	K562	blood:
6	chr15:50519543..50521408-chr15:50526964..50529352,2	K562	blood:
7	chr15:50528875..50531228-chr15:50534308..50536553,2	MCF-7	breast:
8	chr15:50527759..50530671-chr15:50537665..50540543,4	MCF-7	breast:
9	chr15:50492672..50495019-chr15:50529242..50532008,2	K562	blood:
10	chr15:50511537..50513424-chr15:50527052..50529360,2	MCF-7	breast:
11	chr15:50459279..50461816-chr15:50527113..50529543,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000140284	Chromatin interaction
ENSG00000104043	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10519264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12909764	0.91[ASN][1000 genomes]
rs1529341	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529342	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1549521	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16963414	0.93[ASN][1000 genomes]
rs16963459	0.98[ASN][1000 genomes]
rs16963474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16963477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16963481	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs16963485	0.90[ASN][1000 genomes]
rs16963493	0.90[ASN][1000 genomes]
rs16963496	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs16963517	1.00[EUR][1000 genomes]
rs17848325	1.00[ASN][1000 genomes]
rs2073440	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2081629	1.00[EUR][1000 genomes]
rs2238294	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28392818	1.00[EUR][1000 genomes]
rs28758988	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34406040	1.00[EUR][1000 genomes]
rs56405312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57796210	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58090772	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58421641	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58548530	1.00[ASN][1000 genomes]
rs60425623	1.00[ASN][1000 genomes]
rs61699680	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7163360	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7163895	0.90[ASN][1000 genomes]
rs7164386	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7166052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7166426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7166844	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7166950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7167126	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7167784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7168181	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7183971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73397258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73397259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73397262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73397266	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73397268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73397273	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73397279	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73397282	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73399203	0.82[ASN][1000 genomes]
rs8028354	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50503600-50539800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr15:50508000-50539800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:50512800-50530000	Weak transcription	Colonic Mucosa	Colon
4	chr15:50514000-50531600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:50514400-50530200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:50515800-50537200	Weak transcription	Gastric	stomach
7	chr15:50518600-50530200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:50520200-50537200	Weak transcription	Pancreas	Pancrea
9	chr15:50521200-50531400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr15:50523000-50531400	Weak transcription	Fetal Intestine Large	intestine
11	chr15:50525200-50529400	Genic enhancers	Liver	Liver
12	chr15:50525600-50530200	Weak transcription	HepG2	liver
13	chr15:50525800-50538600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:50526800-50530400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr15:50527600-50538800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr15:50528400-50530800	Strong transcription	Hela-S3	cervix
17	chr15:50528800-50533400	Weak transcription	K562	blood
18	chr15:50529000-50529400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:50529000-50532400	Weak transcription	Fetal Intestine Small	intestine

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