Variant report

Variant	rs12595169
Chromosome Location	chr15:57797495-57797496
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57696048..57697809-chr15:57796426..57799407,2	MCF-7	breast:
2	chr15:57782161..57783961-chr15:57796230..57798996,2	K562	blood:
3	chr15:57790627..57792700-chr15:57796168..57798230,2	MCF-7	breast:
4	chr15:57797159..57800107-chr15:57801647..57804598,2	K562	blood:

Variant related genes	Relation type
ENSG00000252984	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10220805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10518923	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes]
rs10775165	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10851614	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10851615	0.93[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10851616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10851617	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11071323	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11071324	1.00[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11071325	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11071326	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11630712	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11630713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11630740	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11631943	0.86[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11634739	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11635065	0.86[ASN][1000 genomes]
rs11637220	0.86[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11637265	0.93[EUR][1000 genomes]
rs12323972	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12437888	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12438901	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12439099	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12439126	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12440928	0.86[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12441608	0.85[EUR][1000 genomes]
rs12442969	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12592077	0.92[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12593650	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12593685	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12593721	0.93[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12594455	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12594504	0.86[CEU][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12595135	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1280387	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs1666567	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16977531	0.86[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16977534	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16977558	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16977560	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16977561	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16977567	0.82[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1980048	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1994888	0.93[CEU][hapmap];0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1994889	0.93[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2087981	0.94[EUR][1000 genomes]
rs2131740	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2172613	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2172614	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2414510	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2942043	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs4545749	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58161678	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58253526	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7164486	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7167112	0.85[CEU][hapmap];0.81[ASN][1000 genomes]
rs7496403	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs932028	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs932029	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs955206	0.93[CEU][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs966693	0.84[EUR][1000 genomes]
rs9806311	0.86[CEU][hapmap];0.82[CHB][hapmap];0.88[AMR][1000 genomes];0.82[EUR][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	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv833022	chr15:57657412-57830112	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1045620	chr15:57680733-57804237	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2763103	chr15:57781577-57799765	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv904255	chr15:57790436-57907574	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57778200-57798400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr15:57779000-57797600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:57779000-57798200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr15:57779400-57800800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr15:57787200-57802000	Weak transcription	Aorta	Aorta
6	chr15:57788200-57797600	Enhancers	Fetal Heart	heart
7	chr15:57789800-57801600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:57790000-57797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:57790000-57808600	Weak transcription	Fetal Brain Male	brain
10	chr15:57790200-57797600	Weak transcription	Brain Anterior Caudate	brain
11	chr15:57790200-57799000	Enhancers	HepG2	liver
12	chr15:57790200-57801400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:57792000-57799000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr15:57792000-57799000	Enhancers	Pancreas	Pancrea
15	chr15:57792200-57799000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:57793000-57799400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:57793200-57799400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:57793200-57800200	Enhancers	Stomach Mucosa	stomach
19	chr15:57793400-57798000	Enhancers	Esophagus	oesophagus
20	chr15:57793400-57803200	Enhancers	Placenta	Placenta
21	chr15:57793600-57801000	Weak transcription	HSMMtube	muscle
22	chr15:57793600-57803200	Enhancers	Fetal Intestine Small	intestine
23	chr15:57793800-57802000	Enhancers	Fetal Intestine Large	intestine
24	chr15:57794200-57808800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:57794800-57797800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:57794800-57798200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:57795200-57800400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:57795200-57801600	Weak transcription	Small Intestine	intestine
29	chr15:57795400-57797600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr15:57795400-57800800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:57795600-57798000	Enhancers	Lung	lung
32	chr15:57795600-57798200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:57795600-57799000	Enhancers	NHDF-Ad	bronchial
34	chr15:57795600-57800200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:57795600-57801200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr15:57795800-57797600	Weak transcription	Right Atrium	heart
37	chr15:57795800-57798000	Weak transcription	NHLF	lung
38	chr15:57795800-57799000	Enhancers	Ovary	ovary
39	chr15:57795800-57800800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr15:57796000-57800200	Enhancers	Fetal Stomach	stomach
41	chr15:57796200-57797800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr15:57796200-57799400	Enhancers	HUVEC	blood vessel
43	chr15:57796200-57800400	Enhancers	Fetal Kidney	kidney
44	chr15:57796400-57798000	Enhancers	Brain Substantia Nigra	brain
45	chr15:57796400-57798600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:57796400-57799000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:57796400-57799600	Enhancers	Fetal Lung	lung
48	chr15:57796600-57800600	Weak transcription	Liver	Liver
49	chr15:57796800-57798000	Enhancers	NH-A	brain
50	chr15:57796800-57799000	Enhancers	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links