Variant report

Variant	rs2008336
Chromosome Location	chr15:56007004-56007005
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	chr15:56006581..56008616-chr15:56009366..56011272,2	MCF-7	breast:
2	chr15:56002955..56005054-chr15:56005105..56008036,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10518817	0.86[CHB][hapmap]
rs10851589	0.86[CHB][hapmap]
rs10851591	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11630141	0.97[ASN][1000 genomes]
rs11854213	0.85[CHB][hapmap]
rs11857453	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11857467	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11858195	0.90[CEU][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12373006	0.90[CHB][hapmap]
rs12438177	0.81[CHB][hapmap]
rs12442771	0.95[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs12591246	0.86[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs12592192	0.82[ASN][1000 genomes]
rs12903822	0.81[CHB][hapmap]
rs16976450	0.81[CHB][hapmap]
rs16976472	0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs1814329	0.95[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2118781	0.85[CHB][hapmap]
rs2414424	0.91[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs2414426	0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2414427	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2414430	0.86[ASN][1000 genomes]
rs2414431	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs28485308	0.91[ASN][1000 genomes]
rs28575567	0.91[ASN][1000 genomes]
rs4377101	0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs4774802	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs4774803	0.91[CEU][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57782071	0.80[ASN][1000 genomes]
rs62043872	0.83[ASN][1000 genomes]
rs6493809	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs6493814	0.95[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs71110312	0.89[ASN][1000 genomes]
rs715321	0.90[ASN][1000 genomes]
rs7161967	0.92[ASN][1000 genomes]
rs7162371	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7162879	0.82[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs7163167	0.85[CHB][hapmap]
rs7171318	0.86[CHB][hapmap]
rs7178379	0.86[CHB][hapmap]
rs7180112	0.81[ASN][1000 genomes]
rs7181212	0.90[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs7182733	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs7359255	0.95[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs8023911	0.91[ASN][1000 genomes]
rs8025445	0.85[CHB][hapmap]
rs8034414	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8037136	0.91[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs8042029	0.92[ASN][1000 genomes]
rs9672390	0.88[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9920246	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv948522	chr15:55639867-56032099	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1049774	chr15:55759573-56044600	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv833017	chr15:55965957-56157912	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv3366380	chr15:56003224-56141650	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr15:55996200-56015000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr15:55996400-56007600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:55999800-56028000	Weak transcription	Fetal Kidney	kidney
4	chr15:56001000-56007600	Weak transcription	Hela-S3	cervix
5	chr15:56001200-56007600	Weak transcription	HepG2	liver
6	chr15:56002200-56007400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr15:56002200-56014600	Weak transcription	A549	lung
8	chr15:56003400-56011400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:56003800-56008000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr15:56004000-56007800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:56004000-56008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:56004000-56012800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:56004400-56011000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:56005800-56009800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr15:56006600-56007800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:56006800-56008000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr15:56007000-56008000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:56007000-56009200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr15:56007000-56009600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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