Variant report

Variant	rs4595585
Chromosome Location	chr12:39975702-39975703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39975317..39977272-chr12:39980536..39983177,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11171949	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap]
rs11171957	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs11172024	0.91[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11172035	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap]
rs11172105	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11172168	0.91[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11172175	0.81[ASN][1000 genomes]
rs11172204	0.81[ASN][1000 genomes]
rs11172263	0.89[ASN][1000 genomes]
rs11172347	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11172359	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11172373	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11172471	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11172474	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11172502	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11172566	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.83[MKK][hapmap];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11172603	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11172617	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11172644	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11172667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172675	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172676	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172702	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11543371	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12227092	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12227642	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap]
rs12228285	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12228664	0.89[ASN][1000 genomes]
rs17127119	0.84[CEU][hapmap];0.87[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap]
rs59380486	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61453715	0.81[ASN][1000 genomes]
rs7308295	0.87[CHB][hapmap];0.82[CHD][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs9788260	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
2	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1039645	chr12:39903123-40022029	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv522940	chr12:39946354-39998144	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv469359	chr12:39946354-40034699	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv558591	chr12:39946354-40034699	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv469361	chr12:39946354-40042220	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv558592	chr12:39946354-40042220	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv899014	chr12:39946354-40068896	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv899015	chr12:39946354-40118249	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv899016	chr12:39949147-40004906	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv899017	chr12:39949147-40081619	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
14	nsv899018	chr12:39949147-40111761	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
15	nsv899019	chr12:39955802-40004906	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39948800-40000000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:39953800-39978600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:39963400-39991600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:39963600-39978200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:39963800-40010200	Weak transcription	Left Ventricle	heart
6	chr12:39964400-39979000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:39966600-39993200	Weak transcription	GM12878-XiMat	blood
8	chr12:39966600-39993400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:39966800-40009400	Weak transcription	Primary T cells from cord blood	blood
10	chr12:39967400-39978400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:39967800-39993200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:39969400-39977400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:39969800-39977800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:39970200-39978800	Weak transcription	Fetal Brain Female	brain
15	chr12:39970400-39978200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:39970400-39981000	Weak transcription	Fetal Brain Male	brain
17	chr12:39972800-39977600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:39973000-39996000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:39974000-39979400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:39974800-39976400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:39974800-39976800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:39975000-39976200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:39975200-39975800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:39975200-39976200	Enhancers	A549	lung
25	chr12:39975400-39975800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:39975400-39976000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:39975400-39976000	Enhancers	NHEK	skin
28	chr12:39975400-39976200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:39975600-39975800	Enhancers	Hela-S3	cervix
30	chr12:39975600-39976000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:39975600-39976200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:39975600-39976200	Enhancers	Adipose Nuclei	Adipose
33	chr12:39975600-39976600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr12:39975600-39977400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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