Variant report

Variant	rs12586327
Chromosome Location	chr14:25422488-25422489
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:25422370..25423189-chr14:25504381..25505293,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10483291	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11159000	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11159001	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12586425	1.00[CEU][hapmap]
rs12587035	0.82[ASN][1000 genomes]
rs17109360	0.85[GIH][hapmap]
rs17185425	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1951800	0.85[CEU][hapmap]
rs2332459	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2877686	0.85[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs4561376	0.89[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap]
rs7141066	0.85[CEU][hapmap];0.85[GIH][hapmap]
rs7155229	1.00[CEU][hapmap]
rs74040740	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8003472	0.85[CEU][hapmap]
rs912306	0.85[CEU][hapmap]
rs912307	0.85[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs9671261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901508	chr14:25365505-25451903	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1041051	chr14:25388230-25480511	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1047792	chr14:25388933-25503799	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv983765	chr14:25417522-25423084	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12586327	ABHD4	cis	parietal	SCAN
rs12586327	RNASE6	cis	parietal	SCAN
rs12586327	IDH2	trans	cerebellum	SCAN
rs12586327	OR4K17	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25412600-25423600	Weak transcription	Right Atrium	heart
2	chr14:25412600-25426600	Weak transcription	Fetal Intestine Small	intestine
3	chr14:25412600-25426800	Weak transcription	Fetal Intestine Large	intestine
4	chr14:25414200-25424400	Weak transcription	Pancreas	Pancrea
5	chr14:25421400-25423200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:25421600-25423800	Enhancers	Brain Cingulate Gyrus	brain
7	chr14:25421800-25423800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr14:25421800-25423800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:25421800-25424000	Enhancers	Brain Hippocampus Middle	brain
10	chr14:25422000-25422600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:25422000-25422800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:25422000-25424600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr14:25422000-25428400	Weak transcription	Small Intestine	intestine
14	chr14:25422200-25422600	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr14:25422200-25422600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:25422200-25422600	Enhancers	HepG2	liver
17	chr14:25422200-25422600	ZNF genes & repeats	HSMM	muscle
18	chr14:25422200-25422800	ZNF genes & repeats	Aorta	Aorta
19	chr14:25422200-25422800	ZNF genes & repeats	Lung	lung
20	chr14:25422200-25422800	Enhancers	NHDF-Ad	bronchial
21	chr14:25422200-25423400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr14:25422200-25423600	Enhancers	Brain Substantia Nigra	brain
23	chr14:25422200-25424000	Enhancers	Brain Angular Gyrus	brain
24	chr14:25422200-25424200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr14:25422200-25424400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr14:25422200-25426400	Enhancers	Left Ventricle	heart
27	chr14:25422200-25427200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:25422400-25422600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:25422400-25422600	Weak transcription	Fetal Lung	lung
30	chr14:25422400-25422600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr14:25422400-25422600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr14:25422400-25422600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
33	chr14:25422400-25422800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr14:25422400-25423400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr14:25422400-25423400	Enhancers	Adipose Nuclei	Adipose
36	chr14:25422400-25424000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr14:25422400-25425000	Enhancers	Right Ventricle	heart

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