Variant report

Variant	rs12510514
Chromosome Location	chr4:142601496-142601497
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10519610	0.84[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs12498901	0.89[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12504148	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs13120181	0.80[ASN][1000 genomes]
rs13132563	0.80[ASN][1000 genomes]
rs1607595	0.84[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs17364630	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4519867	0.80[ASN][1000 genomes]
rs4956405	1.00[JPT][hapmap]
rs6812199	0.80[ASN][1000 genomes]
rs6814497	0.80[ASN][1000 genomes]
rs6827248	0.82[EUR][1000 genomes]
rs6830391	0.80[ASN][1000 genomes]
rs6837886	0.83[ASN][1000 genomes]
rs6842735	0.84[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs6850492	1.00[JPT][hapmap]
rs72712404	0.82[EUR][1000 genomes]
rs72712433	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730041	0.83[ASN][1000 genomes]
rs72730044	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7349640	0.84[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs7671458	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs7692755	0.80[ASN][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	nsv880173	chr4:142355535-142666106	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3401979	chr4:142434442-142803321	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1018949	chr4:142451823-142732365	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1030822	chr4:142487721-142706053	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142583400-142634600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:142597800-142607600	Weak transcription	Small Intestine	intestine
3	chr4:142598600-142601800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:142599200-142605000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:142599400-142602000	Enhancers	Hela-S3	cervix
6	chr4:142599800-142601600	Enhancers	Duodenum Mucosa	Duodenum
7	chr4:142600200-142602400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:142600400-142602000	Flanking Active TSS	A549	lung
9	chr4:142600400-142608200	Weak transcription	HSMM	muscle
10	chr4:142600600-142601800	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr4:142600600-142605800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:142600800-142601800	Enhancers	Stomach Mucosa	stomach
13	chr4:142600800-142602400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:142600800-142605600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:142600800-142605600	Weak transcription	NHDF-Ad	bronchial
16	chr4:142601000-142605400	Weak transcription	HUVEC	blood vessel
17	chr4:142601200-142601600	Active TSS	Aorta	Aorta
18	chr4:142601200-142601600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr4:142601200-142601800	Enhancers	Fetal Intestine Small	intestine
20	chr4:142601200-142602000	Enhancers	Psoas Muscle	Psoas
21	chr4:142601400-142602000	Enhancers	Skeletal Muscle Male	skeletal muscle

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