Variant report

Variant	rs10785269
Chromosome Location	chr12:41857421-41857422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10506188	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10506193	0.83[CEU][hapmap]
rs10748302	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10880081	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10880082	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10880086	0.82[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10880087	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10880088	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10880089	0.88[CEU][hapmap]
rs10880091	0.83[CEU][hapmap]
rs10880093	0.83[CEU][hapmap]
rs10880096	0.88[CEU][hapmap]
rs10880097	0.83[CEU][hapmap]
rs11180936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11180943	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180961	0.82[CEU][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180979	0.82[CEU][hapmap]
rs11180981	0.82[CEU][hapmap]
rs11180984	0.88[CEU][hapmap]
rs11180989	0.82[CEU][hapmap]
rs12229610	0.83[CEU][hapmap]
rs12230775	0.83[CEU][hapmap]
rs12372586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1458153	0.82[CEU][hapmap]
rs1551594	0.80[EUR][1000 genomes]
rs169564	0.85[JPT][hapmap]
rs17579291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1902908	0.83[CEU][hapmap]
rs2054211	0.88[CEU][hapmap]
rs2608709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730812	1.00[JPT][hapmap]
rs2730831	0.85[JPT][hapmap]
rs2733294	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs285551	0.85[JPT][hapmap]
rs285559	1.00[JPT][hapmap]
rs285586	0.82[CEU][hapmap]
rs285587	0.83[CEU][hapmap]
rs285588	1.00[JPT][hapmap]
rs285596	1.00[JPT][hapmap]
rs285597	0.85[JPT][hapmap]
rs287087	1.00[JPT][hapmap]
rs3110189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768355	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs725527	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3501985	chr12:41847710-41863530	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
3	esv3501996	chr12:41847724-41863526	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
4	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41829600-41860600	Weak transcription	Aorta	Aorta
2	chr12:41848600-41860800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:41852800-41857800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:41853400-41857600	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:41853400-41860200	Weak transcription	Brain Germinal Matrix	brain
6	chr12:41853800-41859200	Weak transcription	Fetal Lung	lung
7	chr12:41855000-41859400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:41855000-41860600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:41855000-41861000	Weak transcription	Brain Anterior Caudate	brain
10	chr12:41855200-41859400	Weak transcription	Brain Substantia Nigra	brain
11	chr12:41855400-41858800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:41855400-41860600	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:41856400-41859000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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