Variant report

Variant	rs1493795
Chromosome Location	chr12:76239977-76239978
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	chr12:76234777..76238439-chr12:76239479..76242748,4	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10879992	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10879993	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11180710	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs11180712	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180713	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180714	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12227868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12229980	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426679	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs12426691	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs1463754	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493791	1.00[CEU][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1493792	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1493794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532293	0.82[CEU][hapmap]
rs1565765	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs34439598	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35080799	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
2	chr12:76232200-76241400	Weak transcription	Fetal Stomach	stomach
3	chr12:76235600-76242600	Weak transcription	Left Ventricle	heart
4	chr12:76236000-76242000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:76236400-76242000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:76236800-76241200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:76236800-76241400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:76238000-76242000	Weak transcription	Fetal Brain Male	brain
9	chr12:76238200-76240400	Enhancers	Brain Germinal Matrix	brain
10	chr12:76238400-76241600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:76239200-76240000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:76239400-76240200	Weak transcription	Aorta	Aorta
13	chr12:76239400-76241600	Weak transcription	Ovary	ovary
14	chr12:76239400-76242000	Weak transcription	Brain Angular Gyrus	brain
15	chr12:76239400-76242000	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:76239600-76240000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:76239600-76244600	Weak transcription	HepG2	liver
18	chr12:76239800-76240400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:76239800-76240400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:76239800-76241400	Weak transcription	HUVEC	blood vessel
21	chr12:76239800-76242400	Weak transcription	Fetal Brain Female	brain

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