Variant report

Variant	rs1493791
Chromosome Location	chr12:76246959-76246960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76216861..76218706-chr12:76245064..76247244,2	MCF-7	breast:
2	chr12:76242367..76248604-chr12:76422405..76426784,7	MCF-7	breast:
3	chr12:76244859..76247093-chr12:76267194..76270190,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257839	Chromatin interaction
ENSG00000257453	Chromatin interaction
ENSG00000139289	Chromatin interaction

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

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

rs_ID	r²[population]
rs10879992	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10879993	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11180710	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs11180712	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11180713	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11180714	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11180719	1.00[CEU][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12227868	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12229980	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12230172	1.00[CEU][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12426679	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs12426691	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs1463754	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1493792	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493794	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1493795	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1532293	0.82[CEU][hapmap]
rs1565765	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs34439598	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35080799	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
2	chr12:76240400-76247400	Weak transcription	Aorta	Aorta
3	chr12:76241600-76248800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:76241600-76251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:76242000-76247600	Enhancers	NHDF-Ad	bronchial
6	chr12:76242000-76249000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:76242200-76247800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:76243400-76253800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:76243800-76247400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:76244000-76249000	Enhancers	HMEC	breast
11	chr12:76244000-76249200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:76244600-76249200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:76244800-76247600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:76245000-76247000	Weak transcription	Left Ventricle	heart
15	chr12:76245000-76247000	Weak transcription	HSMMtube	muscle
16	chr12:76245000-76247200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:76245000-76247200	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:76245000-76247400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:76245000-76247400	Weak transcription	Ovary	ovary
20	chr12:76245000-76247400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:76245000-76247400	Weak transcription	HUVEC	blood vessel
22	chr12:76245000-76247600	Weak transcription	Esophagus	oesophagus
23	chr12:76245000-76248400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:76245000-76248800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:76245000-76252200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:76245200-76247000	Weak transcription	Fetal Kidney	kidney
27	chr12:76245200-76247000	Weak transcription	Fetal Lung	lung
28	chr12:76245200-76247400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:76245200-76247600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:76245200-76248400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:76245200-76256400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:76245800-76247800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:76245800-76247800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr12:76246000-76248400	Weak transcription	HSMM	muscle
35	chr12:76246000-76255400	Weak transcription	A549	lung
36	chr12:76246200-76248400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:76246400-76247800	Enhancers	Brain Germinal Matrix	brain
38	chr12:76246400-76249800	Enhancers	NHEK	skin
39	chr12:76246600-76247800	Weak transcription	NHLF	lung
40	chr12:76246600-76248400	Weak transcription	Osteobl	bone
41	chr12:76246600-76248600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:76246800-76247800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:76246800-76248400	Weak transcription	Muscle Satellite Cultured Cells	--

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