Variant report

Variant	rs35630793
Chromosome Location	chr12:76247352-76247353
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	chr12:76242367..76248604-chr12:76422405..76426784,7	MCF-7	breast:

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11180691	0.83[ASN][1000 genomes]
rs11180694	0.83[ASN][1000 genomes]
rs11180698	0.89[ASN][1000 genomes]
rs11180700	0.89[ASN][1000 genomes]
rs11180715	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11180717	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11180718	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12809551	0.93[ASN][1000 genomes]
rs12810244	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12819031	0.97[ASN][1000 genomes]
rs12822358	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34175277	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34198570	0.80[ASN][1000 genomes]
rs34666369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71460148	0.93[ASN][1000 genomes]
rs71460151	0.99[AFR][1000 genomes];1.00[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:45 , 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	chr12:76245000-76247400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:76245000-76247400	Weak transcription	Ovary	ovary
16	chr12:76245000-76247400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:76245000-76247400	Weak transcription	HUVEC	blood vessel
18	chr12:76245000-76247600	Weak transcription	Esophagus	oesophagus
19	chr12:76245000-76248400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:76245000-76248800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:76245000-76252200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:76245200-76247400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:76245200-76247600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:76245200-76248400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:76245200-76256400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:76245800-76247800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:76245800-76247800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:76246000-76248400	Weak transcription	HSMM	muscle
29	chr12:76246000-76255400	Weak transcription	A549	lung
30	chr12:76246200-76248400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:76246400-76247800	Enhancers	Brain Germinal Matrix	brain
32	chr12:76246400-76249800	Enhancers	NHEK	skin
33	chr12:76246600-76247800	Weak transcription	NHLF	lung
34	chr12:76246600-76248400	Weak transcription	Osteobl	bone
35	chr12:76246600-76248600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:76246800-76247800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:76246800-76248400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:76247000-76248000	Enhancers	Fetal Lung	lung
39	chr12:76247000-76248800	Enhancers	Fetal Kidney	kidney
40	chr12:76247000-76248800	Enhancers	HSMMtube	muscle
41	chr12:76247200-76247800	Enhancers	Primary hematopoietic stem cells	blood
42	chr12:76247200-76247800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:76247200-76247800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr12:76247200-76248000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:76247200-76249200	Enhancers	Fetal Muscle Leg	muscle

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