Variant report

Variant	rs12733235
Chromosome Location	chr1:197768282-197768283
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197742811..197746253-chr1:197766059..197770491,4	K562	blood:

Variant related genes	Relation type
ENSG00000213047	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12746503	1.00[ASN][1000 genomes]
rs12749423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12751508	1.00[ASN][1000 genomes]
rs34780947	1.00[ASN][1000 genomes]
rs36077246	1.00[ASN][1000 genomes]
rs71633809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv947369	chr1:197750549-197778118	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197757200-197769600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:197767400-197769000	Enhancers	Fetal Heart	heart
3	chr1:197767600-197768600	Enhancers	Brain Germinal Matrix	brain
4	chr1:197767600-197769000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:197767600-197769200	Enhancers	NHDF-Ad	bronchial
6	chr1:197767600-197771400	ZNF genes & repeats	Dnd41	blood
7	chr1:197767800-197768400	Enhancers	Left Ventricle	heart
8	chr1:197767800-197768400	Enhancers	Right Ventricle	heart
9	chr1:197767800-197769000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:197767800-197769000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:197767800-197769000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:197767800-197769000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:197767800-197769000	Enhancers	NHLF	lung
14	chr1:197767800-197769200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:197767800-197769200	Enhancers	Osteobl	bone
16	chr1:197767800-197769800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:197768000-197768800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:197768000-197769000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:197768000-197769000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:197768000-197769000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:197768000-197769000	Enhancers	HMEC	breast
22	chr1:197768000-197769000	Enhancers	NHEK	skin
23	chr1:197768200-197768400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:197768200-197768400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:197768200-197768800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:197768200-197769000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:197768200-197769000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:197768200-197769000	Enhancers	NH-A	brain
29	chr1:197768200-197769200	Enhancers	Hela-S3	cervix

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