Variant report

Variant	rs12409671
Chromosome Location	chr1:56768449-56768450
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	chr1:56764262..56765836-chr1:56767748..56769368,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11206775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12026512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12031412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12062012	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12070360	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17113634	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs952133	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006422	chr1:56734772-56828606	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv534972	chr1:56734772-56828606	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56757800-56786000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:56758600-56770400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:56763800-56770400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:56764000-56773400	Weak transcription	Psoas Muscle	Psoas
5	chr1:56765200-56795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:56765600-56769200	Weak transcription	Ovary	ovary
7	chr1:56765800-56775000	Weak transcription	HepG2	liver
8	chr1:56766600-56769000	Enhancers	HUVEC	blood vessel
9	chr1:56766600-56770000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:56767000-56769800	Enhancers	NHDF-Ad	bronchial
11	chr1:56767200-56768600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:56767200-56769000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:56767200-56769200	Enhancers	Osteobl	bone
14	chr1:56767600-56768600	Enhancers	NH-A	brain
15	chr1:56767600-56769000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:56767600-56769400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:56767800-56768800	Enhancers	NHLF	lung
18	chr1:56767800-56769000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:56767800-56769000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:56767800-56769000	Enhancers	Fetal Intestine Large	intestine
21	chr1:56767800-56769000	Enhancers	Fetal Intestine Small	intestine
22	chr1:56767800-56769600	Enhancers	Right Atrium	heart
23	chr1:56767800-56770000	Enhancers	Placenta	Placenta
24	chr1:56768000-56770000	Enhancers	Left Ventricle	heart
25	chr1:56768000-56770400	Enhancers	Right Ventricle	heart
26	chr1:56768200-56772000	Enhancers	Fetal Heart	heart
27	chr1:56768200-56791000	Weak transcription	Aorta	Aorta
28	chr1:56768400-56768600	Enhancers	HSMMtube	muscle

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