Variant report

Variant	rs12472489
Chromosome Location	chr2:37752784-37752785
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37750494..37753126-chr2:37755282..37758180,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10084269	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10165975	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10177794	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10177859	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10180573	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184286	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11124588	0.91[ASN][1000 genomes]
rs12151799	0.90[ASN][1000 genomes]
rs13407307	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274577	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4352210	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4387769	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4430920	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4461243	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4538180	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670726	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4670727	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62135619	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62135620	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62135623	0.85[ASN][1000 genomes]
rs6544089	0.93[ASN][1000 genomes]
rs6544090	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6705305	0.90[ASN][1000 genomes]
rs6715817	0.81[ASN][1000 genomes]
rs6759677	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7419452	0.84[ASN][1000 genomes]
rs7589042	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7593076	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309009	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309010	0.88[AMR][1000 genomes];0.94[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	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37749200-37752800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:37750000-37752800	Enhancers	Fetal Heart	heart
3	chr2:37750200-37752800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:37750400-37752800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:37750400-37752800	Enhancers	Fetal Stomach	stomach
6	chr2:37751200-37752800	Enhancers	Psoas Muscle	Psoas
7	chr2:37751400-37753600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:37751600-37758600	Weak transcription	HMEC	breast
9	chr2:37751600-37763000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:37751800-37755600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:37751800-37757000	Weak transcription	NHLF	lung
12	chr2:37751800-37757200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:37752000-37753800	Weak transcription	Right Atrium	heart
14	chr2:37752400-37752800	Enhancers	Stomach Smooth Muscle	stomach
15	chr2:37752400-37757200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:37752600-37752800	Enhancers	Rectal Smooth Muscle	rectum
17	chr2:37752600-37754000	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:37752600-37754200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:37752600-37754400	Weak transcription	Primary B cells from cord blood	blood
20	chr2:37752600-37754400	Weak transcription	Left Ventricle	heart
21	chr2:37752600-37756600	Weak transcription	NHDF-Ad	bronchial
22	chr2:37752600-37757000	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:37752600-37757200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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