Variant report

Variant	rs12565246
Chromosome Location	chr1:214690503-214690504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214683964..214686596-chr1:214687813..214690608,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12073252	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128203	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12562411	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562873	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12563954	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28523586	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34952927	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4375231	0.81[AMR][1000 genomes]
rs4414018	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59286012	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6665807	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6665957	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6665967	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6680964	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6683647	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6685189	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6693492	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7533482	0.81[EUR][1000 genomes]

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
2	chr1:214669800-214700400	Weak transcription	Aorta	Aorta
3	chr1:214686800-214693000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:214686800-214694400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:214687600-214690600	Enhancers	Adipose Nuclei	Adipose
6	chr1:214687600-214690800	Enhancers	Fetal Intestine Large	intestine
7	chr1:214687800-214698400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:214688000-214690600	Enhancers	HMEC	breast
9	chr1:214688200-214690600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:214688200-214692000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:214688200-214693800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:214688400-214690600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:214688400-214690800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:214688400-214692000	Enhancers	NH-A	brain
15	chr1:214688400-214697800	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:214688400-214698400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:214688400-214706200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:214688400-214710600	Weak transcription	Spleen	Spleen
19	chr1:214688600-214690600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:214688600-214693200	Enhancers	Osteobl	bone
21	chr1:214689000-214690600	Flanking Active TSS	A549	lung
22	chr1:214689000-214691200	Enhancers	Fetal Intestine Small	intestine
23	chr1:214689000-214692000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr1:214689000-214693000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:214689200-214690600	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:214689200-214690600	Enhancers	HepG2	liver
27	chr1:214689200-214691000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:214689200-214691200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr1:214689200-214691200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:214689200-214692200	Enhancers	HSMMtube	muscle
31	chr1:214689400-214690600	Enhancers	Psoas Muscle	Psoas
32	chr1:214689400-214690600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr1:214689400-214691000	Enhancers	Fetal Kidney	kidney
34	chr1:214689400-214691400	Enhancers	Placenta	Placenta
35	chr1:214689400-214694200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:214689400-214694400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:214689600-214690600	Enhancers	Esophagus	oesophagus
38	chr1:214689600-214690600	Enhancers	Left Ventricle	heart
39	chr1:214689600-214690600	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr1:214689600-214690600	Enhancers	Rectal Smooth Muscle	rectum
41	chr1:214689600-214690800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:214689600-214690800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:214689600-214690800	Enhancers	Stomach Mucosa	stomach
44	chr1:214689600-214692800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:214689800-214692600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:214689800-214693000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:214690000-214690600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:214690000-214690800	Genic enhancers	NHEK	skin
49	chr1:214690000-214691400	Weak transcription	NHLF	lung
50	chr1:214690000-214693800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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