Variant report

Variant	rs12480324
Chromosome Location	chr20:16520359-16520360
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	chr20:16515294..16517012-chr20:16519128..16521331,2	K562	blood:
2	chr20:16517798..16520614-chr20:16552938..16555340,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089177	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12479533	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17674942	0.94[ASN][1000 genomes]
rs17743285	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6044078	0.89[ASN][1000 genomes]
rs6044083	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6044111	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6044112	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6075067	0.97[ASN][1000 genomes]
rs6075068	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6075069	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080285	0.94[ASN][1000 genomes]
rs6080286	0.92[ASN][1000 genomes]
rs6080288	0.92[ASN][1000 genomes]
rs6080293	0.97[ASN][1000 genomes]
rs6080295	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080296	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080297	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080301	0.82[EUR][1000 genomes]
rs73101044	0.92[ASN][1000 genomes]
rs73101048	0.92[ASN][1000 genomes]
rs7352372	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs880800	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16485800-16521200	Weak transcription	Right Ventricle	heart
2	chr20:16489200-16521000	Weak transcription	Spleen	Spleen
3	chr20:16492600-16528800	Weak transcription	Primary B cells from cord blood	blood
4	chr20:16493000-16521200	Weak transcription	Liver	Liver
5	chr20:16497600-16521600	Weak transcription	Brain Hippocampus Middle	brain
6	chr20:16507400-16527000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr20:16508000-16522000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr20:16508400-16536800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr20:16509000-16522000	Weak transcription	Aorta	Aorta
10	chr20:16509200-16553000	Weak transcription	Primary T cells from cord blood	blood
11	chr20:16509600-16521600	Weak transcription	Fetal Muscle Leg	muscle
12	chr20:16511600-16522400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr20:16511600-16549000	Weak transcription	Colonic Mucosa	Colon
14	chr20:16514400-16522000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr20:16517400-16521000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr20:16517800-16521200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr20:16517800-16534200	Weak transcription	Esophagus	oesophagus
18	chr20:16518000-16521000	Weak transcription	Ovary	ovary
19	chr20:16518200-16521400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr20:16518200-16521600	Weak transcription	Left Ventricle	heart
21	chr20:16518200-16523200	Weak transcription	Small Intestine	intestine
22	chr20:16518200-16535800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr20:16518400-16521200	Weak transcription	Right Atrium	heart
24	chr20:16518400-16521600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr20:16518600-16521200	Weak transcription	Pancreas	Pancrea
26	chr20:16518600-16521200	Weak transcription	Psoas Muscle	Psoas
27	chr20:16518800-16520400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr20:16518800-16534000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr20:16519000-16522000	Weak transcription	Lung	lung
30	chr20:16519400-16520400	Enhancers	Fetal Intestine Small	intestine
31	chr20:16519400-16520600	Enhancers	Duodenum Mucosa	Duodenum
32	chr20:16519600-16520400	Enhancers	Stomach Mucosa	stomach
33	chr20:16519800-16520400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr20:16519800-16520600	Enhancers	A549	lung
35	chr20:16520000-16520400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr20:16520000-16520400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr20:16520200-16521200	Weak transcription	Adipose Nuclei	Adipose
38	chr20:16520200-16522000	Weak transcription	Osteobl	bone
39	chr20:16520200-16532000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr20:16520200-16534400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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