Variant report

Variant	rs12481403
Chromosome Location	chr20:16550951-16550952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:16549901..16551714-chr20:16554248..16557125,2	MCF-7	breast:
2	chr20:16550254..16552061-chr20:16552606..16554108,2	MCF-7	breast:
3	chr20:16548883..16552471-chr20:16553921..16556810,5	K562	blood:
4	chr20:16507244..16509021-chr20:16550552..16553187,2	MCF-7	breast:
5	chr20:16550509..16554024-chr20:16560848..16563415,3	MCF-7	breast:
6	chr20:16550822..16552324-chr20:16553921..16556799,2	K562	blood:

Variant related genes	Relation type
ENSG00000089177	Chromatin interaction

rs_ID	r²[population]
rs17681978	0.85[AMR][1000 genomes]
rs17743285	0.90[AMR][1000 genomes]
rs28763700	0.85[AMR][1000 genomes]
rs6075068	0.90[AMR][1000 genomes]
rs6075069	0.90[AMR][1000 genomes]
rs6075076	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6075083	0.88[AMR][1000 genomes]
rs6080295	0.90[AMR][1000 genomes]
rs6080296	0.90[AMR][1000 genomes]
rs6080297	0.90[AMR][1000 genomes]
rs6080314	0.87[AMR][1000 genomes]
rs6080322	0.85[AMR][1000 genomes]
rs880800	0.90[AMR][1000 genomes]

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16509200-16553000	Weak transcription	Primary T cells from cord blood	blood
2	chr20:16534600-16553600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:16536000-16551400	Weak transcription	Right Ventricle	heart
4	chr20:16537200-16552000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr20:16537400-16551200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:16537400-16553400	Weak transcription	Aorta	Aorta
7	chr20:16537600-16551400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:16537600-16551400	Weak transcription	Esophagus	oesophagus
9	chr20:16537600-16551800	Weak transcription	Adipose Nuclei	Adipose
10	chr20:16539200-16551400	Weak transcription	Lung	lung
11	chr20:16541800-16551800	Weak transcription	Left Ventricle	heart
12	chr20:16543200-16551400	Weak transcription	Psoas Muscle	Psoas
13	chr20:16544200-16552600	Weak transcription	A549	lung
14	chr20:16544400-16553000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr20:16544600-16553000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr20:16545600-16551800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr20:16545800-16551800	Weak transcription	Gastric	stomach
18	chr20:16546600-16551600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr20:16546600-16551800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr20:16546600-16553400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:16546800-16552800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr20:16547000-16552000	Weak transcription	Fetal Muscle Leg	muscle
23	chr20:16547200-16551400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr20:16547200-16552200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr20:16547200-16552800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr20:16547200-16552800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr20:16547200-16553000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr20:16548200-16551400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr20:16548800-16551600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr20:16548800-16552000	Enhancers	Duodenum Mucosa	Duodenum
31	chr20:16549600-16552800	Enhancers	HepG2	liver
32	chr20:16549800-16551400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr20:16549800-16551800	Weak transcription	Small Intestine	intestine
34	chr20:16550000-16551800	Weak transcription	Colonic Mucosa	Colon
35	chr20:16550000-16553000	Weak transcription	Stomach Mucosa	stomach
36	chr20:16550000-16553200	Weak transcription	Fetal Kidney	kidney
37	chr20:16550200-16551400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr20:16550200-16551400	Weak transcription	Pancreas	Pancrea
39	chr20:16550200-16551800	Weak transcription	Fetal Intestine Small	intestine
40	chr20:16550400-16552200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr20:16550400-16553000	Weak transcription	Fetal Intestine Large	intestine
42	chr20:16550400-16553200	Weak transcription	GM12878-XiMat	blood
43	chr20:16550600-16551600	Enhancers	NHEK	skin
44	chr20:16550600-16551800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr20:16550800-16551200	Weak transcription	Liver	Liver
46	chr20:16550800-16551600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr20:16550800-16551800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr20:16550800-16552800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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