Variant report

Variant	rs73218119
Chromosome Location	chr2:20547711-20547712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20546484..20549072-chr2:20556049..20557768,2	MCF-7	breast:
2	chr2:20525204..20529381-chr2:20546645..20551782,7	K562	blood:
3	chr2:20489792..20492036-chr2:20546844..20549353,2	MCF-7	breast:
4	chr2:20523318..20529381-chr2:20544822..20552572,11	K562	blood:
5	chr2:20547530..20549329-chr2:20563243..20565387,2	MCF-7	breast:
6	chr2:20546366..20548868-chr2:20557899..20560601,2	K562	blood:
7	chr11:65685171..65687731-chr2:20547276..20549842,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175550	Chromatin interaction
ENSG00000055917	Chromatin interaction
ENSG00000175573	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13383113	0.89[AMR][1000 genomes]
rs34057700	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56021041	0.89[AMR][1000 genomes]
rs56175611	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57753286	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61039314	0.89[AMR][1000 genomes]
rs73214387	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216297	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216299	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218120	1.00[AFR][1000 genomes]
rs73231458	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73231460	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20527800-20548200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:20527800-20549200	Weak transcription	Aorta	Aorta
3	chr2:20531000-20549200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:20531400-20547800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:20533800-20549400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:20542200-20548200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr2:20542400-20548400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:20542800-20548400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:20543400-20548200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:20543400-20548200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:20544000-20548800	Enhancers	Fetal Heart	heart
12	chr2:20545000-20548400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:20545200-20549600	Weak transcription	Esophagus	oesophagus
14	chr2:20545400-20548200	Weak transcription	Placenta	Placenta
15	chr2:20545400-20548200	Weak transcription	Thymus	Thymus
16	chr2:20545400-20548400	Weak transcription	Left Ventricle	heart
17	chr2:20545400-20548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:20545600-20548400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:20545800-20547800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr2:20545800-20548200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr2:20546000-20547800	Enhancers	Small Intestine	intestine
22	chr2:20546000-20548000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:20546000-20548200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr2:20546000-20548400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr2:20546200-20548200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:20546200-20548400	Enhancers	Brain Angular Gyrus	brain
27	chr2:20546200-20548400	Enhancers	Brain Substantia Nigra	brain
28	chr2:20546200-20548800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr2:20546200-20549400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr2:20546200-20549400	Enhancers	Stomach Mucosa	stomach
31	chr2:20546400-20547800	Enhancers	Fetal Stomach	stomach
32	chr2:20546400-20547800	Enhancers	Osteobl	bone
33	chr2:20546400-20548000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:20546400-20548200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr2:20546400-20548200	Enhancers	Right Ventricle	heart
36	chr2:20546400-20548400	Enhancers	Adipose Nuclei	Adipose
37	chr2:20546400-20548400	Enhancers	Psoas Muscle	Psoas
38	chr2:20546400-20548400	Enhancers	Right Atrium	heart
39	chr2:20546400-20548600	Enhancers	Fetal Brain Male	brain
40	chr2:20546400-20548800	Enhancers	Primary B cells from cord blood	blood
41	chr2:20546400-20549000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:20546400-20549200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr2:20546600-20548000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:20546600-20548000	Genic enhancers	Hela-S3	cervix
45	chr2:20546600-20548200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:20546600-20548200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:20546600-20548200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:20546600-20548200	Enhancers	Colonic Mucosa	Colon
49	chr2:20546600-20548200	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr2:20546600-20549000	Enhancers	Brain Anterior Caudate	brain

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