Variant report

Variant	rs73218120
Chromosome Location	chr2:20549229-20549230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20525204..20529381-chr2:20546645..20551782,7	K562	blood:
2	chr2:20099437..20102980-chr2:20547960..20551663,4	K562	blood:
3	chr2:20489792..20492036-chr2:20546844..20549353,2	MCF-7	breast:
4	chr2:20523318..20529381-chr2:20544822..20552572,11	K562	blood:
5	chr2:20548847..20552407-chr2:20645405..20649585,5	MCF-7	breast:
6	chr2:20547530..20549329-chr2:20563243..20565387,2	MCF-7	breast:
7	chr2:20549000..20550935-chr2:20649579..20652329,2	MCF-7	breast:
8	chr11:65685171..65687731-chr2:20547276..20549842,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228950	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000055917	Chromatin interaction
ENSG00000183891	Chromatin interaction
ENSG00000143878	Chromatin interaction

rs_ID	r²[population]
rs34057700	0.96[AFR][1000 genomes]
rs56175611	0.86[AFR][1000 genomes]
rs57753286	0.88[AFR][1000 genomes]
rs73214387	0.88[AFR][1000 genomes]
rs73216297	0.96[AFR][1000 genomes]
rs73216299	0.96[AFR][1000 genomes]
rs73218109	1.00[AFR][1000 genomes]
rs73218119	1.00[AFR][1000 genomes]
rs73220046	0.83[AMR][1000 genomes]
rs73231458	0.80[AFR][1000 genomes]
rs73231460	0.86[AFR][1000 genomes]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20533800-20549400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:20545200-20549600	Weak transcription	Esophagus	oesophagus
3	chr2:20546200-20549400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr2:20546200-20549400	Enhancers	Stomach Mucosa	stomach
5	chr2:20546800-20549800	Weak transcription	Spleen	Spleen
6	chr2:20547400-20550000	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr2:20547600-20551800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:20547800-20549600	Weak transcription	Small Intestine	intestine
9	chr2:20547800-20550000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:20547800-20551400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:20548200-20549400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr2:20548200-20549400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr2:20548200-20549400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr2:20548200-20549600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr2:20548200-20549600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr2:20548200-20549600	Flanking Active TSS	Liver	Liver
17	chr2:20548200-20549600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr2:20548200-20549800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr2:20548200-20549800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:20548200-20549800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr2:20548200-20549800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr2:20548200-20549800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:20548200-20549800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:20548200-20550800	Active TSS	Stomach Smooth Muscle	stomach
25	chr2:20548400-20549400	Flanking Active TSS	HUVEC	blood vessel
26	chr2:20548400-20549600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:20548400-20549800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:20548400-20549800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr2:20548400-20551000	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr2:20548400-20551000	Active TSS	Colonic Mucosa	Colon
31	chr2:20548400-20551000	Active TSS	Fetal Intestine Large	intestine
32	chr2:20548400-20551200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:20548400-20551600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr2:20548600-20549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:20548600-20549400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:20548600-20549400	Active TSS	HepG2	liver
37	chr2:20548600-20549800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr2:20548600-20549800	Weak transcription	Pancreas	Pancrea
39	chr2:20548600-20550800	Active TSS	Placenta	Placenta
40	chr2:20548600-20551000	Active TSS	H1 Cell Line	embryonic stem cell
41	chr2:20548600-20551000	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr2:20548600-20551000	Active TSS	A549	lung
43	chr2:20548600-20551000	Active TSS	K562	blood
44	chr2:20548600-20551200	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr2:20548600-20551200	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr2:20548600-20551200	Active TSS	Fetal Intestine Small	intestine
47	chr2:20548600-20551200	Active TSS	Fetal Thymus	thymus
48	chr2:20548600-20551400	Active TSS	Right Ventricle	heart
49	chr2:20548600-20551600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:20548600-20551600	Active TSS	Ovary	ovary

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