Variant report

Variant	rs536231113
Chromosome Location	chr2:20550036-20550037
allele	C/G
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	chr1:52194828..52195735-chr2:20549887..20550726,2	Hela-S3	cervix:
4	chr2:20549379..20553875-chr2:20644345..20648832,13	MCF-7	breast:
5	chr2:20523318..20529381-chr2:20544822..20552572,11	K562	blood:
6	chr2:20548847..20552407-chr2:20645405..20649585,5	MCF-7	breast:
7	chr2:20549000..20550935-chr2:20649579..20652329,2	MCF-7	breast:
8	chr2:20549505..20552081-chr2:20849266..20851365,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143878	Chromatin interaction
ENSG00000183891	Chromatin interaction
ENSG00000055917	Chromatin interaction
ENSG00000117859	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000118960	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3423314	chr2:20549496-20552044	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20547600-20551800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:20547800-20551400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:20548200-20550800	Active TSS	Stomach Smooth Muscle	stomach
4	chr2:20548400-20551000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr2:20548400-20551000	Active TSS	Colonic Mucosa	Colon
6	chr2:20548400-20551000	Active TSS	Fetal Intestine Large	intestine
7	chr2:20548400-20551200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:20548400-20551600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr2:20548600-20550800	Active TSS	Placenta	Placenta
10	chr2:20548600-20551000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr2:20548600-20551000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:20548600-20551000	Active TSS	A549	lung
13	chr2:20548600-20551000	Active TSS	K562	blood
14	chr2:20548600-20551200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:20548600-20551200	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr2:20548600-20551200	Active TSS	Fetal Intestine Small	intestine
17	chr2:20548600-20551200	Active TSS	Fetal Thymus	thymus
18	chr2:20548600-20551400	Active TSS	Right Ventricle	heart
19	chr2:20548600-20551600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:20548600-20551600	Active TSS	Ovary	ovary
21	chr2:20548600-20551800	Active TSS	Thymus	Thymus
22	chr2:20548800-20550200	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr2:20548800-20550800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:20548800-20551000	Active TSS	Primary T cells fromperipheralblood	blood
25	chr2:20548800-20551000	Active TSS	Fetal Brain Female	brain
26	chr2:20548800-20551000	Active TSS	Fetal Muscle Leg	muscle
27	chr2:20548800-20551000	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr2:20548800-20551200	Active TSS	Fetal Lung	lung
29	chr2:20548800-20551200	Active TSS	NHDF-Ad	bronchial
30	chr2:20548800-20551400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:20548800-20551400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:20548800-20551600	Active TSS	Fetal Kidney	kidney
33	chr2:20548800-20551600	Active TSS	Psoas Muscle	Psoas
34	chr2:20549000-20550800	Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:20549000-20550800	Active TSS	Fetal Brain Male	brain
36	chr2:20549000-20550800	Active TSS	HMEC	breast
37	chr2:20549000-20550800	Active TSS	NH-A	brain
38	chr2:20549000-20551000	Active TSS	GM12878-XiMat	blood
39	chr2:20549000-20551000	Active TSS	HSMMtube	muscle
40	chr2:20549000-20551200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:20549000-20551200	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr2:20549000-20551200	Active TSS	Brain Hippocampus Middle	brain
43	chr2:20549000-20551200	Active TSS	Hela-S3	cervix
44	chr2:20549000-20551200	Active TSS	NHLF	lung
45	chr2:20549000-20552000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:20549200-20550800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:20549200-20550800	Active TSS	Fetal Muscle Trunk	muscle
48	chr2:20549200-20551000	Active TSS	Fetal Stomach	stomach
49	chr2:20549200-20551000	Active TSS	HSMM	muscle
50	chr2:20549200-20551000	Active TSS	NHEK	skin

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