Variant report

Variant	rs115673854
Chromosome Location	chr2:20549514-20549515
allele	A/C
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	chr2:20549379..20553875-chr2:20644345..20648832,13	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	chr2:20549000..20550935-chr2:20649579..20652329,2	MCF-7	breast:
7	chr2:20549505..20552081-chr2:20849266..20851365,2	MCF-7	breast:
8	chr11:65685171..65687731-chr2:20547276..20549842,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183891	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000055917	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20545200-20549600	Weak transcription	Esophagus	oesophagus
2	chr2:20546800-20549800	Weak transcription	Spleen	Spleen
3	chr2:20547400-20550000	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr2:20547600-20551800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:20547800-20549600	Weak transcription	Small Intestine	intestine
6	chr2:20547800-20550000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:20547800-20551400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:20548200-20549600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr2:20548200-20549600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr2:20548200-20549600	Flanking Active TSS	Liver	Liver
11	chr2:20548200-20549600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr2:20548200-20549800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr2:20548200-20549800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:20548200-20549800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr2:20548200-20549800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr2:20548200-20549800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:20548200-20549800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:20548200-20550800	Active TSS	Stomach Smooth Muscle	stomach
19	chr2:20548400-20549600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:20548400-20549800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:20548400-20549800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr2:20548400-20551000	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr2:20548400-20551000	Active TSS	Colonic Mucosa	Colon
24	chr2:20548400-20551000	Active TSS	Fetal Intestine Large	intestine
25	chr2:20548400-20551200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:20548400-20551600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr2:20548600-20549800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr2:20548600-20549800	Weak transcription	Pancreas	Pancrea
29	chr2:20548600-20550800	Active TSS	Placenta	Placenta
30	chr2:20548600-20551000	Active TSS	H1 Cell Line	embryonic stem cell
31	chr2:20548600-20551000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:20548600-20551000	Active TSS	A549	lung
33	chr2:20548600-20551000	Active TSS	K562	blood
34	chr2:20548600-20551200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr2:20548600-20551200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr2:20548600-20551200	Active TSS	Fetal Intestine Small	intestine
37	chr2:20548600-20551200	Active TSS	Fetal Thymus	thymus
38	chr2:20548600-20551400	Active TSS	Right Ventricle	heart
39	chr2:20548600-20551600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:20548600-20551600	Active TSS	Ovary	ovary
41	chr2:20548600-20551800	Active TSS	Thymus	Thymus
42	chr2:20548800-20549600	Weak transcription	Lung	lung
43	chr2:20548800-20549600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:20548800-20549600	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr2:20548800-20549600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:20548800-20549800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:20548800-20549800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:20548800-20549800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:20548800-20550000	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr2:20548800-20550000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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