Variant report

Variant	rs6720808
Chromosome Location	chr2:169659251-169659252
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:169659171..169661687-chr2:169702085..169706270,3	K562	blood:
2	chr2:169640528..169642089-chr2:169658914..169661880,2	K562	blood:

Variant related genes	Relation type
ENSG00000227617	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13398166	1.00[AMR][1000 genomes]
rs1521808	1.00[AMR][1000 genomes]
rs6724664	1.00[AMR][1000 genomes]
rs9287902	0.85[LWK][hapmap];1.00[MKK][hapmap]

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	nsv915920	chr2:168851960-169696591	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169656000-169666800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:169656600-169659400	Weak transcription	Gastric	stomach
3	chr2:169658200-169659400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:169658200-169659800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:169658400-169659400	Enhancers	Placenta	Placenta
6	chr2:169658400-169659800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:169658400-169659800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:169658400-169659800	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr2:169658400-169660000	Enhancers	HepG2	liver
10	chr2:169658400-169660400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:169658600-169659600	Enhancers	HUVEC	blood vessel
12	chr2:169658600-169659800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:169658600-169659800	Flanking Active TSS	K562	blood
14	chr2:169658600-169660000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:169658600-169660000	Flanking Active TSS	A549	lung
16	chr2:169658600-169660200	Active TSS	Rectal Smooth Muscle	rectum
17	chr2:169658600-169662200	Active TSS	Right Atrium	heart
18	chr2:169658800-169659400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:169658800-169659600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:169658800-169659600	Enhancers	NHDF-Ad	bronchial
21	chr2:169658800-169659800	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr2:169658800-169660000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:169658800-169660000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:169658800-169660000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr2:169658800-169660000	Active TSS	Stomach Mucosa	stomach
26	chr2:169658800-169660200	Enhancers	Dnd41	blood
27	chr2:169658800-169660400	Weak transcription	Small Intestine	intestine
28	chr2:169658800-169661000	Active TSS	Stomach Smooth Muscle	stomach
29	chr2:169658800-169661200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:169658800-169661200	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr2:169659000-169659400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:169659000-169659400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:169659000-169659400	Active TSS	Hela-S3	cervix
34	chr2:169659000-169659800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:169659000-169659800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr2:169659000-169659800	Active TSS	Fetal Kidney	kidney
37	chr2:169659000-169659800	Flanking Active TSS	Left Ventricle	heart
38	chr2:169659000-169660200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr2:169659000-169661000	Active TSS	Colonic Mucosa	Colon
40	chr2:169659000-169661000	Active TSS	Psoas Muscle	Psoas
41	chr2:169659000-169661200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr2:169659000-169661200	Active TSS	Lung	lung
43	chr2:169659000-169665800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:169659000-169668200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:169659200-169659400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:169659200-169659400	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr2:169659200-169659400	Enhancers	Fetal Lung	lung
48	chr2:169659200-169659400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr2:169659200-169659400	Enhancers	Osteobl	bone
50	chr2:169659200-169659600	Enhancers	Primary T cells from cord blood	blood

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