Variant report

Variant	rs72793875
Chromosome Location	chr2:30727074-30727075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30719917..30724610-chr2:30726684..30729828,4	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1031235	1.00[ASN][1000 genomes]
rs1562416	1.00[ASN][1000 genomes]
rs56057763	1.00[ASN][1000 genomes]
rs62139628	1.00[ASN][1000 genomes]
rs62139654	1.00[ASN][1000 genomes]
rs62142170	1.00[ASN][1000 genomes]
rs6727586	1.00[ASN][1000 genomes]
rs72791821	1.00[AMR][1000 genomes]
rs72798163	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72798172	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9677363	1.00[ASN][1000 genomes]

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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30715600-30732800	Weak transcription	Hela-S3	cervix
2	chr2:30716000-30727600	Weak transcription	Small Intestine	intestine
3	chr2:30716000-30728000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:30721200-30727400	Weak transcription	NHLF	lung
5	chr2:30721400-30728400	Weak transcription	Liver	Liver
6	chr2:30721400-30739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:30722000-30727600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:30724000-30727400	Weak transcription	NHDF-Ad	bronchial
9	chr2:30724000-30732600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:30724200-30727200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:30724200-30727600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:30724200-30728000	Weak transcription	HepG2	liver
13	chr2:30724200-30728400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:30724200-30728400	Weak transcription	K562	blood
15	chr2:30724200-30733400	Weak transcription	Fetal Intestine Large	intestine
16	chr2:30724200-30733800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:30724200-30734000	Weak transcription	Ovary	ovary
18	chr2:30724200-30737400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:30724600-30737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:30725200-30729000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:30725200-30729000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr2:30725200-30729000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr2:30725400-30728200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:30725400-30729000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:30725400-30729000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:30725600-30727200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:30725600-30727800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr2:30725600-30727800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr2:30725600-30728000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:30725600-30728800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:30725600-30729000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:30725600-30729000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr2:30725600-30729400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr2:30725800-30728800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:30726000-30728000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:30726000-30728200	Enhancers	Fetal Stomach	stomach
37	chr2:30726000-30728800	Enhancers	Fetal Lung	lung
38	chr2:30726200-30727400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:30726200-30732400	Weak transcription	Left Ventricle	heart
40	chr2:30726200-30734200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:30726200-30742600	Weak transcription	Pancreas	Pancrea
42	chr2:30726400-30730000	Enhancers	Fetal Heart	heart
43	chr2:30726400-30733400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:30726400-30733800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:30726400-30734200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:30726600-30727800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:30726600-30728200	Enhancers	Colon Smooth Muscle	Colon
48	chr2:30726600-30729000	Enhancers	Primary B cells from peripheral blood	blood
49	chr2:30726600-30737000	Weak transcription	Stomach Mucosa	stomach
50	chr2:30726800-30727600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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