Variant report

Variant	rs72856644
Chromosome Location	chr2:30727956-30727957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30727663..30729408-chr2:30731919..30733785,2	K562	blood:
2	chr2:30727521..30729274-chr2:30737533..30740125,3	K562	blood:
3	chr2:30719917..30724610-chr2:30726684..30729828,4	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs57847208	1.00[EUR][1000 genomes]
rs60320955	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60449073	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6748456	1.00[EUR][1000 genomes]
rs72853177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72853183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72856612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72856616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72856621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72856642	0.83[AMR][1000 genomes]
rs72856655	0.88[AFR][1000 genomes]
rs72856659	1.00[EUR][1000 genomes]
rs72856689	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72859002	1.00[EUR][1000 genomes]
rs72863013	0.88[AFR][1000 genomes]
rs72863023	1.00[EUR][1000 genomes]
rs72863101	1.00[EUR][1000 genomes]
rs72865406	1.00[EUR][1000 genomes]
rs7563318	0.93[AFR][1000 genomes]
rs7582446	1.00[EUR][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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30715600-30732800	Weak transcription	Hela-S3	cervix
2	chr2:30716000-30728000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:30721400-30728400	Weak transcription	Liver	Liver
4	chr2:30721400-30739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:30724000-30732600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:30724200-30728000	Weak transcription	HepG2	liver
7	chr2:30724200-30728400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:30724200-30728400	Weak transcription	K562	blood
9	chr2:30724200-30733400	Weak transcription	Fetal Intestine Large	intestine
10	chr2:30724200-30733800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:30724200-30734000	Weak transcription	Ovary	ovary
12	chr2:30724200-30737400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:30724600-30737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:30725200-30729000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:30725200-30729000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:30725200-30729000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:30725400-30728200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:30725400-30729000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:30725400-30729000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr2:30725600-30728000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:30725600-30728800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:30725600-30729000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr2:30725600-30729000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr2:30725600-30729400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr2:30725800-30728800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:30726000-30728000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:30726000-30728200	Enhancers	Fetal Stomach	stomach
28	chr2:30726000-30728800	Enhancers	Fetal Lung	lung
29	chr2:30726200-30732400	Weak transcription	Left Ventricle	heart
30	chr2:30726200-30734200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:30726200-30742600	Weak transcription	Pancreas	Pancrea
32	chr2:30726400-30730000	Enhancers	Fetal Heart	heart
33	chr2:30726400-30733400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:30726400-30733800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:30726400-30734200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:30726600-30728200	Enhancers	Colon Smooth Muscle	Colon
37	chr2:30726600-30729000	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:30726600-30737000	Weak transcription	Stomach Mucosa	stomach
39	chr2:30726800-30728000	Weak transcription	A549	lung
40	chr2:30726800-30729000	Enhancers	Primary T cells from cord blood	blood
41	chr2:30726800-30729400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:30726800-30729600	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr2:30727000-30728200	Enhancers	Primary hematopoietic stem cells	blood
44	chr2:30727000-30728800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr2:30727000-30734400	Weak transcription	Psoas Muscle	Psoas
46	chr2:30727400-30728200	Enhancers	NHDF-Ad	bronchial
47	chr2:30727400-30728400	Enhancers	GM12878-XiMat	blood
48	chr2:30727400-30728800	Enhancers	NHLF	lung
49	chr2:30727600-30728000	Enhancers	Fetal Brain Female	brain
50	chr2:30727600-30728200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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