Variant report

Variant	rs72888933
Chromosome Location	chr2:62972644-62972645
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	chr2:62970786..62972679-chr2:62986051..62988226,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56948083	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58414922	0.86[AFR][1000 genomes]
rs58893981	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888921	0.83[AFR][1000 genomes]
rs72888923	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888930	0.86[AFR][1000 genomes]
rs72888931	0.87[AFR][1000 genomes]
rs72890520	0.82[AFR][1000 genomes]
rs73934285	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62953600-63001200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:62958200-62975000	Weak transcription	Pancreas	Pancrea
3	chr2:62958200-62981400	Weak transcription	Fetal Stomach	stomach
4	chr2:62958200-62981600	Weak transcription	Esophagus	oesophagus
5	chr2:62958200-62982800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:62958200-63010200	Weak transcription	Primary B cells from cord blood	blood
7	chr2:62960000-62981200	Weak transcription	Fetal Intestine Small	intestine
8	chr2:62961200-62977200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:62961200-62981400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:62961200-63011600	Weak transcription	NHLF	lung
11	chr2:62962000-62981400	Weak transcription	Aorta	Aorta
12	chr2:62963600-62974600	Enhancers	A549	lung
13	chr2:62964400-62977000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:62964800-62975000	Weak transcription	Small Intestine	intestine
15	chr2:62964800-62977200	Weak transcription	Psoas Muscle	Psoas
16	chr2:62965000-62981400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:62965200-62981400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:62967000-62997000	Weak transcription	Dnd41	blood
19	chr2:62967800-62976400	Weak transcription	Brain Germinal Matrix	brain
20	chr2:62968000-62973400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:62968400-62980800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:62968400-62995200	Weak transcription	Left Ventricle	heart
23	chr2:62968600-62975000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:62968600-62976200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:62969400-62974600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:62969600-62973000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:62969600-62973400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:62969600-62974800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:62969600-62974800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:62969600-62974800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:62969800-62973400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:62969800-62974800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:62969800-62981600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:62969800-62982800	Weak transcription	NHEK	skin
35	chr2:62969800-62987600	Weak transcription	HMEC	breast
36	chr2:62970000-62976200	Weak transcription	Osteobl	bone
37	chr2:62970200-62975200	Enhancers	Liver	Liver
38	chr2:62970400-62974800	Weak transcription	HSMM	muscle
39	chr2:62970600-62972800	Enhancers	Colon Smooth Muscle	Colon
40	chr2:62970600-62973000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:62970800-62974600	Weak transcription	NHDF-Ad	bronchial
42	chr2:62970800-62975000	Weak transcription	GM12878-XiMat	blood
43	chr2:62971200-62972800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:62971600-62973400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr2:62971600-62973400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:62972000-62972800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:62972000-62972800	Weak transcription	Ovary	ovary
48	chr2:62972000-62972800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:62972000-62981200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:62972200-62973000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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