Variant report

Variant	rs72888917
Chromosome Location	chr2:62937431-62937432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:62936577..62938663-chr2:62945664..62948457,3	K562	blood:
2	chr2:62936577..62938224-chr2:62946603..62948457,2	K562	blood:
3	chr2:62936543..62938335-chr2:62950956..62952981,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11891134	1.00[AMR][1000 genomes]
rs17027450	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027529	1.00[AMR][1000 genomes]
rs17577380	0.82[AFR][1000 genomes]
rs2068312	1.00[AMR][1000 genomes]
rs4487076	1.00[AMR][1000 genomes]
rs57093504	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60575419	0.82[AFR][1000 genomes]
rs6744226	0.83[AFR][1000 genomes]
rs67789268	0.83[AFR][1000 genomes]
rs72888944	0.92[AFR][1000 genomes]
rs72888951	0.88[AFR][1000 genomes]
rs72888961	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62931800-62938000	Active TSS	Stomach Smooth Muscle	stomach
2	chr2:62933800-62938400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:62934200-62945800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:62934200-62957800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:62934200-62957800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:62934400-62938400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:62934400-62939800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:62934400-62957800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:62934600-62937600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:62934600-62940600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:62934600-62942200	Weak transcription	Spleen	Spleen
12	chr2:62934600-62943800	Weak transcription	Aorta	Aorta
13	chr2:62934600-62945000	Weak transcription	Right Ventricle	heart
14	chr2:62934600-62945400	Weak transcription	Fetal Thymus	thymus
15	chr2:62934600-62947400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:62934600-62951600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:62934600-62951800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:62934600-62951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:62934600-62951800	Weak transcription	Esophagus	oesophagus
20	chr2:62934600-62951800	Weak transcription	Left Ventricle	heart
21	chr2:62934600-62952400	Weak transcription	Gastric	stomach
22	chr2:62934600-62957800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:62934600-62957800	Weak transcription	Thymus	Thymus
24	chr2:62934600-62957800	Weak transcription	HSMMtube	muscle
25	chr2:62934800-62938600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:62934800-62938800	Weak transcription	Fetal Kidney	kidney
27	chr2:62934800-62939200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:62934800-62939600	Strong transcription	HSMM	muscle
29	chr2:62934800-62951800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:62935000-62948400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:62935200-62939000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:62935200-62943200	Weak transcription	HUVEC	blood vessel
33	chr2:62935200-62949000	Weak transcription	Fetal Intestine Large	intestine
34	chr2:62935400-62939400	ZNF genes & repeats	NHLF	lung
35	chr2:62935600-62939400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:62935600-62939800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:62935600-62940000	ZNF genes & repeats	GM12878-XiMat	blood
38	chr2:62935600-62941200	ZNF genes & repeats	NHDF-Ad	bronchial
39	chr2:62935600-62943400	Strong transcription	Primary hematopoietic stem cells	blood
40	chr2:62935800-62938400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:62935800-62939400	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr2:62935800-62939400	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:62935800-62943600	Weak transcription	Fetal Stomach	stomach
44	chr2:62935800-62957800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:62936000-62937800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:62936000-62939200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:62936000-62942800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:62936000-62943400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:62936000-62951800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:62936200-62939000	Weak transcription	Fetal Brain Male	brain

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