Variant report

Variant	rs72953789
Chromosome Location	chr2:100578969-100578970
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	chr2:100577188..100580714-chr2:100582263..100586787,5	MCF-7	breast:

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

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

rs_ID	r²[population]
rs17023356	1.00[AFR][1000 genomes]
rs6758669	0.92[AFR][1000 genomes]
rs72953781	0.88[AFR][1000 genomes]
rs72953793	0.92[AFR][1000 genomes]
rs72953796	1.00[AFR][1000 genomes]
rs72955703	1.00[AFR][1000 genomes]
rs72955705	1.00[AFR][1000 genomes]
rs72955708	1.00[AFR][1000 genomes]
rs72955712	1.00[AFR][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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1003114	chr2:100480432-100601586	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100550800-100618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:100563200-100625400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:100564800-100617000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:100569600-100584000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:100570600-100598400	Weak transcription	Dnd41	blood
6	chr2:100573800-100599600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:100574400-100591000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:100574800-100583800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:100574800-100584000	Weak transcription	Primary T cells from cord blood	blood
10	chr2:100577200-100590800	Weak transcription	Fetal Kidney	kidney
11	chr2:100577400-100579000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:100577400-100618200	Weak transcription	Aorta	Aorta
13	chr2:100577600-100585200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:100577600-100587000	Weak transcription	Lung	lung
15	chr2:100577800-100603400	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:100577800-100607400	Weak transcription	Thymus	Thymus
17	chr2:100577800-100623000	Weak transcription	Adipose Nuclei	Adipose
18	chr2:100577800-100623000	Weak transcription	Brain Angular Gyrus	brain
19	chr2:100578000-100580600	Weak transcription	Primary B cells from cord blood	blood
20	chr2:100578000-100589600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:100578000-100616200	Weak transcription	Fetal Thymus	thymus
22	chr2:100578400-100589000	Weak transcription	Fetal Brain Female	brain
23	chr2:100578400-100591000	Weak transcription	Fetal Brain Male	brain
24	chr2:100578800-100583600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:100578800-100588800	Weak transcription	Fetal Lung	lung
26	chr2:100578800-100589200	Weak transcription	Gastric	stomach

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