Variant report

Variant	rs72950245
Chromosome Location	chr2:111979520-111979521
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111978052..111980710-chr2:111981576..111984099,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6759769	1.00[AMR][1000 genomes]
rs72950235	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950246	1.00[AMR][1000 genomes]
rs72950249	1.00[AMR][1000 genomes]
rs72950252	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv874843	chr2:111966947-112023328	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111954800-112006800	Weak transcription	HUVEC	blood vessel
2	chr2:111972400-111984400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:111972800-111982800	Weak transcription	HepG2	liver
4	chr2:111973000-111979600	Weak transcription	Adipose Nuclei	Adipose
5	chr2:111974800-111984800	Weak transcription	NHDF-Ad	bronchial
6	chr2:111975000-111985600	Weak transcription	Esophagus	oesophagus
7	chr2:111975200-111979600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:111975200-111979600	Weak transcription	Right Atrium	heart
9	chr2:111975200-111980200	Weak transcription	Right Ventricle	heart
10	chr2:111975200-112008200	Weak transcription	Pancreas	Pancrea
11	chr2:111975400-111982800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:111975400-111983000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:111977400-111984600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:111977600-111984400	Weak transcription	HSMMtube	muscle
15	chr2:111977600-112011400	Weak transcription	A549	lung
16	chr2:111977800-111979800	ZNF genes & repeats	GM12878-XiMat	blood
17	chr2:111977800-111982800	Weak transcription	HSMM	muscle
18	chr2:111979000-111980200	Enhancers	Primary B cells from peripheral blood	blood
19	chr2:111979000-111980200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:111979000-111980600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:111979000-111980800	Enhancers	Liver	Liver
22	chr2:111979200-111980000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:111979200-111980400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:111979200-111980400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:111979400-111979800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:111979400-111979800	Enhancers	Placenta	Placenta
27	chr2:111979400-111979800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:111979400-111979800	Enhancers	Spleen	Spleen
29	chr2:111979400-111980000	Enhancers	Left Ventricle	heart
30	chr2:111979400-111980200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:111979400-111980600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr2:111979400-111980600	Enhancers	Monocytes-CD14+_RO01746	blood

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