Variant report

Variant	rs72882831
Chromosome Location	chr2:46997874-46997875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46990483..46993440-chr2:46995579..46997950,2	MCF-7	breast:
2	chr2:46991531..46994585-chr2:46996184..46999045,3	K562	blood:
3	chr2:46992530..46995162-chr2:46996184..46999051,3	K562	blood:
4	chr2:46946506..46948828-chr2:46997236..46999160,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs41481545	0.86[AFR][1000 genomes]
rs60426444	0.93[AFR][1000 genomes]
rs60794693	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6715737	0.93[AFR][1000 genomes]
rs72881392	0.86[AFR][1000 genomes]
rs72881398	0.89[AFR][1000 genomes]
rs72882817	0.93[AFR][1000 genomes]
rs72882819	0.93[AFR][1000 genomes]
rs72882829	1.00[AFR][1000 genomes]
rs72882832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72882838	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
2	chr2:46984400-46998600	Weak transcription	Fetal Brain Male	brain
3	chr2:46985600-46998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:46987400-47005600	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:46987400-47005600	Weak transcription	Left Ventricle	heart
7	chr2:46987600-47006000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:46992400-47005400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:46995000-46999000	Enhancers	Osteobl	bone
10	chr2:46995200-46999000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:46996000-47005200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:46997000-46998200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:46997000-46998200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:46997000-46998200	Enhancers	Fetal Lung	lung
15	chr2:46997000-46998400	Enhancers	NHLF	lung
16	chr2:46997000-46999000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:46997200-46998000	Enhancers	HSMM	muscle
18	chr2:46997200-46998200	Enhancers	NH-A	brain
19	chr2:46997400-46998000	Enhancers	Fetal Intestine Large	intestine
20	chr2:46997400-46998200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:46997400-46998200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:46997400-46998200	Enhancers	Fetal Stomach	stomach
23	chr2:46997400-46998200	Flanking Active TSS	HepG2	liver
24	chr2:46997400-46998800	Enhancers	NHDF-Ad	bronchial
25	chr2:46997600-46998000	Active TSS	A549	lung
26	chr2:46997600-46998200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:46997600-46998200	Enhancers	Fetal Intestine Small	intestine
28	chr2:46997800-46998000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr2:46997800-46998200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:46997800-46998200	Enhancers	Liver	Liver
31	chr2:46997800-46998200	Active TSS	Ovary	ovary

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