Variant report

Variant	rs72804437
Chromosome Location	chr2:47033049-47033050
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46769797..46771941-chr2:47031665..47033982,2	MCF-7	breast:
2	chr2:47029275..47032064-chr2:47032266..47033892,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119729	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17035709	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17824594	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55980660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56060227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56172110	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72804436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72804438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72804445	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72804446	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72804450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72804451	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72804452	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72804458	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72804469	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72804470	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 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	chr2:47025000-47034600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:47026600-47038800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:47027200-47034800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:47027400-47034400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:47027600-47034400	Enhancers	HMEC	breast
6	chr2:47028600-47034400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:47028600-47034400	Enhancers	NH-A	brain
8	chr2:47028800-47034400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:47029000-47034400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:47029400-47034400	Enhancers	NHLF	lung
11	chr2:47029800-47034000	Weak transcription	Aorta	Aorta
12	chr2:47030000-47038600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:47030800-47034200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:47030800-47035200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:47031000-47038800	Weak transcription	Fetal Heart	heart
16	chr2:47031400-47034000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:47031400-47034400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:47031400-47034400	Enhancers	NHEK	skin
19	chr2:47031400-47034600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:47031400-47034600	Enhancers	NHDF-Ad	bronchial
21	chr2:47031400-47034600	Enhancers	Osteobl	bone
22	chr2:47031400-47038600	Weak transcription	Esophagus	oesophagus
23	chr2:47031400-47038600	Weak transcription	Lung	lung
24	chr2:47031400-47038600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:47031400-47043600	Weak transcription	Spleen	Spleen
26	chr2:47031400-47052000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:47032400-47033600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:47032600-47034200	Enhancers	Left Ventricle	heart
29	chr2:47033000-47033400	Weak transcription	HSMM	muscle
30	chr2:47033000-47038600	Weak transcription	Right Atrium	heart
31	chr2:47033000-47038800	Weak transcription	Right Ventricle	heart

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