Variant report

Variant	rs72871227
Chromosome Location	chr2:151000647-151000648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:150994702..150996343-chr2:150998430..151000789,2	MCF-7	breast:
2	chr2:151000017..151002237-chr2:151341838..151343346,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115963	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10497043	0.85[ASN][1000 genomes]
rs11690111	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17349216	0.85[ASN][1000 genomes]
rs66854919	0.85[ASN][1000 genomes]
rs67082067	0.85[ASN][1000 genomes]
rs67402538	0.85[ASN][1000 genomes]
rs68028498	0.85[ASN][1000 genomes]
rs68172038	0.85[ASN][1000 genomes]
rs72869702	0.85[ASN][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	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv469524	chr2:150927500-151076920	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:150996800-151002400	Enhancers	NH-A	brain
2	chr2:150997000-151001000	Enhancers	NHEK	skin
3	chr2:150997000-151001800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:150997200-151002000	Enhancers	HMEC	breast
5	chr2:150997400-151002000	Enhancers	Osteobl	bone
6	chr2:150997600-151001400	Enhancers	NHDF-Ad	bronchial
7	chr2:150997600-151001600	Weak transcription	Fetal Brain Male	brain
8	chr2:150997600-151002000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:150997600-151002200	Enhancers	HSMM	muscle
10	chr2:150997800-151000800	Enhancers	NHLF	lung
11	chr2:150997800-151002000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:150998800-151001400	Weak transcription	Fetal Brain Female	brain
13	chr2:150999000-151002000	Enhancers	HUVEC	blood vessel
14	chr2:150999200-151000800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr2:150999400-151001800	Enhancers	A549	lung
16	chr2:150999600-151002000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:151000000-151001200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:151000000-151001200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:151000000-151002600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:151000400-151001600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:151000400-151002000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:151000600-151001400	Enhancers	HSMMtube	muscle

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