Variant report

Variant	rs12614845
Chromosome Location	chr2:55998590-55998591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55998188..55999614-chr2:56188128..56189121,13	MCF-7	breast:
2	chr2:55998494..55999415-chr2:56188226..56189063,2	MCF-7	breast:
3	chr2:55998559..56000178-chr2:56148124..56150854,2	MCF-7	breast:
4	chr2:55998478..55999313-chr2:56236137..56237588,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115380	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11125600	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11676678	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693187	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11694759	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11694790	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887339	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13404193	0.95[ASN][1000 genomes]
rs1430191	0.81[AMR][1000 genomes]
rs1430198	0.95[ASN][1000 genomes]
rs1430199	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430200	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465624	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465625	0.90[ASN][1000 genomes]
rs1961386	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4233963	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4671259	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4672069	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6723918	0.95[ASN][1000 genomes]
rs6742316	0.91[ASN][1000 genomes]
rs6747885	0.83[ASN][1000 genomes]
rs6761334	0.89[ASN][1000 genomes]
rs7560508	0.95[ASN][1000 genomes]
rs7577894	0.89[ASN][1000 genomes]
rs9309269	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309270	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs934274	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs934275	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs934276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934277	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv999962	chr2:55976574-56011517	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv997683	chr2:55976574-56013875	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv431080	chr2:55988293-56011517	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55989400-56015000	Weak transcription	Aorta	Aorta
2	chr2:55996400-55999200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:55996400-55999200	Weak transcription	Osteobl	bone
4	chr2:55996800-55999000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:55996800-55999400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:55997000-55999200	Weak transcription	HMEC	breast
7	chr2:55997000-55999200	Weak transcription	HSMM	muscle
8	chr2:55997000-55999200	Weak transcription	NHEK	skin
9	chr2:55997200-55999200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:55997200-55999200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:55997600-56000000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:55997800-55998600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:55998200-55999200	Enhancers	A549	lung
14	chr2:55998200-56000200	Enhancers	HUVEC	blood vessel
15	chr2:55998400-55999200	Weak transcription	HSMMtube	muscle
16	chr2:55998400-56000000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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