Variant report

Variant	rs4954916
Chromosome Location	chr2:142288723-142288724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142288498..142290059-chr2:142292199..142295076,2	MCF-7	breast:
2	chr2:142260415..142263091-chr2:142286815..142289016,3	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10184273	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs10203978	0.93[CEU][hapmap];0.90[CHB][hapmap]
rs10204518	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs10496882	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs12993511	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13391905	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs1384661	0.85[CEU][hapmap]
rs1384662	0.86[CEU][hapmap]
rs1384665	0.86[CEU][hapmap]
rs1483137	0.85[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1483139	0.86[CEU][hapmap];0.82[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1483140	0.85[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1483146	0.85[CEU][hapmap]
rs1483147	0.86[CEU][hapmap]
rs17551988	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17617302	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2009574	0.86[CEU][hapmap]
rs35780951	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36031377	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4264514	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4384718	0.84[ASN][1000 genomes]
rs4591293	0.81[CEU][hapmap];0.83[JPT][hapmap]
rs4611596	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6429912	0.85[CEU][hapmap]
rs6723276	0.91[JPT][hapmap]
rs6747911	0.81[CEU][hapmap]
rs713263	0.85[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71417147	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7585091	0.85[CEU][hapmap];0.83[JPT][hapmap]
rs764820	0.84[CEU][hapmap]
rs9287318	0.86[CHB][hapmap];0.95[JPT][hapmap]

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	nsv583203	chr2:142055133-142378975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875240	chr2:142199421-142347455	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv470491	chr2:142254119-142299923	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv834393	chr2:142256714-142431564	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv583210	chr2:142259592-142295042	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv459629	chr2:142263400-142295042	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv583211	chr2:142263400-142295042	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv583212	chr2:142263979-142309330	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142278800-142291200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:142280600-142291600	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:142284600-142291600	Weak transcription	Brain Substantia Nigra	brain
4	chr2:142287400-142291200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:142287400-142291200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:142287600-142291600	Weak transcription	GM12878-XiMat	blood

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