Variant report

Variant	rs985995
Chromosome Location	chr2:213341614-213341615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10166052	0.85[CHB][hapmap];0.89[ASN][1000 genomes]
rs10178687	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs10180614	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs10206719	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11678974	0.89[ASN][1000 genomes]
rs1384290	0.81[EUR][1000 genomes]
rs1384291	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs1482378	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1505369	0.85[ASN][1000 genomes]
rs1505376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17325842	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1842767	0.89[ASN][1000 genomes]
rs1847671	0.90[ASN][1000 genomes]
rs2128318	0.89[ASN][1000 genomes]
rs2170529	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs2371576	0.89[ASN][1000 genomes]
rs2860080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4366846	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6710782	0.89[CEU][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs6711080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6723878	1.00[CHB][hapmap];0.83[YRI][hapmap];0.96[ASN][1000 genomes]
rs6726147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7564771	0.84[CEU][hapmap]
rs9283525	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs974968	0.86[CHB][hapmap];0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004573	chr2:213186537-213365252	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv875811	chr2:213200920-213347104	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs985995	MAP2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213335200-213342400	Weak transcription	Fetal Heart	heart

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