Variant report

Variant	rs9646718
Chromosome Location	chr2:234830440-234830441
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	2:234825998-234827518..2:234830063-234832735	GM12878	blood:

Variant related genes	Relation type
ENSG00000144481	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1004478	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10490010	0.93[CEU][hapmap]
rs10803665	0.93[CEU][hapmap]
rs10803666	0.93[CEU][hapmap]
rs10929317	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11562941	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11562954	0.93[CEU][hapmap]
rs11562979	0.81[ASN][1000 genomes]
rs11563228	0.84[ASN][1000 genomes]
rs12470426	0.82[CHB][hapmap]
rs12472151	0.82[CHB][hapmap]
rs12473889	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs12988953	0.93[EUR][1000 genomes]
rs13020968	0.82[CHB][hapmap]
rs13028228	0.93[CEU][hapmap]
rs13390819	0.84[ASN][1000 genomes]
rs13403318	0.84[ASN][1000 genomes]
rs13406453	0.84[ASN][1000 genomes]
rs13406457	0.81[ASN][1000 genomes]
rs13410024	0.84[ASN][1000 genomes]
rs13410032	0.84[ASN][1000 genomes]
rs17862907	0.84[ASN][1000 genomes]
rs17862920	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17862921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17863825	0.84[ASN][1000 genomes]
rs17863826	0.84[ASN][1000 genomes]
rs17863838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17863841	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs17863842	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs17864729	0.84[ASN][1000 genomes]
rs17864738	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17864741	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs17868368	0.84[ASN][1000 genomes]
rs186159	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs188492	0.87[ASN][1000 genomes]
rs213541	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs213543	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs213544	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs213550	0.87[ASN][1000 genomes]
rs2173746	0.84[ASN][1000 genomes]
rs2173747	0.84[ASN][1000 genomes]
rs2530796	0.84[ASN][1000 genomes]
rs2650888	0.84[ASN][1000 genomes]
rs35168608	0.82[EUR][1000 genomes]
rs494812	0.84[ASN][1000 genomes]
rs498680	0.84[ASN][1000 genomes]
rs498696	0.84[ASN][1000 genomes]
rs499703	0.84[ASN][1000 genomes]
rs501650	0.84[ASN][1000 genomes]
rs502321	0.84[ASN][1000 genomes]
rs506632	0.84[ASN][1000 genomes]
rs511387	0.87[ASN][1000 genomes]
rs531771	0.84[ASN][1000 genomes]
rs566985	0.87[ASN][1000 genomes]
rs568906	0.87[ASN][1000 genomes]
rs570800	0.87[ASN][1000 genomes]
rs575194	0.84[ASN][1000 genomes]
rs577734	0.84[ASN][1000 genomes]
rs577782	0.84[ASN][1000 genomes]
rs577820	0.84[ASN][1000 genomes]
rs579327	0.84[ASN][1000 genomes]
rs581377	0.84[ASN][1000 genomes]
rs596509	0.84[ASN][1000 genomes]
rs611131	0.84[ASN][1000 genomes]
rs611169	0.84[ASN][1000 genomes]
rs611563	0.84[ASN][1000 genomes]
rs622954	0.81[ASN][1000 genomes]
rs625151	0.84[ASN][1000 genomes]
rs628138	0.84[ASN][1000 genomes]
rs657658	0.84[ASN][1000 genomes]
rs658054	0.84[ASN][1000 genomes]
rs658607	0.84[ASN][1000 genomes]
rs6717978	0.95[EUR][1000 genomes]
rs6717992	0.95[EUR][1000 genomes]
rs672831	0.84[ASN][1000 genomes]
rs6741751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs688677	0.84[ASN][1000 genomes]
rs7558436	0.93[CEU][hapmap]
rs7562952	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs7562971	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs7577262	1.00[CEU][hapmap];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234827600-234834000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:234827800-234833600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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