Variant report

Variant	rs4663987
Chromosome Location	chr2:234839404-234839405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1003756	0.83[GIH][hapmap]
rs1003757	0.83[GIH][hapmap]
rs10170647	0.90[CEU][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10180847	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10203291	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10490013	0.90[CEU][hapmap];0.93[GIH][hapmap];0.81[TSI][hapmap];0.89[EUR][1000 genomes]
rs10519356	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs10803664	0.90[CEU][hapmap]
rs11562975	0.90[CEU][hapmap];0.94[EUR][1000 genomes]
rs11563212	0.90[CEU][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.83[EUR][1000 genomes]
rs11902618	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12466401	0.90[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12476852	0.90[CEU][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17863847	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17863851	0.89[CEU][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs17864744	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108806	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs2108807	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs4497869	0.88[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs4663344	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs4663345	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs4663985	0.82[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap]
rs4663991	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs62192338	0.91[EUR][1000 genomes]
rs6712540	0.90[CEU][hapmap]
rs735551	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs735552	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737635	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7569987	0.90[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7570755	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7577157	0.90[CEU][hapmap];0.94[GIH][hapmap];0.87[EUR][1000 genomes]
rs7583713	0.85[CHD][hapmap]
rs7595960	0.90[CEU][hapmap];0.91[GIH][hapmap];0.81[TSI][hapmap];0.86[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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234838400-234839800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:234838400-234841600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:234838600-234841000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:234839200-234841000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:234839400-234839800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:234839400-234840800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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