Variant report

Variant	rs916727
Chromosome Location	chr7:116988685-116988686
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	7:115890993-115892266..7:116987793-116989154	H1-hESC	embryonic stem cell:	embryo
2	7:115847372-115857098..7:116987793-116989154	GM12878	blood:

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10230259	0.91[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237017	1.00[ASN][1000 genomes]
rs10240521	1.00[ASN][1000 genomes]
rs10242827	0.92[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1025342	1.00[ASN][1000 genomes]
rs10255092	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258791	0.92[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262610	1.00[ASN][1000 genomes]
rs10264450	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264892	1.00[ASN][1000 genomes]
rs10266649	1.00[ASN][1000 genomes]
rs10278953	0.96[CEU][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487364	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12536356	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139821	1.00[ASN][1000 genomes]
rs17450482	1.00[ASN][1000 genomes]
rs17544734	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17545644	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17547485	1.00[ASN][1000 genomes]
rs177071	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800503	1.00[ASN][1000 genomes]
rs213972	1.00[ASN][1000 genomes]
rs2518872	1.00[ASN][1000 genomes]
rs254537	1.00[CEU][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs254538	0.92[CEU][hapmap];1.00[CHD][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28449716	1.00[ASN][1000 genomes]
rs28517401	1.00[ASN][1000 genomes]
rs34268361	1.00[ASN][1000 genomes]
rs34420782	1.00[ASN][1000 genomes]
rs34654194	1.00[ASN][1000 genomes]
rs35003065	1.00[ASN][1000 genomes]
rs35130797	1.00[ASN][1000 genomes]
rs35342599	1.00[ASN][1000 genomes]
rs35415299	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35615558	1.00[ASN][1000 genomes]
rs35715578	1.00[ASN][1000 genomes]
rs35777371	1.00[ASN][1000 genomes]
rs35820454	1.00[ASN][1000 genomes]
rs35987553	1.00[ASN][1000 genomes]
rs36082161	1.00[ASN][1000 genomes]
rs39308	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39309	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39310	0.96[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39311	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39314	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39315	0.83[YRI][hapmap]
rs39320	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39321	0.96[CEU][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39322	0.92[CEU][hapmap];0.80[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39325	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148717	1.00[ASN][1000 genomes]
rs4285411	1.00[CEU][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466610	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943074	1.00[ASN][1000 genomes]
rs6943509	1.00[ASN][1000 genomes]
rs6961545	1.00[ASN][1000 genomes]
rs6963669	1.00[CEU][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965682	1.00[ASN][1000 genomes]
rs73480763	1.00[ASN][1000 genomes]
rs7779160	0.96[EUR][1000 genomes]
rs7795896	1.00[CHD][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799504	1.00[ASN][1000 genomes]
rs7802924	1.00[ASN][1000 genomes]
rs7809485	1.00[ASN][1000 genomes]
rs7812185	1.00[ASN][1000 genomes]
rs916728	1.00[CEU][hapmap];1.00[CHD][hapmap];0.81[MEX][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886209	0.96[CEU][hapmap];1.00[CHD][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608256	chr7:116928371-117040117	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116988000-116989600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:116988600-116989800	Enhancers	GM12878-XiMat	blood
3	chr7:116988600-116990000	Enhancers	Brain Substantia Nigra	brain
4	chr7:116988600-116990400	Enhancers	Brain Inferior Temporal Lobe	brain

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