Variant report

Variant	rs254536
Chromosome Location	chr7:116970582-116970583
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	7:115890993-115892266..7:116964911-116973650	H1-hESC	embryonic stem cell:	embryo
2	chr7:116950227..116952723-chr7:116968350..116970678,2	K562	blood:
3	7:115847372-115857098..7:116964911-116973650	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10249651	1.00[CEU][hapmap];0.81[CHB][hapmap];0.96[EUR][1000 genomes]
rs10255917	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10264075	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10278130	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1029396	0.86[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs10487365	0.81[CHB][hapmap]
rs10487368	0.81[CHB][hapmap]
rs10953841	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10953843	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs10953845	0.98[EUR][1000 genomes]
rs10953846	0.98[EUR][1000 genomes]
rs11769166	0.86[CHB][hapmap]
rs12333572	0.82[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs12535986	0.86[CHB][hapmap]
rs12537601	0.83[ASN][1000 genomes]
rs12538252	0.81[CHB][hapmap]
rs12673260	0.82[CHB][hapmap]
rs13245795	0.85[EUR][1000 genomes]
rs1557630	0.81[CHB][hapmap]
rs17347210	0.93[YRI][hapmap]
rs2051714	0.93[ASN][1000 genomes]
rs2051718	0.86[CHB][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2078967	0.86[EUR][1000 genomes]
rs2157946	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs2188159	0.82[CHB][hapmap]
rs2188555	0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs2237721	0.81[CHB][hapmap]
rs2237722	0.82[CHB][hapmap]
rs2237723	0.81[CHB][hapmap]
rs2237724	0.80[CHB][hapmap]
rs2239956	0.82[CHB][hapmap]
rs2239957	0.97[ASN][1000 genomes]
rs2283054	0.91[CHB][hapmap]
rs2283055	0.80[CHB][hapmap]
rs2283056	0.82[CHB][hapmap]
rs2285544	0.86[CHB][hapmap]
rs2285545	0.86[CHB][hapmap]
rs254537	0.82[YRI][hapmap]
rs2896224	0.86[EUR][1000 genomes]
rs3757802	0.82[CHB][hapmap]
rs3808186	0.81[CHB][hapmap]
rs3926643	0.82[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs39312	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs39315	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs39317	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs39324	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4148682	0.86[CHB][hapmap]
rs4148686	0.82[CHB][hapmap]
rs4148687	0.82[CHB][hapmap]
rs4148688	0.81[CHB][hapmap]
rs4148689	0.81[CHB][hapmap]
rs4148690	0.82[CHB][hapmap]
rs4148691	0.82[CHB][hapmap]
rs4148692	0.82[CHB][hapmap]
rs43025	0.81[CHB][hapmap]
rs43028	0.82[CHB][hapmap]
rs43029	0.82[CHB][hapmap]
rs43032	0.82[CHB][hapmap]
rs43034	0.82[CHB][hapmap]
rs43036	0.82[CHB][hapmap]
rs4571678	0.87[YRI][hapmap]
rs4727849	0.88[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs4727851	0.81[CHB][hapmap]
rs4730778	0.86[CHB][hapmap]
rs4730786	0.82[CHB][hapmap]
rs6466611	0.85[CEU][hapmap];0.86[CHB][hapmap]
rs6466613	0.82[CHB][hapmap]
rs6947329	0.86[CHB][hapmap]
rs6957317	0.81[CHB][hapmap]
rs6960356	0.81[CEU][hapmap];0.86[CHB][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6966836	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6966838	0.80[CEU][hapmap];0.91[CHB][hapmap];0.83[EUR][1000 genomes]
rs6972168	0.86[EUR][1000 genomes]
rs6979185	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs713134	0.82[CHB][hapmap]
rs72603594	0.85[ASN][1000 genomes]
rs72603595	0.83[ASN][1000 genomes]
rs7357267	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs739517	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs756665	0.81[CHB][hapmap]
rs7784156	0.86[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs7793127	0.82[CHB][hapmap]
rs7805063	0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs7808424	0.86[CHB][hapmap]
rs7810506	0.86[CHB][hapmap]
rs885993	0.81[CHB][hapmap]
rs9792104	0.82[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs980574	0.82[CHB][hapmap]
rs989727	0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs994996	0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs994997	0.83[EUR][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:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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