Variant report

Variant	rs616827
Chromosome Location	chr1:75703209-75703210
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10493564	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10493565	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10493566	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10782715	1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs11162847	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11162849	0.85[ASN][1000 genomes]
rs11162856	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11162870	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11162873	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11162878	1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11162880	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11162888	1.00[JPT][hapmap]
rs12057533	1.00[JPT][hapmap]
rs12061094	1.00[JPT][hapmap]
rs12095168	1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12562352	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs12568950	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12568990	1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1335735	1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1415461	1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1505260	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1505261	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1505262	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1505263	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs17096462	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs17096508	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs1856128	1.00[JPT][hapmap]
rs2135143	0.96[ASN][1000 genomes]
rs2221459	1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34755141	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4369182	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs5006253	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs57612788	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs587346	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs587787	0.85[ASN][1000 genomes]
rs588098	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[ASN][1000 genomes]
rs590301	1.00[JPT][hapmap]
rs596098	0.85[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs598609	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs60198223	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs604745	1.00[JPT][hapmap]
rs611309	0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs619193	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs629615	1.00[JPT][hapmap]
rs635184	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs637660	0.85[ASN][1000 genomes]
rs638302	0.85[ASN][1000 genomes]
rs642923	1.00[JPT][hapmap]
rs647924	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs648363	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs648869	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs649352	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs664593	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs665545	0.83[CHD][hapmap]
rs665575	0.81[YRI][hapmap];0.85[ASN][1000 genomes]
rs666397	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs667887	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs669806	0.85[ASN][1000 genomes]
rs679018	1.00[JPT][hapmap];0.86[YRI][hapmap]
rs681866	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs7544408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7556057	0.92[CHD][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs976048	0.82[AFR][1000 genomes];0.85[ASN][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	nsv871743	chr1:75235082-75714554	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3368999	chr1:75524762-75933220	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs616827	RABGGTB	cis	cerebellum	SCAN
rs616827	ELFN1	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75678800-75705400	Weak transcription	Fetal Brain Female	brain
2	chr1:75699800-75706800	Weak transcription	Fetal Brain Male	brain
3	chr1:75700200-75703400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:75701200-75715800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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