Variant report

Variant	rs4831097
Chromosome Location	chr3:116150232-116150233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10513826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11924642	0.82[CHD][hapmap]
rs11928524	0.82[CHD][hapmap]
rs13069948	0.86[CHD][hapmap]
rs13070962	0.81[CHD][hapmap]
rs13092244	0.82[TSI][hapmap]
rs13316464	0.90[CEU][hapmap];0.87[CHD][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap]
rs13323946	0.81[CHD][hapmap]
rs1367770	0.82[CHD][hapmap]
rs1623237	0.82[JPT][hapmap]
rs16824908	0.89[CEU][hapmap];0.87[CHD][hapmap]
rs1731596	0.86[CHD][hapmap]
rs17647091	0.81[CHD][hapmap]
rs1920175	0.90[CEU][hapmap];0.80[JPT][hapmap]
rs41442746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap]
rs4831133	0.86[CHD][hapmap]
rs4831136	0.86[CHD][hapmap]
rs67644980	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6767942	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6777473	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7634137	0.82[CHD][hapmap]
rs7637573	0.86[CHD][hapmap]
rs7638540	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7652923	0.85[CHD][hapmap]
rs9289050	0.86[CHD][hapmap]
rs9838534	0.86[CHD][hapmap]
rs9857124	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9875727	0.89[CEU][hapmap]

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	esv2757886	chr3:116142130-116307542	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759171	chr3:116142130-116307542	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4831097	GTF2E1	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:116143400-116161200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:116143600-116161000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:116144000-116155800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:116144200-116159000	Weak transcription	Brain Angular Gyrus	brain
5	chr3:116144200-116159000	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:116144200-116160400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:116144200-116160400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:116144400-116151800	Weak transcription	Colon Smooth Muscle	Colon

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