Variant report

Variant	rs2237626
Chromosome Location	chr7:103177313-103177314
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103172799..103178070-chr7:103178210..103181701,6	K562	blood:

Variant related genes	Relation type
ENSG00000189056	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1008126	0.82[CEU][hapmap];0.84[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12536415	0.86[CEU][hapmap]
rs2075040	0.86[CEU][hapmap]
rs2237627	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2528862	0.83[CEU][hapmap]
rs2535760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2535762	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2711838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs362706	0.90[CEU][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs362707	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs362708	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs362709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs362710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs362711	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs362712	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs362714	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs362715	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs362717	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs362736	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs362737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs362738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs362739	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs362742	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs362743	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4729921	0.93[ASN][1000 genomes]
rs4729922	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv888923	chr7:103143117-103199719	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2237626	SLC26A5	cis	cerebellum	SCAN
rs2237626	MOGAT3	cis	cerebellum	SCAN
rs2237626	CUX1	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103158000-103198600	Weak transcription	Liver	Liver
2	chr7:103165000-103179200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:103168400-103181400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:103170200-103180000	Weak transcription	K562	blood
5	chr7:103174200-103179400	Weak transcription	Brain Angular Gyrus	brain
6	chr7:103175200-103180600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:103176000-103177600	Weak transcription	HepG2	liver
8	chr7:103176800-103177400	Enhancers	Brain Cingulate Gyrus	brain
9	chr7:103177000-103177400	Flanking Active TSS	Brain Substantia Nigra	brain
10	chr7:103177200-103177400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:103177200-103177800	Weak transcription	Brain Anterior Caudate	brain
12	chr7:103177200-103178000	Enhancers	Brain Hippocampus Middle	brain
13	chr7:103177200-103178000	Enhancers	Brain Inferior Temporal Lobe	brain

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