Variant report

Variant	rs13404435
Chromosome Location	chr2:67302208-67302209
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	chr2:67300874..67302593-chr2:67306328..67309313,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10180944	0.92[ASN][1000 genomes]
rs17032937	0.92[ASN][1000 genomes]
rs17032952	0.92[ASN][1000 genomes]
rs17032968	0.92[ASN][1000 genomes]
rs17032971	0.92[ASN][1000 genomes]
rs17032991	0.92[ASN][1000 genomes]
rs17033005	0.92[ASN][1000 genomes]
rs17033035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17033037	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17033040	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17033053	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3770658	0.92[ASN][1000 genomes]
rs4671771	0.90[EUR][1000 genomes]
rs55850737	0.92[ASN][1000 genomes]
rs57035035	0.92[ASN][1000 genomes]
rs58926892	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61400784	0.89[ASN][1000 genomes]
rs61616061	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6546276	0.89[ASN][1000 genomes]
rs6546277	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6546281	0.93[ASN][1000 genomes]
rs6722059	0.87[ASN][1000 genomes]
rs6751541	0.92[ASN][1000 genomes]
rs72890017	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72890019	0.92[ASN][1000 genomes]
rs72890026	0.92[ASN][1000 genomes]
rs72890028	0.92[ASN][1000 genomes]
rs72890031	0.92[ASN][1000 genomes]
rs72890032	0.92[ASN][1000 genomes]
rs72890033	0.92[ASN][1000 genomes]
rs72890036	0.92[ASN][1000 genomes]
rs72890038	0.92[ASN][1000 genomes]
rs72890041	0.92[ASN][1000 genomes]
rs73937650	0.87[ASN][1000 genomes]
rs7566710	0.92[ASN][1000 genomes]
rs976794	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2756926	chr2:67266707-67337017	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759058	chr2:67266707-67465662	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv34381	chr2:67273120-67316250	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2757805	chr2:67287279-67465662	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv428397	chr2:67287279-67465662	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13404435	TGFA	cis	parietal	SCAN
rs13404435	C2orf86	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67300200-67303600	Enhancers	Colon Smooth Muscle	Colon
2	chr2:67301600-67303800	Enhancers	Rectal Smooth Muscle	rectum
3	chr2:67302200-67302600	Weak transcription	Fetal Lung	lung

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