Variant report

Variant	rs13397975
Chromosome Location	chr2:35305420-35305421
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10178895	0.93[EUR][1000 genomes]
rs10179188	0.93[EUR][1000 genomes]
rs10192673	0.87[AFR][1000 genomes]
rs10202198	0.93[EUR][1000 genomes]
rs10495831	1.00[CHB][hapmap]
rs12471763	0.89[EUR][1000 genomes]
rs12476045	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619714	0.93[EUR][1000 genomes]
rs13032649	0.89[EUR][1000 genomes]
rs13395266	0.86[ASN][1000 genomes]
rs13397641	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401247	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17452901	1.00[CHB][hapmap]
rs1922361	0.89[EUR][1000 genomes]
rs2178676	0.89[EUR][1000 genomes]
rs2178677	0.90[EUR][1000 genomes]
rs2371503	0.89[EUR][1000 genomes]
rs4670430	0.93[EUR][1000 genomes]
rs4670431	0.93[EUR][1000 genomes]
rs4670432	0.93[EUR][1000 genomes]
rs4670434	0.89[EUR][1000 genomes]
rs4670435	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873821	chr2:34738616-35416075	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1010722	chr2:35072575-35950219	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833736	chr2:35131118-35321302	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv873835	chr2:35177181-35329317	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1006822	chr2:35191115-35415890	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv873836	chr2:35225041-35347774	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2757790	chr2:35237743-35404984	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2759037	chr2:35237743-35404984	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1011753	chr2:35247663-35377840	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv581388	chr2:35277976-35329317	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1001841	chr2:35286152-35483863	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1002840	chr2:35287783-35535329	Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv581389	chr2:35289330-35558345	Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv873837	chr2:35304102-35364087	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13397975	FAM98A	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35305000-35307600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:35305200-35305600	Enhancers	NHDF-Ad	bronchial
3	chr2:35305200-35305800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:35305200-35306600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:35305400-35305800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:35305400-35306000	Active TSS	A549	lung

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