Variant report

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10271370	0.90[CEU][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs10485911	1.00[CHD][hapmap]
rs11773635	0.90[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13244963	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1496767	1.00[CHD][hapmap]
rs17150961	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs17371672	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17450323	1.00[CHD][hapmap]
rs28626666	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6466259	0.86[EUR][1000 genomes]
rs6968852	0.80[CEU][hapmap]
rs725555	0.85[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7778097	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6466265	PTPN12	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78138400-78161800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:78156800-78160400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:78157000-78172000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:78157600-78160400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:78158000-78160400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:78158000-78160400	Enhancers	NH-A	brain
7	chr7:78158600-78160400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr7:78158600-78160600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:78158800-78160400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:78158800-78169200	Weak transcription	Aorta	Aorta
11	chr7:78158800-78172000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:78158800-78191000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:78159400-78160400	Enhancers	Brain Cingulate Gyrus	brain
14	chr7:78159600-78160400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:78159600-78160400	Enhancers	Brain Angular Gyrus	brain
16	chr7:78160000-78160400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:78160000-78160400	Enhancers	Brain Anterior Caudate	brain
18	chr7:78160000-78160400	Enhancers	Brain Hippocampus Middle	brain
19	chr7:78160000-78161600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:78160200-78160400	Enhancers	Brain Substantia Nigra	brain

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