Variant report

Variant	rs2341587
Chromosome Location	chr7:3638547-3638548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10085617	0.81[CEU][hapmap]
rs10225865	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10233162	0.86[CHB][hapmap]
rs10235750	0.94[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs10238142	0.85[ASN][1000 genomes]
rs10256761	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258910	0.85[CHB][hapmap]
rs10263338	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs10276626	0.86[CHB][hapmap]
rs10951254	0.90[CHB][hapmap];0.98[CHD][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs10951264	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs11767639	0.89[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11768433	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11976780	0.86[CHB][hapmap]
rs11979907	0.84[CHB][hapmap]
rs1202229	0.89[GIH][hapmap];0.85[MEX][hapmap]
rs12055947	0.90[CHB][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1548209	0.81[CEU][hapmap]
rs17133605	0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs17133624	0.85[CHB][hapmap]
rs1864842	0.90[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.82[ASN][1000 genomes]
rs1978700	0.88[ASN][1000 genomes]
rs2178626	0.81[CHD][hapmap]
rs2217608	0.81[MEX][hapmap]
rs2341578	0.81[CEU][hapmap]
rs2341583	0.99[ASN][1000 genomes]
rs2614966	0.89[CHB][hapmap];0.89[ASN][1000 genomes]
rs2614967	0.85[MEX][hapmap]
rs2614969	0.87[ASN][1000 genomes]
rs2705598	0.85[JPT][hapmap]
rs2705606	0.91[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.89[MEX][hapmap];0.90[ASN][1000 genomes]
rs3817615	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs4257931	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4476896	0.90[ASN][1000 genomes]
rs4722952	0.83[ASN][1000 genomes]
rs4722980	0.89[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs56090810	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56105954	0.99[ASN][1000 genomes]
rs60514739	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462200	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs6462225	0.81[CHD][hapmap]
rs6959706	0.90[CHB][hapmap]
rs6961396	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs6964347	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs6969256	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs6971989	0.80[CHB][hapmap]
rs7797872	0.87[ASN][1000 genomes]
rs7807210	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs919709	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs957360	0.90[CHB][hapmap];0.86[CHD][hapmap]
rs959894	0.90[ASN][1000 genomes]
rs9654994	0.84[CHD][hapmap]

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	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv916071	chr7:3423207-3697428	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1034298	chr7:3539750-3646251	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv830888	chr7:3577214-3776276	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv1792280	chr7:3592290-3668229	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv605909	chr7:3605340-3638547	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv948390	chr7:3609821-3734421	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1033415	chr7:3616095-3753563	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538680	chr7:3616095-3753563	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1016930	chr7:3627295-3705057	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv530553	chr7:3629504-3736851	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2341587	RNF216L	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3633400-3645800	Weak transcription	Pancreas	Pancrea
2	chr7:3635800-3639400	Enhancers	Primary B cells from peripheral blood	blood
3	chr7:3636400-3655800	Weak transcription	Aorta	Aorta
4	chr7:3637200-3639800	Enhancers	Primary B cells from cord blood	blood
5	chr7:3638000-3639600	Enhancers	Fetal Brain Female	brain
6	chr7:3638200-3639200	Enhancers	Fetal Brain Male	brain
7	chr7:3638200-3639200	Enhancers	Fetal Heart	heart
8	chr7:3638400-3638600	Enhancers	Pancreatic Islets	Pancreatic Islet

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