Variant report

Variant	rs939913
Chromosome Location	chr7:3556057-3556058
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	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10224159	0.81[CHB][hapmap]
rs10227320	0.82[CHB][hapmap];0.91[MEX][hapmap]
rs10232765	0.81[CHB][hapmap]
rs10234480	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10235815	0.81[CHB][hapmap]
rs10242223	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.81[MEX][hapmap]
rs10262464	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs10270365	0.90[CHB][hapmap]
rs10277545	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs10278205	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs10281401	0.81[CHB][hapmap]
rs10454314	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs10499327	0.85[CHB][hapmap];0.83[CHD][hapmap]
rs10499335	0.86[CHB][hapmap]
rs10951245	0.82[CHB][hapmap];0.91[MEX][hapmap]
rs11761186	0.82[CHB][hapmap]
rs11764387	0.82[CHB][hapmap]
rs11766702	0.86[CHD][hapmap]
rs11770681	0.83[CHD][hapmap]
rs11771359	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs11975299	0.82[EUR][1000 genomes]
rs11977306	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs11981092	0.82[CHB][hapmap]
rs12667184	0.82[CHB][hapmap]
rs12700827	0.82[CHB][hapmap]
rs1357309	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs1357310	0.81[CHB][hapmap]
rs1403159	0.85[CHB][hapmap];0.83[CHD][hapmap]
rs1464534	0.83[CHD][hapmap]
rs1554497	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs1554498	0.82[CHB][hapmap]
rs1554502	0.82[CHB][hapmap]
rs1915981	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs1915982	0.81[CHB][hapmap]
rs1915983	0.87[ASW][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap]
rs1922018	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.80[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2090940	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2140114	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs2141823	0.89[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.91[MEX][hapmap];0.81[ASN][1000 genomes]
rs2178627	0.86[CHB][hapmap]
rs2222868	0.82[CHB][hapmap]
rs2686852	0.95[CHB][hapmap];0.80[JPT][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2705600	0.83[ASN][1000 genomes]
rs2705608	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.99[ASN][1000 genomes]
rs2705613	0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.80[JPT][hapmap];0.90[MEX][hapmap];0.89[ASN][1000 genomes]
rs2879918	0.81[CEU][hapmap];0.87[CHB][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4236326	0.82[CHB][hapmap]
rs4286835	0.82[CHB][hapmap]
rs4719943	0.81[CHD][hapmap]
rs4722735	0.82[CHB][hapmap]
rs4722830	0.86[CHD][hapmap]
rs4722850	0.81[CHB][hapmap]
rs6462040	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs6462068	0.82[CHB][hapmap]
rs6462071	0.86[ASW][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap]
rs6946678	0.82[CHB][hapmap]
rs6967281	0.86[CHD][hapmap]
rs6968665	0.82[CHB][hapmap]
rs6978391	0.82[CHB][hapmap]
rs7776559	0.81[CHD][hapmap]
rs7779688	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs7784497	0.81[CHB][hapmap]
rs7794534	0.82[CHB][hapmap]
rs7794763	0.81[GIH][hapmap];0.82[MEX][hapmap]
rs7798141	0.81[CHB][hapmap]
rs7800089	0.86[CHD][hapmap]
rs7802106	0.85[CHD][hapmap]
rs7807065	0.89[CHB][hapmap]
rs7811384	0.81[CHB][hapmap];0.86[MEX][hapmap];0.80[TSI][hapmap]
rs939912	0.82[CHB][hapmap]
rs9791974	0.85[CEU][hapmap];0.91[MEX][hapmap]
rs9969296	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:28 , 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	esv2758100	chr7:3286625-3560229	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759500	chr7:3286625-3560229	Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	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
6	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
7	esv2764026	chr7:3365002-3618361	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1015296	chr7:3381813-3560401	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	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
10	nsv528715	chr7:3451251-3598581	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv605902	chr7:3464896-3598581	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv869723	chr7:3482682-3566293	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv464270	chr7:3490865-3581357	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv605904	chr7:3490865-3581357	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1027426	chr7:3506255-3556395	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv538672	chr7:3506255-3556395	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1034716	chr7:3512406-3616155	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv887334	chr7:3531275-3635105	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv1020389	chr7:3539750-3561312	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv538674	chr7:3539750-3561312	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv1023888	chr7:3539750-3638242	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	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
23	nsv1030363	chr7:3541046-3577665	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv1029264	chr7:3549193-3622532	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv1845822	chr7:3550368-3560266	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv1032031	chr7:3554760-3609584	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv538675	chr7:3554760-3609584	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv3434922	chr7:3555998-3556381	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs939913	RNF216L	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3549400-3577000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3550800-3557200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3551600-3557000	Weak transcription	Pancreas	Pancrea
4	chr7:3554800-3563000	Weak transcription	Aorta	Aorta
5	chr7:3555800-3556200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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