Variant report

Variant	rs6968500
Chromosome Location	chr7:124431722-124431723
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124430897..124433270-chr7:124438341..124440409,2	K562	blood:

Extended variants
information (count: 204 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:202)

rs_ID	r²[population]
rs10085793	0.96[ASN][1000 genomes]
rs10085867	0.96[ASN][1000 genomes]
rs10085888	0.96[ASN][1000 genomes]
rs10156168	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10223980	0.93[ASN][1000 genomes]
rs10224946	0.94[ASN][1000 genomes]
rs10225140	0.92[ASN][1000 genomes]
rs10227821	0.97[ASN][1000 genomes]
rs10228376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10228682	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10229152	0.93[ASN][1000 genomes]
rs10233306	0.93[ASN][1000 genomes]
rs10233589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.97[ASN][1000 genomes]
rs10236403	0.92[ASN][1000 genomes]
rs10236782	0.95[ASN][1000 genomes]
rs10237080	0.91[ASN][1000 genomes]
rs10243490	0.90[ASN][1000 genomes]
rs10243736	0.97[ASN][1000 genomes]
rs10245872	0.93[ASN][1000 genomes]
rs10246553	0.88[ASN][1000 genomes]
rs10250202	0.97[ASN][1000 genomes]
rs10250911	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10252039	0.92[ASN][1000 genomes]
rs10255209	0.93[ASN][1000 genomes]
rs10257255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10260227	0.97[ASN][1000 genomes]
rs10260710	0.97[ASN][1000 genomes]
rs10261610	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10263573	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs10269011	0.94[ASN][1000 genomes]
rs10270784	0.97[ASN][1000 genomes]
rs10271687	0.93[ASN][1000 genomes]
rs10272583	0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10954045	0.93[ASN][1000 genomes]
rs10954048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10954049	0.93[ASN][1000 genomes]
rs11975788	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11978628	0.97[ASN][1000 genomes]
rs11978656	0.97[ASN][1000 genomes]
rs11979724	0.97[ASN][1000 genomes]
rs11980925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11983251	0.97[ASN][1000 genomes]
rs12112909	0.81[CEU][hapmap]
rs12154816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12155120	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12530981	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12533560	0.93[ASN][1000 genomes]
rs12536017	0.93[ASN][1000 genomes]
rs12536575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12537161	0.93[ASN][1000 genomes]
rs12538083	0.93[ASN][1000 genomes]
rs12538333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12540168	0.89[ASN][1000 genomes]
rs12666427	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs12673697	0.92[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs13228116	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1468377	0.97[ASN][1000 genomes]
rs1468378	0.97[ASN][1000 genomes]
rs1481341	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1557969	0.87[ASN][1000 genomes]
rs16871295	0.96[ASN][1000 genomes]
rs17147494	0.97[ASN][1000 genomes]
rs17147496	0.97[ASN][1000 genomes]
rs17147583	0.95[ASN][1000 genomes]
rs1904975	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2040926	0.97[ASN][1000 genomes]
rs2054585	0.93[ASN][1000 genomes]
rs2079368	0.96[ASN][1000 genomes]
rs2079369	0.90[ASN][1000 genomes]
rs2107936	0.94[ASN][1000 genomes]
rs2219954	0.83[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2267707	0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2267708	0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2286173	0.97[ASN][1000 genomes]
rs2286174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2299902	0.92[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs2299903	0.85[ASN][1000 genomes]
rs2301930	0.97[ASN][1000 genomes]
rs2402749	0.92[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2402753	0.97[ASN][1000 genomes]
rs2402755	0.97[ASN][1000 genomes]
rs28409696	0.93[ASN][1000 genomes]
rs2896360	0.96[ASN][1000 genomes]
rs2896361	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3213667	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs33935352	0.85[ASN][1000 genomes]
rs34014883	0.96[ASN][1000 genomes]
rs34204767	0.84[ASN][1000 genomes]
rs34395250	0.92[ASN][1000 genomes]
rs34600520	0.93[ASN][1000 genomes]
rs34618371	0.91[ASN][1000 genomes]
rs35184624	0.97[ASN][1000 genomes]
rs35332300	0.97[ASN][1000 genomes]
rs35630355	0.93[ASN][1000 genomes]
rs3807544	0.85[ASN][1000 genomes]
rs3815221	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3919896	0.93[ASN][1000 genomes]
rs4146110	0.93[ASN][1000 genomes]
rs4279518	0.93[ASN][1000 genomes]
rs4283967	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4311608	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4319000	0.93[ASN][1000 genomes]
rs4360235	0.93[ASN][1000 genomes]
rs4377885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4379394	0.93[ASN][1000 genomes]
rs4383910	0.93[ASN][1000 genomes]
rs4422720	0.93[ASN][1000 genomes]
rs4463363	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4467880	0.85[ASN][1000 genomes]
rs4501523	0.93[ASN][1000 genomes]
rs4529402	0.90[ASN][1000 genomes]
rs4552839	0.93[ASN][1000 genomes]
rs4568548	0.91[ASN][1000 genomes]
rs4584095	0.93[ASN][1000 genomes]
rs4728009	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4728010	0.96[ASN][1000 genomes]
rs4728011	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4728012	0.96[ASN][1000 genomes]
rs4731207	0.92[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs4731208	0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs4731216	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4731217	0.96[ASN][1000 genomes]
rs4731218	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4731221	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4731222	0.96[ASN][1000 genomes]
rs4731223	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.96[ASN][1000 genomes]
rs4731224	0.93[ASN][1000 genomes]
rs56321660	0.86[ASN][1000 genomes]
rs57458159	0.93[ASN][1000 genomes]
rs62478914	0.97[ASN][1000 genomes]
rs6415362	0.93[ASN][1000 genomes]
rs6466948	0.97[ASN][1000 genomes]
rs6466949	0.97[ASN][1000 genomes]
rs6466950	0.97[ASN][1000 genomes]
rs6466952	0.93[ASN][1000 genomes]
rs6466953	0.90[ASN][1000 genomes]
rs6466954	0.93[ASN][1000 genomes]
rs6466955	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6466956	0.93[ASN][1000 genomes]
rs6466960	0.84[ASN][1000 genomes]
rs6466961	0.86[ASN][1000 genomes]
rs6466962	0.90[ASN][1000 genomes]
rs6945104	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6948181	0.88[ASN][1000 genomes]
rs6948345	0.94[ASN][1000 genomes]
rs6949341	0.93[ASN][1000 genomes]
rs6953168	0.93[ASN][1000 genomes]
rs6956499	0.93[ASN][1000 genomes]
rs6956638	0.93[ASN][1000 genomes]
rs6959244	0.92[ASN][1000 genomes]
rs6959491	0.92[ASN][1000 genomes]
rs6959665	0.92[ASN][1000 genomes]
rs6960027	0.92[ASN][1000 genomes]
rs6960139	0.87[ASN][1000 genomes]
rs6960504	0.93[ASN][1000 genomes]
rs6960683	0.93[ASN][1000 genomes]
rs6961292	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6963177	0.97[ASN][1000 genomes]
rs6966415	0.94[ASN][1000 genomes]
rs6967988	0.88[ASN][1000 genomes]
rs6968187	0.93[ASN][1000 genomes]
rs6968573	0.87[ASN][1000 genomes]
rs6968693	0.93[ASN][1000 genomes]
rs6973134	0.93[ASN][1000 genomes]
rs6973447	0.87[ASN][1000 genomes]
rs6973812	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6980448	0.92[ASN][1000 genomes]
rs71576215	0.97[ASN][1000 genomes]
rs720615	0.97[ASN][1000 genomes]
rs720616	0.97[ASN][1000 genomes]
rs727506	0.92[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7357296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7456392	0.90[ASN][1000 genomes]
rs7778544	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7778956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[ASN][1000 genomes]
rs7780453	0.81[ASN][1000 genomes]
rs7781148	0.97[ASN][1000 genomes]
rs7782031	0.92[ASN][1000 genomes]
rs7782327	0.92[ASN][1000 genomes]
rs7782340	0.93[ASN][1000 genomes]
rs7782354	0.93[ASN][1000 genomes]
rs7782525	0.93[ASN][1000 genomes]
rs7783781	0.97[ASN][1000 genomes]
rs7789859	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7792883	0.97[ASN][1000 genomes]
rs7793258	0.97[ASN][1000 genomes]
rs7793441	0.93[ASN][1000 genomes]
rs7794631	0.93[ASN][1000 genomes]
rs7794710	0.93[ASN][1000 genomes]
rs7795492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7796015	0.93[ASN][1000 genomes]
rs7796150	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs7799747	0.91[ASN][1000 genomes]
rs7799938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7801140	0.93[ASN][1000 genomes]
rs7807707	0.95[ASN][1000 genomes]
rs7808203	0.93[ASN][1000 genomes]
rs7811607	0.97[ASN][1000 genomes]
rs7811608	0.97[ASN][1000 genomes]
rs886704	0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs962863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9886177	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6968500	RP11-3B12.1	cis	Artery Tibial	GTEx
rs6968500	RP11-3B12.1	cis	Artery Aorta	GTEx
rs6968500	RP11-3B12.4	cis	Artery Tibial	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124428400-124431800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:124430600-124432400	Enhancers	Placenta	Placenta
3	chr7:124430800-124431800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:124431000-124433000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:124431200-124431800	Weak transcription	Aorta	Aorta
6	chr7:124431200-124432000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:124431600-124432200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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