Variant report

Variant	rs4916997
Chromosome Location	chr7:49921114-49921115
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	chr7:49916090..49917922-chr7:49920851..49923252,2	K562	blood:

Extended variants
information (count: 140 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs1021139	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10229515	0.94[CEU][hapmap];0.90[CHB][hapmap]
rs10233698	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10251249	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11185592	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185593	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185597	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs11185598	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11970999	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11971651	0.92[YRI][hapmap]
rs11978548	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12532827	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12540153	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12672757	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12691361	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12718225	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13222252	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13229373	0.92[YRI][hapmap]
rs13239786	0.96[YRI][hapmap]
rs13245999	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1351688	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1351691	1.00[CHB][hapmap]
rs1351694	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355037	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1384635	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1384636	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1384637	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396277	0.94[CEU][hapmap];0.90[CHB][hapmap]
rs1396280	0.92[YRI][hapmap]
rs1472886	0.90[CHB][hapmap]
rs1476240	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1476241	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1483071	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1483072	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483074	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1483076	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs1483077	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1483083	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs1483084	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1483086	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1483087	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1483088	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs1483089	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs1483090	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs1483091	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1483094	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1564740	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1567269	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1601032	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1601035	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs1601037	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1872137	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1905271	0.90[CHB][hapmap]
rs1905272	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1911751	0.90[CHB][hapmap]
rs1911754	0.90[CHB][hapmap]
rs1911765	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1911767	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs1983159	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1983162	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2046299	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2046300	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2086696	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2128658	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2128664	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs2170787	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220065	0.91[YRI][hapmap]
rs2221657	0.90[CHB][hapmap]
rs2365784	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2365791	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2366023	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2366028	0.88[CHB][hapmap]
rs2886462	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2886464	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35600904	0.83[AMR][1000 genomes]
rs3778764	0.92[YRI][hapmap]
rs3850669	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4451253	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916995	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4916998	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4917005	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4917094	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4917095	0.90[ASN][1000 genomes]
rs4917103	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4917111	0.90[CHB][hapmap]
rs495813	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs528279	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs539930	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544853	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55947532	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs598871	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs623107	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629285	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6583394	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6583395	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6583396	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583397	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583407	0.90[CHB][hapmap]
rs6583408	0.91[YRI][hapmap]
rs6583409	0.91[YRI][hapmap]
rs690842	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs691194	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs691413	0.83[EUR][1000 genomes]
rs691458	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs691636	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs692039	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs692201	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692667	0.83[EUR][1000 genomes]
rs6948934	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6952121	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6953525	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6953702	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6957719	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963083	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6966640	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6977361	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979166	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs726383	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs769922	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs769927	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7779095	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785151	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs7788033	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs7788589	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7788609	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7788998	0.88[CHB][hapmap]
rs7792222	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs7793883	0.94[CEU][hapmap];0.90[CHB][hapmap]
rs7797267	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7798067	0.92[YRI][hapmap]
rs7802037	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7805203	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7809987	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs959678	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs985489	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs988393	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:49913200-49923600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:49921000-49922600	Weak transcription	Left Ventricle	heart

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