Variant report

Variant	rs1379174
Chromosome Location	chr7:50160127-50160128
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50159434..50160127-chr7:50485653..50486534,3	K562	blood:
2	chr7:50153723..50156265-chr7:50158354..50160442,2	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1021139	0.89[CHB][hapmap]
rs10225094	1.00[CHB][hapmap]
rs10229515	1.00[CHB][hapmap]
rs10233698	0.89[CHB][hapmap]
rs10234768	1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10236637	1.00[CHB][hapmap]
rs10245556	1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10251249	0.89[CHB][hapmap]
rs1032990	1.00[CHB][hapmap]
rs11185597	0.89[CHB][hapmap]
rs11185598	0.89[CHB][hapmap]
rs11970999	0.89[CHB][hapmap]
rs11974866	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12540153	0.89[CHB][hapmap]
rs12672757	0.89[CHB][hapmap]
rs12691361	0.89[CHB][hapmap]
rs13222252	0.88[CHB][hapmap]
rs1351688	0.89[CHB][hapmap]
rs1351691	0.89[CHB][hapmap]
rs1355037	0.89[CHB][hapmap]
rs1379175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379179	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1379180	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1379181	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1396277	1.00[CHB][hapmap]
rs1456905	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1456907	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1466292	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1472886	1.00[CHB][hapmap]
rs1476240	0.89[CHB][hapmap]
rs1476241	0.89[CHB][hapmap]
rs1483076	0.89[CHB][hapmap]
rs1483077	0.89[CHB][hapmap]
rs1483083	0.89[CHB][hapmap]
rs1483084	0.89[CHB][hapmap]
rs1483086	0.89[CHB][hapmap]
rs1483087	0.89[CHB][hapmap]
rs1483088	0.89[CHB][hapmap]
rs1483089	0.89[CHB][hapmap]
rs1483090	0.88[CHB][hapmap]
rs1483091	0.89[CHB][hapmap]
rs1508412	0.86[AMR][1000 genomes]
rs1567278	1.00[CHB][hapmap]
rs1601032	0.89[CHB][hapmap]
rs1601037	0.89[CHB][hapmap]
rs1905271	1.00[CHB][hapmap]
rs1905272	0.89[CHB][hapmap]
rs1911748	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1911749	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1911750	0.83[AMR][1000 genomes]
rs1911751	1.00[CHB][hapmap]
rs1911754	1.00[CHB][hapmap]
rs1911755	0.88[CHB][hapmap]
rs1911756	1.00[CHB][hapmap]
rs1911757	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1911758	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1911765	0.89[CHB][hapmap]
rs1911767	0.89[CHB][hapmap]
rs2046299	0.89[CHB][hapmap]
rs2046300	0.89[CHB][hapmap]
rs2128658	0.89[CHB][hapmap]
rs2128664	0.89[CHB][hapmap]
rs2168591	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2168592	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2174929	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2202772	0.88[CHB][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2221656	1.00[CHB][hapmap]
rs2221657	1.00[CHB][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247539	0.85[AMR][1000 genomes]
rs2247628	1.00[CHB][hapmap];0.86[AMR][1000 genomes]
rs2365791	0.89[CHB][hapmap]
rs2366023	0.89[CHB][hapmap]
rs2366025	0.93[ASN][1000 genomes]
rs2366027	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2366028	1.00[CHB][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2366029	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2886464	0.89[CHB][hapmap]
rs3757391	1.00[CHB][hapmap]
rs3807323	1.00[CHB][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3807324	1.00[CHB][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823541	1.00[CHB][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4019793	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4244228	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4917005	1.00[CHB][hapmap]
rs4917010	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4917103	0.89[CHB][hapmap]
rs4917110	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4917111	1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4917112	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583407	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs6583423	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583426	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6583431	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs6583432	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6948934	0.89[CHB][hapmap]
rs6953525	0.89[CHB][hapmap]
rs6956098	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969018	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6973828	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6979166	0.89[CHB][hapmap]
rs764250	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7778784	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs7785151	0.89[CHB][hapmap]
rs7788033	0.89[CHB][hapmap]
rs7788589	0.88[CHB][hapmap]
rs7788998	1.00[CHB][hapmap]
rs7792222	0.89[CHB][hapmap]
rs7793883	1.00[CHB][hapmap]
rs7805203	0.89[CHB][hapmap]
rs897695	1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs897696	1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs959678	0.89[CHB][hapmap]
rs988393	0.89[CHB][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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50159600-50161600	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:50159800-50161600	Enhancers	Primary B cells from cord blood	blood
3	chr7:50160000-50161200	Enhancers	GM12878-XiMat	blood

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