Variant report

Variant	rs722677
Chromosome Location	chr5:42748289-42748290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42741787..42743927-chr5:42747329..42750299,3	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs1035516	0.81[ASN][1000 genomes]
rs1046068	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10462041	0.88[ASN][1000 genomes]
rs1074263	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10941585	0.96[ASN][1000 genomes]
rs10941586	0.98[ASN][1000 genomes]
rs10941587	0.88[ASN][1000 genomes]
rs11952526	0.82[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs11953691	0.97[ASN][1000 genomes]
rs11957181	0.98[ASN][1000 genomes]
rs12054838	0.89[ASN][1000 genomes]
rs12055087	0.96[ASN][1000 genomes]
rs12055266	0.88[ASN][1000 genomes]
rs12187466	0.98[ASN][1000 genomes]
rs12187996	0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs12516157	0.92[ASN][1000 genomes]
rs12517008	0.83[EUR][1000 genomes]
rs12517112	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12518414	0.83[ASN][1000 genomes]
rs12519443	0.82[ASN][1000 genomes]
rs13167366	0.81[YRI][hapmap];0.83[EUR][1000 genomes]
rs13178745	0.83[ASN][1000 genomes]
rs1345824	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1364024	0.83[ASN][1000 genomes]
rs1364026	0.97[ASN][1000 genomes]
rs1364027	0.88[ASN][1000 genomes]
rs1423653	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1423654	0.97[ASN][1000 genomes]
rs1423656	0.85[EUR][1000 genomes]
rs1593070	0.97[ASN][1000 genomes]
rs1593071	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17231271	0.92[ASN][1000 genomes]
rs1862629	0.85[EUR][1000 genomes]
rs1895457	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2014958	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2113086	0.83[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2113088	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2161600	0.82[ASN][1000 genomes]
rs230807	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs230812	0.94[EUR][1000 genomes]
rs230813	0.94[EUR][1000 genomes]
rs230814	0.91[EUR][1000 genomes]
rs230816	0.94[EUR][1000 genomes]
rs230820	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2459629	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28919892	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs28919916	0.92[ASN][1000 genomes]
rs2910851	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2910855	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2910856	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2910862	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2910864	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2910875	1.00[CEU][hapmap]
rs2910880	0.84[EUR][1000 genomes]
rs2910881	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2972756	0.84[EUR][1000 genomes]
rs2972757	0.84[EUR][1000 genomes]
rs2972758	0.84[EUR][1000 genomes]
rs2972759	0.84[EUR][1000 genomes]
rs2972761	0.84[EUR][1000 genomes]
rs2972763	0.83[EUR][1000 genomes]
rs2972767	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2972783	0.85[EUR][1000 genomes]
rs2972998	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2972999	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2973000	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2973001	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2973006	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2973011	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2973015	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2973018	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2973023	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2973029	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2973031	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34502855	0.86[EUR][1000 genomes]
rs34742008	0.86[EUR][1000 genomes]
rs35293842	0.83[EUR][1000 genomes]
rs3797310	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3797311	0.97[ASN][1000 genomes]
rs3866438	0.93[ASN][1000 genomes]
rs3870358	0.97[ASN][1000 genomes]
rs3870359	0.97[ASN][1000 genomes]
rs3906418	0.86[ASN][1000 genomes]
rs4143864	0.92[ASN][1000 genomes]
rs4242120	0.98[ASN][1000 genomes]
rs4242121	0.98[ASN][1000 genomes]
rs4866794	0.95[ASN][1000 genomes]
rs4866797	0.98[ASN][1000 genomes]
rs4866798	0.93[ASN][1000 genomes]
rs4866799	0.82[ASN][1000 genomes]
rs4866800	0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs4866801	0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs4866949	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4866952	0.95[ASN][1000 genomes]
rs4866954	0.98[ASN][1000 genomes]
rs4866958	0.97[ASN][1000 genomes]
rs4866959	0.97[ASN][1000 genomes]
rs4866961	0.88[ASN][1000 genomes]
rs4866962	0.97[ASN][1000 genomes]
rs4866963	0.97[ASN][1000 genomes]
rs4866966	0.82[ASN][1000 genomes]
rs55651065	0.88[ASN][1000 genomes]
rs55687632	0.82[ASN][1000 genomes]
rs55688895	0.82[ASN][1000 genomes]
rs55801363	0.96[ASN][1000 genomes]
rs55881749	0.92[ASN][1000 genomes]
rs55928305	0.85[ASN][1000 genomes]
rs56273800	0.97[ASN][1000 genomes]
rs56300261	0.92[ASN][1000 genomes]
rs56394865	0.88[ASN][1000 genomes]
rs56848171	0.98[ASN][1000 genomes]
rs58429632	0.97[ASN][1000 genomes]
rs60008560	0.82[ASN][1000 genomes]
rs6180	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs62370873	0.98[ASN][1000 genomes]
rs62370874	0.98[ASN][1000 genomes]
rs62370911	0.97[ASN][1000 genomes]
rs62370912	0.88[ASN][1000 genomes]
rs62370951	0.80[ASN][1000 genomes]
rs62373001	0.96[ASN][1000 genomes]
rs62373002	0.96[ASN][1000 genomes]
rs6865453	0.83[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs6882333	0.81[YRI][hapmap];0.83[EUR][1000 genomes]
rs6899268	0.97[ASN][1000 genomes]
rs719756	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs722678	0.98[ASN][1000 genomes]
rs7579	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7708223	0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7708337	0.93[ASN][1000 genomes]
rs7725776	0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7725961	0.83[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs7730190	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7734918	0.83[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs8180394	0.97[ASN][1000 genomes]
rs8180482	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
9	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
10	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
11	esv3396726	chr5:42734244-42752824	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42746400-42752400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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