Variant report

Variant	rs12707677
Chromosome Location	chr7:84418987-84418988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:84418939..84420597-chr7:84425654..84428000,2	K562	blood:
2	chr7:84416565..84420321-chr7:84421212..84424088,3	K562	blood:
3	chr7:84416565..84419447-chr7:84421178..84423441,2	K562	blood:

Extended variants
information (count: 170 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs10085515	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs10224730	0.85[EUR][1000 genomes]
rs10225306	0.84[EUR][1000 genomes]
rs10227116	0.85[EUR][1000 genomes]
rs10229754	0.85[EUR][1000 genomes]
rs10232046	0.87[EUR][1000 genomes]
rs10235869	0.88[EUR][1000 genomes]
rs10239803	0.88[EUR][1000 genomes]
rs10240021	0.84[EUR][1000 genomes]
rs10243996	0.89[EUR][1000 genomes]
rs10246917	0.88[EUR][1000 genomes]
rs10249026	0.88[EUR][1000 genomes]
rs10260931	0.88[EUR][1000 genomes]
rs10265300	0.88[EUR][1000 genomes]
rs10272662	0.86[EUR][1000 genomes]
rs10274330	0.88[EUR][1000 genomes]
rs1030539	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1030540	0.85[EUR][1000 genomes]
rs1030541	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10954760	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10954761	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1118915	0.88[EUR][1000 genomes]
rs11761247	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs11762446	0.87[EUR][1000 genomes]
rs11764839	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11765826	0.88[EUR][1000 genomes]
rs11976179	0.88[EUR][1000 genomes]
rs11980701	0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11981981	0.90[EUR][1000 genomes]
rs11983702	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12154270	0.88[EUR][1000 genomes]
rs12154521	0.88[EUR][1000 genomes]
rs12154737	0.88[EUR][1000 genomes]
rs12154861	0.88[EUR][1000 genomes]
rs12155118	0.88[EUR][1000 genomes]
rs12155210	0.83[EUR][1000 genomes]
rs12672643	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs12707673	0.87[EUR][1000 genomes]
rs12707674	0.88[EUR][1000 genomes]
rs12707676	0.80[EUR][1000 genomes]
rs12707678	0.93[EUR][1000 genomes]
rs12707680	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12707681	0.88[EUR][1000 genomes]
rs12707682	0.85[EUR][1000 genomes]
rs12707683	0.85[EUR][1000 genomes]
rs12707684	0.87[EUR][1000 genomes]
rs13221551	0.88[EUR][1000 genomes]
rs13225076	0.88[EUR][1000 genomes]
rs13226061	0.85[EUR][1000 genomes]
rs13227976	0.88[EUR][1000 genomes]
rs13227983	0.85[EUR][1000 genomes]
rs13235916	0.88[EUR][1000 genomes]
rs13239654	0.88[EUR][1000 genomes]
rs13240109	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13243442	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13243701	0.86[EUR][1000 genomes]
rs13244454	0.83[EUR][1000 genomes]
rs13247373	0.89[EUR][1000 genomes]
rs13340534	0.89[EUR][1000 genomes]
rs1430593	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1579511	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1583135	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1583136	0.84[EUR][1000 genomes]
rs1583137	0.86[EUR][1000 genomes]
rs1583138	0.83[EUR][1000 genomes]
rs1583142	0.88[EUR][1000 genomes]
rs1583143	0.85[EUR][1000 genomes]
rs1583144	0.88[EUR][1000 genomes]
rs1583145	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1583147	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1594379	0.88[EUR][1000 genomes]
rs1594388	0.89[EUR][1000 genomes]
rs1594390	0.88[EUR][1000 genomes]
rs1594392	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1594393	0.83[EUR][1000 genomes]
rs1599876	0.88[EUR][1000 genomes]
rs1599877	0.88[EUR][1000 genomes]
rs1599878	0.88[EUR][1000 genomes]
rs1609872	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1609875	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1609876	0.85[EUR][1000 genomes]
rs1609877	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1813781	0.86[EUR][1000 genomes]
rs1819081	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs1820960	0.88[EUR][1000 genomes]
rs1820961	0.88[EUR][1000 genomes]
rs1820962	0.88[EUR][1000 genomes]
rs1897150	0.87[EUR][1000 genomes]
rs1897151	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1897155	0.88[EUR][1000 genomes]
rs1897158	0.84[EUR][1000 genomes]
rs1919284	0.84[EUR][1000 genomes]
rs1919285	0.81[EUR][1000 genomes]
rs1919287	0.89[CEU][hapmap]
rs1961063	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs1963873	0.86[EUR][1000 genomes]
rs1965737	0.92[EUR][1000 genomes]
rs1982016	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1982019	0.86[EUR][1000 genomes]
rs1982020	0.90[EUR][1000 genomes]
rs1984778	0.89[EUR][1000 genomes]
rs1988767	0.88[EUR][1000 genomes]
rs2141416	0.81[EUR][1000 genomes]
rs2195647	0.84[EUR][1000 genomes]
rs2217453	0.80[EUR][1000 genomes]
rs28613865	0.88[EUR][1000 genomes]
rs28671173	0.88[EUR][1000 genomes]
rs34085748	0.82[EUR][1000 genomes]
rs34125587	0.87[EUR][1000 genomes]
rs34701264	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34829637	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35037906	0.86[EUR][1000 genomes]
rs35433276	0.85[EUR][1000 genomes]
rs35441516	0.86[EUR][1000 genomes]
rs35508218	0.86[EUR][1000 genomes]
rs35992683	0.86[EUR][1000 genomes]
rs4072421	0.88[EUR][1000 genomes]
rs4301393	0.83[EUR][1000 genomes]
rs4395839	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs4401790	0.91[EUR][1000 genomes]
rs4481537	0.86[EUR][1000 genomes]
rs4503051	0.88[EUR][1000 genomes]
rs4518607	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs4534087	0.86[EUR][1000 genomes]
rs4563833	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs4728560	0.88[EUR][1000 genomes]
rs56757295	0.88[EUR][1000 genomes]
rs58730623	0.88[EUR][1000 genomes]
rs62471868	0.88[EUR][1000 genomes]
rs62471946	0.88[EUR][1000 genomes]
rs62474471	0.85[EUR][1000 genomes]
rs62474473	0.88[EUR][1000 genomes]
rs62474474	0.88[EUR][1000 genomes]
rs62474475	0.88[EUR][1000 genomes]
rs62474492	0.88[EUR][1000 genomes]
rs6468002	0.88[EUR][1000 genomes]
rs6468003	0.88[EUR][1000 genomes]
rs6468004	0.88[EUR][1000 genomes]
rs6946368	0.87[EUR][1000 genomes]
rs71560704	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs732793	0.87[EUR][1000 genomes]
rs732794	0.87[EUR][1000 genomes]
rs732795	0.87[EUR][1000 genomes]
rs733513	0.85[EUR][1000 genomes]
rs7458032	0.88[EUR][1000 genomes]
rs752660	0.87[EUR][1000 genomes]
rs752664	0.87[EUR][1000 genomes]
rs7777318	0.85[EUR][1000 genomes]
rs7782136	0.88[EUR][1000 genomes]
rs7782980	0.88[EUR][1000 genomes]
rs7783653	0.88[EUR][1000 genomes]
rs7787947	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7787961	0.87[EUR][1000 genomes]
rs7799648	0.89[CEU][hapmap];0.93[CHB][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7801827	0.88[EUR][1000 genomes]
rs7803475	0.85[EUR][1000 genomes]
rs7805691	0.88[EUR][1000 genomes]
rs7805723	0.89[EUR][1000 genomes]
rs919529	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9642192	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs9649677	0.83[EUR][1000 genomes]
rs993219	0.90[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv888641	chr7:84168615-84453100	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv888643	chr7:84196258-84453100	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2762684	chr7:84218035-84444871	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv831049	chr7:84277599-84475710	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv34238	chr7:84279023-84591966	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv831050	chr7:84355996-84527261	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr7:84413200-84420200	Weak transcription	HSMM	muscle
2	chr7:84413800-84420000	Weak transcription	Fetal Lung	lung
3	chr7:84418800-84440400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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