Variant report

Variant	rs4128623
Chromosome Location	chr7:84386060-84386061
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10155838	0.83[AMR][1000 genomes]
rs10225298	0.89[ASN][1000 genomes]
rs10225557	0.89[ASN][1000 genomes]
rs10226259	0.83[AMR][1000 genomes]
rs10226299	0.83[AMR][1000 genomes]
rs10229919	1.00[AFR][1000 genomes]
rs10231229	0.83[AMR][1000 genomes]
rs10234675	0.83[AMR][1000 genomes]
rs10235779	0.83[AMR][1000 genomes]
rs10236624	0.83[AMR][1000 genomes]
rs10238680	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10240135	0.83[AMR][1000 genomes]
rs10244742	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs10249541	0.83[AMR][1000 genomes]
rs10253819	0.81[ASN][1000 genomes]
rs10253977	0.83[AMR][1000 genomes]
rs10254761	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10258050	0.83[AMR][1000 genomes]
rs10260013	0.83[AMR][1000 genomes]
rs10263930	0.83[AMR][1000 genomes]
rs10264300	1.00[AFR][1000 genomes]
rs10264994	0.83[AMR][1000 genomes]
rs10265448	0.81[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10266193	0.83[AMR][1000 genomes]
rs10268436	0.83[AMR][1000 genomes]
rs10268834	0.83[AMR][1000 genomes]
rs10269265	0.83[AMR][1000 genomes]
rs10270546	0.83[AMR][1000 genomes]
rs10271786	0.83[AMR][1000 genomes]
rs10274807	0.83[AMR][1000 genomes]
rs10274814	0.87[ASN][1000 genomes]
rs10480534	0.81[AMR][1000 genomes]
rs1318546	0.83[ASN][1000 genomes]
rs13437628	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13438429	0.82[AMR][1000 genomes]
rs1406341	0.86[ASN][1000 genomes]
rs1583140	0.83[AMR][1000 genomes]
rs1583141	0.83[AMR][1000 genomes]
rs1583146	0.87[ASN][1000 genomes]
rs1594376	0.83[AMR][1000 genomes]
rs1594377	0.83[AMR][1000 genomes]
rs1594395	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs17159219	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs17159404	0.83[ASN][1000 genomes]
rs1811353	0.83[ASN][1000 genomes]
rs1864526	0.81[ASN][1000 genomes]
rs1864527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1897156	0.87[ASN][1000 genomes]
rs1997302	0.83[ASN][1000 genomes]
rs2293574	0.83[ASN][1000 genomes]
rs28408003	0.83[AMR][1000 genomes]
rs28439673	0.83[AMR][1000 genomes]
rs28448564	0.83[AMR][1000 genomes]
rs28735889	0.83[AMR][1000 genomes]
rs28804974	0.83[AMR][1000 genomes]
rs28852818	0.83[AMR][1000 genomes]
rs4128624	0.80[AMR][1000 genomes]
rs4236672	0.91[ASN][1000 genomes]
rs4283991	0.91[ASN][1000 genomes]
rs4283992	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4286890	0.83[ASN][1000 genomes]
rs4338048	0.91[ASN][1000 genomes]
rs4358754	0.83[AMR][1000 genomes]
rs4443588	0.83[AMR][1000 genomes]
rs4549716	0.92[ASN][1000 genomes]
rs4551285	0.96[ASN][1000 genomes]
rs4563832	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4595076	0.91[ASN][1000 genomes]
rs4620233	0.83[AMR][1000 genomes]
rs4621727	0.87[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs4623351	0.81[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4728558	0.91[ASN][1000 genomes]
rs4728561	0.83[AMR][1000 genomes]
rs4728562	0.83[AMR][1000 genomes]
rs4728568	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.81[ASN][1000 genomes]
rs4732572	0.90[ASN][1000 genomes]
rs4732574	0.90[ASN][1000 genomes]
rs4732583	0.96[ASN][1000 genomes]
rs4732584	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4732585	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4732586	0.83[AMR][1000 genomes]
rs4732587	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4732590	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs4732591	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs4732592	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs57745821	0.83[AMR][1000 genomes]
rs58079066	0.82[AMR][1000 genomes]
rs58836788	0.86[ASN][1000 genomes]
rs59138424	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59348972	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61463020	0.91[ASN][1000 genomes]
rs6943231	0.82[AMR][1000 genomes]
rs6947596	0.83[AMR][1000 genomes]
rs6957762	0.83[AMR][1000 genomes]
rs6975316	0.83[AMR][1000 genomes]
rs73710992	0.90[ASN][1000 genomes]
rs73713541	0.81[ASN][1000 genomes]
rs73713553	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73713556	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7781015	0.83[AMR][1000 genomes]
rs7797337	0.83[AMR][1000 genomes]
rs7797505	0.83[AMR][1000 genomes]
rs7810914	0.83[AMR][1000 genomes]
rs891484	0.83[AMR][1000 genomes]
rs934302	0.84[AMR][1000 genomes];0.83[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	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	nsv1031149	chr7:84144990-84404356	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv831047	chr7:84231938-84408081	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv888644	chr7:84253690-84386060	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84384600-84390000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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