Variant report

Variant	rs12086145
Chromosome Location	chr1:210161830-210161831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210022782..210025213-chr1:210160452..210161959,2	K562	blood:
2	chr1:210033587..210036202-chr1:210159897..210162588,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10127635	1.00[EUR][1000 genomes]
rs1016480	1.00[EUR][1000 genomes]
rs1016481	1.00[EUR][1000 genomes]
rs10863808	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119380	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119392	0.93[AFR][1000 genomes]
rs11119393	1.00[EUR][1000 genomes]
rs11119395	1.00[EUR][1000 genomes]
rs11119402	1.00[EUR][1000 genomes]
rs11119404	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119408	1.00[EUR][1000 genomes]
rs11119411	1.00[EUR][1000 genomes]
rs11801400	1.00[EUR][1000 genomes]
rs11808818	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11810848	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11811996	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059259	1.00[EUR][1000 genomes]
rs12073806	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078871	1.00[EUR][1000 genomes]
rs12079711	1.00[EUR][1000 genomes]
rs12080332	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12082067	1.00[EUR][1000 genomes]
rs12085355	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088415	1.00[EUR][1000 genomes]
rs12089636	1.00[EUR][1000 genomes]
rs12090781	1.00[EUR][1000 genomes]
rs12092551	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093254	1.00[EUR][1000 genomes]
rs12239153	1.00[EUR][1000 genomes]
rs12239590	1.00[EUR][1000 genomes]
rs12239724	1.00[EUR][1000 genomes]
rs1334572	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13376651	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1413698	1.00[EUR][1000 genomes]
rs1591300	1.00[EUR][1000 genomes]
rs1602289	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17015476	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17015480	1.00[EUR][1000 genomes]
rs17015532	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17015561	1.00[EUR][1000 genomes]
rs17015638	1.00[EUR][1000 genomes]
rs17015652	1.00[EUR][1000 genomes]
rs17041975	1.00[EUR][1000 genomes]
rs2018942	1.00[EUR][1000 genomes]
rs2130626	1.00[EUR][1000 genomes]
rs2130627	1.00[EUR][1000 genomes]
rs2130628	1.00[EUR][1000 genomes]
rs2171988	1.00[EUR][1000 genomes]
rs34400113	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35046399	1.00[EUR][1000 genomes]
rs56075770	1.00[EUR][1000 genomes]
rs56105015	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56271040	1.00[EUR][1000 genomes]
rs56733441	1.00[EUR][1000 genomes]
rs57082045	1.00[EUR][1000 genomes]
rs57790572	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58775140	1.00[EUR][1000 genomes]
rs59230578	1.00[EUR][1000 genomes]
rs61049229	1.00[EUR][1000 genomes]
rs6540577	1.00[EUR][1000 genomes]
rs6689269	1.00[EUR][1000 genomes]
rs6692116	1.00[EUR][1000 genomes]
rs6692822	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73066422	1.00[EUR][1000 genomes]
rs73066498	1.00[EUR][1000 genomes]
rs73068419	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73072224	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74156272	1.00[EUR][1000 genomes]
rs7512760	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7515629	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7523089	1.00[EUR][1000 genomes]
rs7530907	1.00[EUR][1000 genomes]
rs7536495	1.00[EUR][1000 genomes]
rs7556078	1.00[EUR][1000 genomes]
rs970788	1.00[EUR][1000 genomes]
rs978754	1.00[EUR][1000 genomes]
rs9803620	1.00[EUR][1000 genomes]
rs9970894	1.00[EUR][1000 genomes]

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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210159400-210162000	Weak transcription	NHEK	skin
2	chr1:210159400-210163000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:210159400-210166600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:210159600-210166200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:210159600-210168200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:210161200-210162000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:210161600-210163400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:210161800-210162800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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