Variant report

Variant	rs17114354
Chromosome Location	chr12:75291946-75291947
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	chr12:75289946..75292091-chr12:75296334..75297885,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10506679	1.00[CEU][hapmap]
rs10748270	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180272	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180273	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180280	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180305	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180306	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180308	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180309	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180310	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180313	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180318	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180319	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180337	1.00[CEU][hapmap]
rs12230187	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12299691	1.00[CEU][hapmap]
rs12304499	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs1508273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1526811	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2030879	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2177934	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2177935	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4567539	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58948261	0.93[EUR][1000 genomes]
rs59787875	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60204167	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60280721	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74107416	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74107497	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74108145	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74108146	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74110804	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74110806	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7975620	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524456	chr12:75162157-75405957	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv899303	chr12:75174462-75291946	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv899306	chr12:75186603-75291946	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899307	chr12:75221397-75479379	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv510603	chr12:75267275-75298527	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv832461	chr12:75279973-75433102	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75284200-75292600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:75284400-75294400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:75285800-75292800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:75287000-75293200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:75287000-75294000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:75290600-75292000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:75290800-75293200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:75290800-75295600	Enhancers	Primary T cells from cord blood	blood
9	chr12:75291200-75292200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:75291200-75292800	Enhancers	A549	lung
11	chr12:75291400-75292400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:75291600-75292000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:75291600-75292000	Enhancers	Thymus	Thymus

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