Variant report

Variant	rs12402947
Chromosome Location	chr1:194910213-194910214
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4292939	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72746014	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72746016	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014879	chr1:194418509-195274182	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1011220	chr1:194434255-195276317	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv872863	chr1:194506982-194924039	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv872871	chr1:194550938-194924039	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv915732	chr1:194618260-194934975	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv872876	chr1:194676971-194910364	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv872879	chr1:194679220-194910364	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv872882	chr1:194724361-194910364	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv872883	chr1:194724361-194938243	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv467127	chr1:194772457-194961172	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv548698	chr1:194772457-194961172	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv548699	chr1:194777806-195202201	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv533460	chr1:194779033-195627237	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv872884	chr1:194783067-195018786	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv832204	chr1:194798569-194939320	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv872887	chr1:194819196-194924039	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv872888	chr1:194839289-194938243	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv872889	chr1:194857420-195018786	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv467138	chr1:194867910-194910364	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv548701	chr1:194867910-194910364	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv872890	chr1:194869500-194924039	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv872891	chr1:194870594-194938243	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv3335193	chr1:194876244-194934664	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv832215	chr1:194902968-195106134	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194908600-194910800	Enhancers	Fetal Brain Male	brain
2	chr1:194910000-194910400	Weak transcription	Fetal Brain Female	brain

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