Variant report

Variant	rs12723999
Chromosome Location	chr1:210605079-210605080
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	chr1:210545308..210548162-chr1:210603373..210605975,2	MCF-7	breast:
2	chr1:210603462..210605610-chr1:210606812..210609556,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10489381	1.00[ASN][1000 genomes]
rs12121595	1.00[ASN][1000 genomes]
rs12122405	1.00[ASN][1000 genomes]
rs12132714	1.00[ASN][1000 genomes]
rs12727682	1.00[ASN][1000 genomes]
rs12728944	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12736400	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741813	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741858	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12745578	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749416	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12750086	1.00[ASN][1000 genomes]
rs17260445	1.00[ASN][1000 genomes]
rs34167770	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35288720	1.00[ASN][1000 genomes]
rs35374511	1.00[ASN][1000 genomes]
rs4540660	1.00[ASN][1000 genomes]
rs61826932	1.00[ASN][1000 genomes]
rs61828077	1.00[ASN][1000 genomes]
rs61828094	1.00[ASN][1000 genomes]
rs61828095	1.00[ASN][1000 genomes]
rs6657514	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681264	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691136	1.00[ASN][1000 genomes]
rs6701536	1.00[ASN][1000 genomes]
rs7534803	1.00[ASN][1000 genomes]
rs7550888	1.00[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	esv2756883	chr1:210579523-210620779	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	esv2758995	chr1:210579523-210620779	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv999294	chr1:210598729-210612528	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv515857	chr1:210604130-210613616	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv818811	chr1:210604130-210613616	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1001747	chr1:210604734-210615281	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv999833	chr1:210604734-210620211	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv441734	chr1:210604746-210612524	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv2421437	chr1:210604746-210613616	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv2764216	chr1:210604746-210615293	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv514040	chr1:210605057-210611953	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210567400-210617200	Weak transcription	Left Ventricle	heart
2	chr1:210571400-210641000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:210586400-210610800	Weak transcription	Aorta	Aorta
4	chr1:210592000-210609400	Weak transcription	Ovary	ovary
5	chr1:210592800-210625000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:210601000-210607600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:210602400-210613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:210604200-210610000	Weak transcription	HSMM	muscle
9	chr1:210604600-210607200	Weak transcription	HSMMtube	muscle

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