Variant report

Variant	rs12135346
Chromosome Location	chr1:154254317-154254318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154254090..154256536-chr1:154296503..154300363,3	K562	blood:
2	chr1:154243597..154246498-chr1:154252885..154254994,3	MCF-7	breast:
3	chr1:153938174..153939881-chr1:154251981..154254395,2	MCF-7	breast:
4	chr1:154254090..154256536-chr1:154296503..154298953,2	K562	blood:

Variant related genes	Relation type
ENSG00000143575	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000273026	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1044013	0.80[ASN][1000 genomes]
rs12023901	0.86[ASN][1000 genomes]
rs12025237	0.88[ASN][1000 genomes]
rs12026615	0.88[ASN][1000 genomes]
rs12027999	0.87[ASN][1000 genomes]
rs12733060	0.88[ASN][1000 genomes]
rs12738393	0.88[ASN][1000 genomes]
rs12742691	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12743874	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12749447	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12750321	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1760801	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1760802	0.83[ASN][1000 genomes]
rs1760803	0.81[ASN][1000 genomes]
rs2274993	0.88[ASN][1000 genomes]
rs2282227	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3762340	0.84[ASN][1000 genomes]
rs3790613	0.88[ASN][1000 genomes]
rs3790614	0.88[ASN][1000 genomes]
rs3811453	0.85[ASN][1000 genomes]
rs3828077	0.88[ASN][1000 genomes]
rs6673752	0.88[ASN][1000 genomes]
rs7522777	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154246200-154259400	Weak transcription	Right Atrium	heart
2	chr1:154248200-154255200	Weak transcription	Pancreas	Pancrea
3	chr1:154248400-154255000	Weak transcription	A549	lung
4	chr1:154248400-154255800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:154248400-154256800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:154248400-154261000	Weak transcription	K562	blood
7	chr1:154249400-154255000	Weak transcription	Spleen	Spleen
8	chr1:154249600-154255000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:154250800-154259400	Weak transcription	Lung	lung
10	chr1:154253400-154255800	Enhancers	HepG2	liver

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