Variant report

Variant	rs787429
Chromosome Location	chr2:145852985-145852986
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	chr2:145846784..145849563-chr2:145851350..145854349,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10928240	0.82[EUR][1000 genomes]
rs1106909	0.87[EUR][1000 genomes]
rs12618916	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12691705	0.83[EUR][1000 genomes]
rs12988894	0.86[ASN][1000 genomes]
rs13028626	0.83[EUR][1000 genomes]
rs13035660	0.82[ASN][1000 genomes]
rs13408842	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16824481	0.87[ASN][1000 genomes]
rs16824484	0.84[ASN][1000 genomes]
rs1830321	0.83[EUR][1000 genomes]
rs1852681	0.87[ASN][1000 genomes]
rs1852684	0.82[EUR][1000 genomes]
rs1852685	0.84[EUR][1000 genomes]
rs2381686	0.94[EUR][1000 genomes]
rs2381687	0.90[EUR][1000 genomes]
rs28409418	0.87[ASN][1000 genomes]
rs28534561	0.86[ASN][1000 genomes]
rs28709970	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28837998	0.86[ASN][1000 genomes]
rs35541381	0.86[ASN][1000 genomes]
rs35690045	0.82[ASN][1000 genomes]
rs4662414	0.85[EUR][1000 genomes]
rs6725803	0.83[EUR][1000 genomes]
rs67571782	0.87[ASN][1000 genomes]
rs68088326	0.83[ASN][1000 genomes]
rs7593336	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs787428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv875262	chr2:145830053-145888369	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv875263	chr2:145830053-145892427	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv875264	chr2:145830053-145911634	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1004846	chr2:145852801-145919056	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145830400-145863200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:145846800-145853400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:145849800-145853600	Weak transcription	A549	lung
4	chr2:145850000-145853200	Weak transcription	NHLF	lung
5	chr2:145850000-145858800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:145850200-145853400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:145850200-145853400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:145850200-145853400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:145850200-145853400	Weak transcription	HMEC	breast
10	chr2:145850600-145853200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:145851000-145854000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:145851200-145854200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:145851600-145853600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:145852000-145854800	Enhancers	HSMM	muscle
15	chr2:145852200-145854600	Enhancers	NH-A	brain
16	chr2:145852200-145854800	Enhancers	Osteobl	bone
17	chr2:145852200-145855000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:145852200-145855400	Enhancers	NHDF-Ad	bronchial
19	chr2:145852600-145854800	Enhancers	HSMMtube	muscle
20	chr2:145852800-145856600	Weak transcription	Placenta Amnion	Placenta Amnion

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