Variant report

Variant	rs68088326
Chromosome Location	chr2:145853903-145853904
allele	C/T
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: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10496974	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12618916	0.84[ASN][1000 genomes]
rs12988894	0.97[ASN][1000 genomes]
rs13014698	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13026163	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13035660	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13408842	0.84[ASN][1000 genomes]
rs16824481	0.96[ASN][1000 genomes]
rs16824484	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1852681	0.96[ASN][1000 genomes]
rs1997287	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28409418	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28534561	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28837998	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35541381	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35690045	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4662233	0.82[ASN][1000 genomes]
rs6740528	0.81[ASN][1000 genomes]
rs67571782	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7426239	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs787428	0.83[ASN][1000 genomes]
rs787429	0.83[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:21 , 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	chr2:145850000-145858800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:145851000-145854000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:145851200-145854200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:145852000-145854800	Enhancers	HSMM	muscle
6	chr2:145852200-145854600	Enhancers	NH-A	brain
7	chr2:145852200-145854800	Enhancers	Osteobl	bone
8	chr2:145852200-145855000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:145852200-145855400	Enhancers	NHDF-Ad	bronchial
10	chr2:145852600-145854800	Enhancers	HSMMtube	muscle
11	chr2:145852800-145856600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:145853200-145854600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:145853200-145855000	Enhancers	NHLF	lung
14	chr2:145853400-145854600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:145853400-145854600	Enhancers	Dnd41	blood
16	chr2:145853400-145854800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:145853400-145854800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:145853400-145854800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:145853400-145854800	Enhancers	HMEC	breast
20	chr2:145853600-145854000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:145853800-145854000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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