Variant report

Variant	rs786245
Chromosome Location	chr2:145754400-145754401
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	chr2:145282963..145285154-chr2:145751784..145754718,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1550323	0.80[ASN][1000 genomes]
rs17408223	0.80[ASN][1000 genomes]
rs17408272	0.80[ASN][1000 genomes]
rs2256460	0.85[ASN][1000 genomes]
rs2381684	0.80[ASN][1000 genomes]
rs6722557	0.83[ASN][1000 genomes]
rs7583863	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145748600-145756800	Weak transcription	Dnd41	blood
2	chr2:145753000-145754400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:145753400-145754600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:145753400-145754600	Enhancers	HUVEC	blood vessel
5	chr2:145753400-145754800	Enhancers	A549	lung
6	chr2:145753600-145754400	Enhancers	HSMM	muscle
7	chr2:145753600-145754800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:145753800-145754600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:145753800-145754600	Enhancers	NH-A	brain
10	chr2:145753800-145755800	Weak transcription	Adipose Nuclei	Adipose
11	chr2:145754000-145754600	Enhancers	NHDF-Ad	bronchial
12	chr2:145754000-145754800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:145754200-145754600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:145754200-145754600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:145754200-145754800	Enhancers	Ovary	ovary
16	chr2:145754200-145754800	Enhancers	Osteobl	bone
17	chr2:145754200-145756600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:145754400-145754600	Enhancers	Right Atrium	heart
19	chr2:145754400-145754800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:145754400-145754800	Enhancers	Aorta	Aorta
21	chr2:145754400-145756200	Weak transcription	HSMM	muscle

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