Variant report

Variant	rs373996224
Chromosome Location	chr2:145854327-145854328
allele	G/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: 7 )
Associated
traits (count: 0)

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	chr2:145852000-145854800	Enhancers	HSMM	muscle
4	chr2:145852200-145854600	Enhancers	NH-A	brain
5	chr2:145852200-145854800	Enhancers	Osteobl	bone
6	chr2:145852200-145855000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:145852200-145855400	Enhancers	NHDF-Ad	bronchial
8	chr2:145852600-145854800	Enhancers	HSMMtube	muscle
9	chr2:145852800-145856600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:145853200-145854600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:145853200-145855000	Enhancers	NHLF	lung
12	chr2:145853400-145854600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:145853400-145854600	Enhancers	Dnd41	blood
14	chr2:145853400-145854800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:145853400-145854800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:145853400-145854800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:145853400-145854800	Enhancers	HMEC	breast
18	chr2:145854000-145854600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:145854000-145854600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:145854200-145855000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:145854200-145856000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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