Variant report

Variant	rs548218188
Chromosome Location	chr2:67674739-67674740
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3418230	chr2:67674648-67676646	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67664600-67678400	Weak transcription	Aorta	Aorta
2	chr2:67672400-67675200	Enhancers	Rectal Smooth Muscle	rectum
3	chr2:67672800-67674800	Enhancers	Stomach Mucosa	stomach
4	chr2:67672800-67674800	Enhancers	Hela-S3	cervix
5	chr2:67673000-67674800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:67673000-67675000	Enhancers	A549	lung
7	chr2:67673200-67674800	Enhancers	HMEC	breast
8	chr2:67674000-67675600	Weak transcription	Fetal Heart	heart
9	chr2:67674200-67678600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:67674400-67678800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:67674600-67675600	Weak transcription	NHEK	skin
12	chr2:67674600-67675800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:67674600-67675800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:67674600-67678400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:67674600-67678400	Weak transcription	NH-A	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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