Variant report

Variant	rs188697149
Chromosome Location	chr12:46009941-46009942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832395	chr12:45841765-46039297	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2751099	chr12:45960118-46043633	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv983462	chr12:46008670-46015543	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46005400-46011800	Weak transcription	Right Atrium	heart
2	chr12:46007600-46010600	Enhancers	Hela-S3	cervix
3	chr12:46008600-46010000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:46008600-46010000	Enhancers	HUVEC	blood vessel
5	chr12:46008800-46010200	Enhancers	NHLF	lung
6	chr12:46009000-46010000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:46009000-46010000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:46009000-46010000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:46009000-46010000	Enhancers	Fetal Kidney	kidney
10	chr12:46009000-46010000	Enhancers	HSMMtube	muscle
11	chr12:46009200-46010000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:46009200-46010000	Enhancers	HMEC	breast
13	chr12:46009200-46010000	Enhancers	NHDF-Ad	bronchial
14	chr12:46009400-46010000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:46009600-46010000	Enhancers	Brain Substantia Nigra	brain
16	chr12:46009600-46010000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr12:46009600-46010600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:46009600-46010600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:46009800-46010200	Enhancers	Brain Cingulate Gyrus	brain

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Input of quick search could be:

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

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