Variant report

Variant	rs570483599
Chromosome Location	chr12:40603115-40603116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1052661	chr12:40603049-40642812	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40601400-40604400	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:40601600-40604400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr12:40602000-40603800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:40602200-40603800	Enhancers	GM12878-XiMat	blood
5	chr12:40602200-40604200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr12:40602200-40604200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:40602200-40604200	Enhancers	Fetal Kidney	kidney
8	chr12:40602200-40604400	Enhancers	Primary hematopoietic stem cells	blood
9	chr12:40602400-40604000	Enhancers	A549	lung
10	chr12:40602600-40603600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:40602800-40603200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr12:40602800-40603200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:40602800-40603200	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr12:40602800-40603400	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr12:40602800-40603600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:40603000-40603800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr12:40603000-40604400	Enhancers	Hela-S3	cervix

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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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