Variant report

Variant	rs551943240
Chromosome Location	chr19:42248519-42248520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	esv3425986	chr19:42212540-42259719	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv579615	chr19:42221434-42310388	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3430577	chr19:42247653-42285973	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42240400-42249600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr19:42246600-42250600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr19:42246600-42250800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr19:42246600-42251000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr19:42247000-42248600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:42247000-42249000	Weak transcription	Stomach Mucosa	stomach
7	chr19:42247000-42249600	Enhancers	Primary B cells from cord blood	blood
8	chr19:42247000-42251000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:42247200-42249000	Enhancers	Primary hematopoietic stem cells	blood
10	chr19:42247800-42249200	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr19:42248000-42249000	Enhancers	Primary B cells from peripheral blood	blood
12	chr19:42248000-42249400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr19:42248000-42250600	Enhancers	Fetal Intestine Large	intestine
14	chr19:42248200-42251000	Enhancers	Fetal Intestine Small	intestine
15	chr19:42248400-42249000	Weak transcription	Colonic Mucosa	Colon
16	chr19:42248400-42250800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr19:42248400-42250800	Enhancers	Rectal Mucosa Donor 31	rectum

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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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