Variant report

Variant	rs3752172
Chromosome Location	chr19:42312933-42312934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12974044	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs2075751	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs3786539	1.00[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3752172	CEACAM3	cis	multi-tissue	Pritchard
rs3752172	PSG3	cis	multi-tissue	Pritchard
rs3752172	PSG9	cis	multi-tissue	Pritchard

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42304800-42316800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:42307000-42313600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr19:42307000-42314600	Weak transcription	Fetal Thymus	thymus
4	chr19:42308800-42313000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr19:42308800-42314400	Weak transcription	GM12878-XiMat	blood
6	chr19:42310600-42317800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:42312000-42314800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:42312000-42316600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr19:42312200-42313000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr19:42312200-42313000	Weak transcription	Spleen	Spleen
11	chr19:42312200-42316000	Enhancers	Primary hematopoietic stem cells	blood
12	chr19:42312200-42316400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr19:42312400-42313000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr19:42312400-42313600	Enhancers	Colonic Mucosa	Colon
15	chr19:42312600-42313000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:42312600-42313000	Bivalent Enhancer	Placenta	Placenta
17	chr19:42312800-42313200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr19:42312800-42313800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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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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