Variant report

Variant	rs214649
Chromosome Location	chr12:47704643-47704644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1421358	0.91[ASN][1000 genomes]
rs214643	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214644	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214646	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214647	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214650	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs214651	0.91[ASN][1000 genomes]
rs214652	0.91[ASN][1000 genomes]
rs214653	0.91[ASN][1000 genomes]
rs214654	0.91[ASN][1000 genomes]
rs214689	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs214690	0.81[EUR][1000 genomes]
rs855121	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs855128	0.91[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	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 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	chr12:47701600-47705800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:47701600-47707800	Weak transcription	Pancreas	Pancrea
3	chr12:47701800-47706400	Weak transcription	GM12878-XiMat	blood
4	chr12:47701800-47706400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr12:47701800-47706600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:47701800-47706600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:47701800-47706800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:47701800-47710400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:47702000-47705200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:47702000-47706400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:47702000-47710400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:47702000-47710400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:47702000-47710600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:47702400-47705800	Weak transcription	Primary B cells from cord blood	blood
15	chr12:47702600-47706400	Weak transcription	A549	lung
16	chr12:47702800-47706600	Weak transcription	K562	blood
17	chr12:47704600-47710800	Enhancers	Liver	Liver

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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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