Variant report

Variant	rs214651
Chromosome Location	chr12:47706514-47706515
allele	C/T
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]
rs10881091	1.00[JPT][hapmap]
rs1421358	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097704	1.00[JPT][hapmap]
rs17097720	1.00[JPT][hapmap]
rs214643	0.91[ASN][1000 genomes]
rs214644	0.91[ASN][1000 genomes]
rs214646	0.91[ASN][1000 genomes]
rs214647	0.91[ASN][1000 genomes]
rs214649	0.91[ASN][1000 genomes]
rs214650	0.85[AMR][1000 genomes]
rs214652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855128	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47701600-47707800	Weak transcription	Pancreas	Pancrea
2	chr12:47701800-47706600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:47701800-47706600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:47701800-47706800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:47701800-47710400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:47702000-47710400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:47702000-47710400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:47702000-47710600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:47702800-47706600	Weak transcription	K562	blood
10	chr12:47704600-47710800	Enhancers	Liver	Liver
11	chr12:47705000-47708000	Enhancers	Fetal Intestine Large	intestine
12	chr12:47705200-47712200	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:47705400-47712800	Weak transcription	Spleen	Spleen
14	chr12:47705800-47711000	Enhancers	Primary B cells from cord blood	blood
15	chr12:47706200-47707200	Enhancers	Fetal Intestine Small	intestine
16	chr12:47706400-47706800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:47706400-47707400	Enhancers	GM12878-XiMat	blood
18	chr12:47706400-47707600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr12:47706400-47710400	Enhancers	A549	lung

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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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