Variant report

Variant	rs12165290
Chromosome Location	chr21:46046919-46046920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12482310	0.86[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs1827518	0.86[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs2838606	1.00[JPT][hapmap]
rs2838607	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs2838608	1.00[CHB][hapmap]
rs2838609	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs7275571	0.86[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap]
rs9976987	0.81[CEU][hapmap];0.87[GIH][hapmap];0.93[TSI][hapmap]
rs9978560	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs9980554	0.86[CEU][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap]
rs9981523	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12165290	KRTAP10-12	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46018400-46048400	Weak transcription	Right Atrium	heart
2	chr21:46045000-46050000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr21:46045200-46050000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr21:46045400-46051000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr21:46045800-46047600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr21:46045800-46047800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr21:46046200-46047000	Enhancers	Right Ventricle	heart
8	chr21:46046200-46047600	Enhancers	Spleen	Spleen
9	chr21:46046200-46049000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr21:46046400-46048000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr21:46046600-46047200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:46046600-46047400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr21:46046600-46047600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr21:46046600-46047800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr21:46046600-46048600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr21:46046600-46049000	Weak transcription	Left Ventricle	heart
17	chr21:46046600-46049200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

Quick Search:

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

what's new

Quick links