Variant report

Variant	rs17129140
Chromosome Location	chr12:41621900-41621901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11392694	0.90[AFR][1000 genomes]
rs11830850	1.00[AFR][1000 genomes]
rs11835868	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1431120	1.00[AMR][1000 genomes]
rs17129118	0.93[AFR][1000 genomes]
rs17129138	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57259770	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58479177	1.00[AFR][1000 genomes]
rs58686550	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58695957	1.00[AFR][1000 genomes]
rs59215090	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59820351	0.98[AFR][1000 genomes]
rs73117069	0.90[AFR][1000 genomes]
rs73117071	0.90[AFR][1000 genomes]
rs73119031	0.98[AFR][1000 genomes]
rs73119042	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73119065	1.00[AFR][1000 genomes]

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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41611800-41625200	Weak transcription	Aorta	Aorta
2	chr12:41616000-41623200	Weak transcription	Ovary	ovary
3	chr12:41616200-41623000	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:41621000-41625400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:41621200-41622200	Enhancers	Primary B cells from cord blood	blood
6	chr12:41621200-41622200	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:41621400-41622000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:41621400-41622200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:41621600-41622000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:41621800-41623600	Enhancers	Brain Substantia Nigra	brain

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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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