Variant report

Variant	rs2947007
Chromosome Location	chr15:54812603-54812604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12902108	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1818708	0.81[EUR][1000 genomes]
rs2899546	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4109295	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs537389	0.81[AMR][1000 genomes]
rs605869	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6493687	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817539	chr15:54132584-55095235	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1038660	chr15:54756184-55039913	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv275383	chr15:54810814-54814852	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54807000-54820600	Weak transcription	Fetal Brain Male	brain
2	chr15:54809000-54814000	Weak transcription	Ovary	ovary
3	chr15:54809600-54814400	Enhancers	Fetal Lung	lung
4	chr15:54811000-54869600	Weak transcription	Aorta	Aorta
5	chr15:54811800-54812800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:54811800-54813800	Weak transcription	Fetal Kidney	kidney
7	chr15:54812000-54813000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:54812000-54813200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr15:54812000-54813600	Enhancers	Primary T cells from cord blood	blood
10	chr15:54812000-54814400	Enhancers	Primary hematopoietic stem cells	blood
11	chr15:54812200-54812800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:54812200-54813600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr15:54812200-54814200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr15:54812400-54814400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:54812400-54814400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:54812600-54812800	Enhancers	Colon Smooth Muscle	Colon
17	chr15:54812600-54813000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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