Variant report

Variant	rs12078173
Chromosome Location	chr1:160508113-160508114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11265420	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11265427	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11265429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11265430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11265435	1.00[AMR][1000 genomes]
rs11486168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062138	1.00[AMR][1000 genomes]
rs12062516	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064709	1.00[AMR][1000 genomes]
rs12072092	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080400	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12081008	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12097429	1.00[AMR][1000 genomes]
rs56027103	1.00[AMR][1000 genomes]
rs56934040	1.00[AMR][1000 genomes]
rs61702023	1.00[AMR][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	esv1829614	chr1:160465291-160595000	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv872491	chr1:160470258-160580549	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831703	chr1:160496124-160643024	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160505400-160508400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:160506200-160508600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:160506200-160511400	Weak transcription	Small Intestine	intestine
4	chr1:160507000-160508600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:160507200-160508200	Weak transcription	Fetal Thymus	thymus
6	chr1:160507200-160508400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:160507200-160508600	Weak transcription	Stomach Mucosa	stomach
8	chr1:160507600-160508200	ZNF genes & repeats	K562	blood
9	chr1:160507600-160515400	Enhancers	Fetal Intestine Large	intestine
10	chr1:160507800-160508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:160507800-160509600	Enhancers	Thymus	Thymus
12	chr1:160507800-160509800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:160507800-160509800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:160507800-160515400	Enhancers	Fetal Intestine Small	intestine

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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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