Variant report

Variant	rs12328400
Chromosome Location	chr2:53461285-53461286
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13385885	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401835	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13403430	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13406218	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7566850	0.93[AFR][1000 genomes];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	esv2751897	chr2:53358205-53475338	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53456600-53464000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr2:53459600-53464200	Enhancers	Dnd41	blood
3	chr2:53459800-53461400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:53459800-53461600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:53459800-53462600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:53460200-53463000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:53460800-53462800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:53461000-53461600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:53461000-53461600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr2:53461000-53462000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:53461000-53462000	Enhancers	Fetal Thymus	thymus
12	chr2:53461000-53462800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:53461000-53463000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:53461200-53461400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:53461200-53461600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:53461200-53462200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:53461200-53463000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:53461200-53463200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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

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