Variant report

Variant	rs521388
Chromosome Location	chr3:59771951-59771952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1485715	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1485718	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17302746	1.00[CEU][hapmap]
rs1797563	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4679609	0.90[ASN][1000 genomes]
rs4679611	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.87[EUR][1000 genomes]
rs4679623	1.00[CEU][hapmap]
rs493783	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs56351611	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs780345	0.82[CHB][hapmap];0.89[ASN][1000 genomes]
rs9813457	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9823629	0.87[EUR][1000 genomes];0.91[ASN][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	nsv1014601	chr3:59666609-59888166	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv1003387	chr3:59756364-59831340	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv460562	chr3:59760118-59826778	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv590381	chr3:59760118-59826778	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv590382	chr3:59763809-59793062	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59760400-59776000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr3:59761000-59772400	Weak transcription	Fetal Brain Male	brain
3	chr3:59769800-59791400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:59770000-59779000	Weak transcription	Thymus	Thymus
5	chr3:59770200-59775800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:59770400-59774000	Weak transcription	Fetal Thymus	thymus
7	chr3:59770400-59775800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:59770400-59776600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr3:59770400-59825200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr3:59770600-59776200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr3:59770800-59773800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr3:59770800-59773800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:59771000-59773600	Strong transcription	Primary T cells from cord blood	blood
14	chr3:59771000-59775600	Weak transcription	Dnd41	blood
15	chr3:59771400-59772600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:59771400-59773000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr3:59771800-59772400	Enhancers	Fetal Brain Female	brain
18	chr3:59771800-59772600	Enhancers	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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