Variant report

Variant	rs1385812
Chromosome Location	chr3:59920004-59920005
allele	A/C
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:15)

rs_ID	r²[population]
rs11707269	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap]
rs11719244	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs17061480	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs17254765	0.83[CHD][hapmap]
rs3772447	0.82[CHB][hapmap];0.94[CHD][hapmap]
rs3772448	0.90[CHB][hapmap]
rs3772454	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs3772506	0.82[CHD][hapmap]
rs3796193	0.90[CHB][hapmap];0.94[CHD][hapmap];0.81[ASN][1000 genomes]
rs55676042	0.85[ASN][1000 genomes]
rs55706007	0.85[ASN][1000 genomes]
rs56286956	0.82[ASN][1000 genomes]
rs6802153	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs73104524	0.88[ASN][1000 genomes]
rs931322	0.94[CHD][hapmap]

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	nsv428085	chr3:59782509-60070116	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv460564	chr3:59821071-59927727	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv590384	chr3:59821071-59927727	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1014983	chr3:59884024-60558331	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv590387	chr3:59890976-60481459	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59914200-59920800	Weak transcription	Dnd41	blood
2	chr3:59914800-59928400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr3:59915600-59922600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr3:59915800-59925400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:59916200-59921400	Enhancers	Primary T cells from cord blood	blood
6	chr3:59916400-59927000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:59917200-59924600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr3:59918400-59920600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:59918600-59920400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:59918800-59925600	Weak transcription	Fetal Thymus	thymus
11	chr3:59919000-59920400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:59919400-59921000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr3:59919600-59925000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:59919800-59920800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:59919800-59920800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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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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