Variant report

Variant	rs1387856
Chromosome Location	chr3:67412945-67412946
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1065399	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1065400	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1979640	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2171933	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2171934	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6779718	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7620956	0.81[AMR][1000 genomes];0.87[EUR][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	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv834719	chr3:67396626-67589852	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67411200-67415000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr3:67411200-67415000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:67411200-67415200	Enhancers	Primary hematopoietic stem cells	blood
4	chr3:67411600-67414200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:67411800-67413200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:67412200-67413200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:67412200-67413400	Weak transcription	Primary T cells from cord blood	blood
8	chr3:67412400-67453000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:67412600-67413400	Enhancers	K562	blood
10	chr3:67412600-67414000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:67412600-67414000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:67412600-67414800	Enhancers	Dnd41	blood
13	chr3:67412600-67417000	Weak transcription	Aorta	Aorta
14	chr3:67412800-67413200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:67412800-67413400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:67412800-67413400	Enhancers	NHEK	skin

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

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