Variant report

Variant	rs1080476
Chromosome Location	chr15:50281051-50281052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50275595..50278547-chr15:50278669..50281707,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10519252	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11632984	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12101586	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs12899434	0.91[CHB][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.90[ASN][1000 genomes]
rs12914620	0.90[CHB][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16963149	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs16963151	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs4430689	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs8027127	0.80[ASN][1000 genomes]
rs8027524	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs8027678	0.80[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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904205	chr15:50228476-50286981	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50268600-50290400	Strong transcription	Primary hematopoietic stem cells	blood
2	chr15:50275400-50283200	Weak transcription	NHLF	lung
3	chr15:50276800-50281200	Weak transcription	Left Ventricle	heart
4	chr15:50277600-50282200	Enhancers	Fetal Stomach	stomach
5	chr15:50277600-50282400	Enhancers	Ovary	ovary
6	chr15:50278000-50281200	Weak transcription	Right Atrium	heart
7	chr15:50278000-50301600	Weak transcription	Liver	Liver
8	chr15:50278400-50283800	Enhancers	Rectal Smooth Muscle	rectum
9	chr15:50278400-50285000	Enhancers	Colon Smooth Muscle	Colon
10	chr15:50278800-50281600	Weak transcription	Aorta	Aorta
11	chr15:50279800-50283400	Enhancers	Stomach Smooth Muscle	stomach
12	chr15:50280000-50281200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:50280200-50281400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr15:50280200-50281600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:50280400-50281200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:50280400-50288000	Weak transcription	Fetal Muscle Leg	muscle
17	chr15:50280600-50281400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr15:50280600-50283400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:50280800-50282000	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr15:50281000-50281200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:50281000-50282000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:50281000-50282200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr15:50281000-50282200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:50281000-50282600	Enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links