Variant report

Variant	rs12055228
Chromosome Location	chr5:80969036-80969037
allele	C/T
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]
rs10035410	0.89[ASN][1000 genomes]
rs10061125	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10514226	0.98[ASN][1000 genomes]
rs10514228	0.87[ASN][1000 genomes]
rs10942273	0.85[ASN][1000 genomes]
rs10942280	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1436497	0.96[ASN][1000 genomes]
rs28416701	0.85[ASN][1000 genomes]
rs28635132	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4283766	0.85[ASN][1000 genomes]
rs55998108	0.82[ASN][1000 genomes]
rs58940374	0.91[ASN][1000 genomes]
rs60005403	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878600	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9885520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882236	chr5:80930992-80999768	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv882237	chr5:80938489-81006061	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
2	chr5:80924800-80972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:80945600-80985400	Weak transcription	Fetal Kidney	kidney
4	chr5:80946200-80972800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:80948000-80971000	Weak transcription	Primary T cells from cord blood	blood
6	chr5:80950200-80975600	Weak transcription	Thymus	Thymus
7	chr5:80951800-80970800	Weak transcription	Primary B cells from cord blood	blood
8	chr5:80956800-80970000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:80956800-80971800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:80962000-80971000	Weak transcription	Fetal Thymus	thymus
11	chr5:80963200-80972200	Weak transcription	Ovary	ovary
12	chr5:80963400-80983200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:80963400-80983400	Weak transcription	Left Ventricle	heart
14	chr5:80963400-80983800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:80964000-80970600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:80967400-80980000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:80967400-80991400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:80967800-80973600	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:80968800-80969600	Enhancers	Dnd41	blood
20	chr5:80969000-80969400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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