Variant report

Variant	rs5002906
Chromosome Location	chr14:81445299-81445300
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	chr14:81443218..81445707-chr14:81448649..81450326,2	K562	blood:
2	chr14:81442891..81446024-chr14:81447547..81451295,3	K562	blood:

Variant related genes	Relation type
ENSG00000258915	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10149689	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs11625199	0.81[JPT][hapmap]
rs11845052	0.94[ASN][1000 genomes]
rs11850464	0.94[ASN][1000 genomes]
rs12050077	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs12050078	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs12050278	0.83[CHB][hapmap]
rs12050342	0.81[JPT][hapmap]
rs12050350	0.88[CHB][hapmap]
rs12050416	0.87[JPT][hapmap]
rs12437005	0.88[ASN][1000 genomes]
rs12896769	0.89[ASN][1000 genomes]
rs162171	0.81[JPT][hapmap]
rs162174	0.81[JPT][hapmap]
rs17544968	0.94[ASN][1000 genomes]
rs17545038	0.94[ASN][1000 genomes]
rs17545310	0.87[ASN][1000 genomes]
rs179243	0.87[CHB][hapmap]
rs179249	0.91[ASN][1000 genomes]
rs179251	0.91[ASN][1000 genomes]
rs179254	0.85[ASN][1000 genomes]
rs179257	0.93[ASN][1000 genomes]
rs1863766	0.81[JPT][hapmap]
rs1990597	0.93[ASN][1000 genomes]
rs2024427	0.94[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs2110696	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2114705	0.83[CHB][hapmap]
rs2195103	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs2217177	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs2217178	0.83[CHB][hapmap]
rs2239610	0.83[CHB][hapmap]
rs2268451	0.82[CHB][hapmap]
rs2268452	0.83[CHB][hapmap]
rs2268457	0.93[ASN][1000 genomes]
rs2268458	0.88[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2268460	0.83[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2284718	0.92[ASN][1000 genomes]
rs2284719	0.92[ASN][1000 genomes]
rs2284720	0.94[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs2284722	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284727	0.93[ASN][1000 genomes]
rs2288347	0.81[JPT][hapmap]
rs2556607	0.87[JPT][hapmap]
rs2556611	0.81[JPT][hapmap]
rs28850656	0.87[JPT][hapmap]
rs2888032	0.81[JPT][hapmap]
rs327434	0.81[JPT][hapmap]
rs328213	0.81[JPT][hapmap]
rs3783945	0.95[ASN][1000 genomes]
rs3783951	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903957	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs4903958	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903959	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55945219	0.94[ASN][1000 genomes]
rs59431750	0.95[ASN][1000 genomes]
rs59711583	0.94[ASN][1000 genomes]
rs6574608	0.81[JPT][hapmap]
rs6574609	0.87[JPT][hapmap]
rs7148019	0.81[YRI][hapmap]
rs7154269	0.82[CHB][hapmap]
rs7158936	0.81[JPT][hapmap]
rs724169	0.94[ASN][1000 genomes]
rs726020	0.88[CHB][hapmap];0.80[JPT][hapmap]
rs72693057	0.92[ASN][1000 genomes]
rs72693068	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693069	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693070	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693072	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693073	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693075	0.96[ASN][1000 genomes]
rs72693078	0.93[ASN][1000 genomes]
rs72693080	0.93[ASN][1000 genomes]
rs72693090	0.94[ASN][1000 genomes]
rs72693093	0.93[ASN][1000 genomes]
rs72693096	0.94[ASN][1000 genomes]
rs74064796	0.94[ASN][1000 genomes]
rs768359	0.87[JPT][hapmap]
rs8016507	0.81[JPT][hapmap]
rs8022600	0.81[CHB][hapmap]
rs917985	0.86[ASN][1000 genomes]
rs929630	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81442000-81446000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:81442200-81446200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:81442200-81447600	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:81443800-81445600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr14:81444000-81445800	Flanking Active TSS	Dnd41	blood
6	chr14:81444000-81447800	Weak transcription	Aorta	Aorta
7	chr14:81444000-81447800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:81444400-81445400	Enhancers	Brain Germinal Matrix	brain
9	chr14:81444600-81445400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:81444600-81445600	Enhancers	Primary T cells from cord blood	blood
11	chr14:81444800-81447800	Weak transcription	Placenta	Placenta
12	chr14:81444800-81447800	Weak transcription	Psoas Muscle	Psoas
13	chr14:81445000-81446600	Enhancers	Thymus	Thymus
14	chr14:81445000-81446800	Enhancers	Fetal Thymus	thymus

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