Variant report

Variant	rs3019114
Chromosome Location	chr8:108389552-108389553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10087648	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs10100823	0.87[AFR][1000 genomes]
rs10101127	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs1283651	0.92[ASN][1000 genomes]
rs1283658	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13260972	0.86[AFR][1000 genomes]
rs1347183	0.83[YRI][hapmap]
rs1583301	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs1583302	0.83[AFR][1000 genomes]
rs1583303	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs1615900	0.88[AFR][1000 genomes]
rs1631144	0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs1631849	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs1632130	0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs1654703	0.83[AFR][1000 genomes]
rs1654704	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs1654707	0.82[AFR][1000 genomes]
rs1654709	0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs1654711	0.88[AFR][1000 genomes]
rs1654712	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs1654714	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs1654715	0.97[YRI][hapmap];0.88[AFR][1000 genomes]
rs1654718	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs1654720	0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs1654722	0.93[YRI][hapmap]
rs1672181	0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs1672182	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1672183	0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs1672184	0.93[YRI][hapmap];0.91[AFR][1000 genomes]
rs1672189	0.88[AFR][1000 genomes]
rs1672190	0.97[YRI][hapmap]
rs1672191	0.97[YRI][hapmap];0.88[AFR][1000 genomes]
rs1672193	0.81[YRI][hapmap];0.83[AFR][1000 genomes]
rs1672195	0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs1672197	0.83[AFR][1000 genomes]
rs2916079	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs2916080	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs2916082	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs2959350	0.86[AFR][1000 genomes]
rs2959351	0.83[AFR][1000 genomes]
rs3019112	0.83[AFR][1000 genomes]
rs892245	0.97[YRI][hapmap];0.88[AFR][1000 genomes]
rs892246	0.97[YRI][hapmap];0.88[AFR][1000 genomes]
rs892247	0.97[YRI][hapmap];0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915821	chr8:107796490-108393008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1028726	chr8:107816841-108392547	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1030831	chr8:108224295-108466437	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv539714	chr8:108224295-108466437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108345200-108393200	Weak transcription	Aorta	Aorta
2	chr8:108382200-108392400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:108382200-108393000	Weak transcription	Ovary	ovary
4	chr8:108385000-108390400	Enhancers	Fetal Lung	lung
5	chr8:108386600-108389600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:108387000-108389600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:108387000-108394800	Weak transcription	Fetal Heart	heart
8	chr8:108387200-108395200	Weak transcription	Psoas Muscle	Psoas
9	chr8:108387800-108390000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:108388200-108390000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:108388400-108389800	Enhancers	NHLF	lung
12	chr8:108388400-108390000	Enhancers	Fetal Stomach	stomach
13	chr8:108388600-108389600	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:108388600-108392400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:108388800-108390800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:108388800-108394400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:108389200-108390000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:108389200-108390000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:108389400-108389600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:108389400-108390000	Enhancers	HUVEC	blood vessel
21	chr8:108389400-108390200	Enhancers	Osteobl	bone

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