Variant report

Variant	rs1283653
Chromosome Location	chr8:108369127-108369128
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:108364652..108367113-chr8:108367728..108369614,2	K562	blood:
2	chr8:108368066..108369728-chr8:108370980..108373315,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10107690	0.96[CEU][hapmap]
rs10808413	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1283655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1283657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347183	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs1902323	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2445359	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2445364	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2445367	0.83[ASN][1000 genomes]
rs2514860	0.90[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2514887	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3019115	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3808595	1.00[CEU][hapmap]
rs4077322	1.00[CEU][hapmap];0.82[TSI][hapmap]
rs4133396	1.00[CEU][hapmap];0.82[TSI][hapmap]
rs4389897	0.91[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];0.80[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4463391	1.00[CEU][hapmap]
rs4472483	1.00[CEU][hapmap];0.82[TSI][hapmap]
rs6469108	1.00[CEU][hapmap]
rs6982658	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7004005	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029202	chr8:107796289-108384241	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539712	chr8:107796289-108384241	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1034210	chr8:107796489-108384102	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv539713	chr8:107796489-108384102	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription 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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	esv1832253	chr8:108355808-108371820	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108345200-108393200	Weak transcription	Aorta	Aorta
2	chr8:108352400-108379000	Weak transcription	Psoas Muscle	Psoas
3	chr8:108357200-108375000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:108358600-108375200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:108359000-108374400	Weak transcription	Adipose Nuclei	Adipose
6	chr8:108360400-108374400	Weak transcription	Fetal Heart	heart
7	chr8:108362600-108369800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:108365800-108370000	Enhancers	Osteobl	bone
9	chr8:108365800-108372600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:108366000-108370600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:108367200-108369800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:108367200-108369800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:108368000-108369200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:108368000-108372400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:108368400-108372800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:108368600-108370000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:108368600-108371000	Enhancers	Fetal Lung	lung
18	chr8:108368800-108369200	Enhancers	Fetal Kidney	kidney
19	chr8:108368800-108372000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:108368800-108372200	Weak transcription	NHDF-Ad	bronchial
21	chr8:108369000-108369400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:108369000-108369600	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links