Variant report

Variant	rs1654729
Chromosome Location	chr8:108394753-108394754
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1283663	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1283664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1283675	0.80[EUR][1000 genomes]
rs1283676	0.81[EUR][1000 genomes]
rs1283678	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs1283679	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs1283680	0.82[EUR][1000 genomes]
rs1283685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1283692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1283694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1283695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1283702	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1283703	1.00[JPT][hapmap]
rs1298936	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs1433182	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654750	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs1654751	0.82[EUR][1000 genomes]
rs1672165	0.82[EUR][1000 genomes]
rs1672166	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs2514866	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2916083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	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
2	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
3	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
4	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
5	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108387000-108394800	Weak transcription	Fetal Heart	heart
2	chr8:108387200-108395200	Weak transcription	Psoas Muscle	Psoas
3	chr8:108389800-108401200	Weak transcription	Fetal Kidney	kidney
4	chr8:108390000-108394800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:108390000-108395400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:108390200-108395200	Weak transcription	Osteobl	bone
7	chr8:108390400-108397000	Weak transcription	Fetal Lung	lung
8	chr8:108391600-108395400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:108392400-108396000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:108392800-108395000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:108393400-108394800	Weak transcription	Aorta	Aorta
12	chr8:108393600-108394800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:108393800-108397000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:108393800-108397800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:108393800-108397800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:108393800-108398200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:108394000-108397000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:108394000-108401400	Weak transcription	Ovary	ovary
19	chr8:108394200-108394800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:108394400-108395800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:108394600-108395000	Enhancers	Fetal Brain Male	brain
22	chr8:108394600-108395200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:108394600-108395800	Enhancers	Stomach Smooth Muscle	stomach

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