Variant report

Variant	rs7464479
Chromosome Location	chr8:108238820-108238821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:108237961..108240814-chr8:108249385..108251392,2	K562	blood:
2	chr8:108238270..108239984-chr8:108244378..108246016,2	MCF-7	breast:
3	chr8:108230563..108232066-chr8:108238210..108240412,2	K562	blood:
4	chr8:108236936..108239830-chr8:108242541..108244471,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10086783	0.87[AFR][1000 genomes]
rs13257649	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13268936	0.93[ASN][1000 genomes]
rs13278607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16875901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16875907	0.81[EUR][1000 genomes]
rs34227312	0.81[EUR][1000 genomes]
rs34281740	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34323134	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34501780	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34683506	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56810257	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57695839	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66943461	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67574703	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67833851	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68043487	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7006210	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7838589	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9643028	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9643029	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv529383	chr8:107796490-108368465	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	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
7	nsv916496	chr8:107813722-108338822	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	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
9	nsv497805	chr8:107852509-108368371	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1026763	chr8:108155029-108263914	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	nsv891266	chr8:108234516-108307058	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108227800-108276200	Weak transcription	Aorta	Aorta
2	chr8:108233200-108239600	Enhancers	NHDF-Ad	bronchial
3	chr8:108233200-108240000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:108233800-108239200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:108234000-108239000	Enhancers	Osteobl	bone
6	chr8:108235600-108239200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:108235600-108239800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:108235800-108239000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:108236400-108259000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:108236600-108259600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:108237000-108239600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:108237200-108239200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:108237800-108239000	Enhancers	NHLF	lung
14	chr8:108238000-108239800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:108238000-108240000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:108238200-108239000	Weak transcription	Brain Substantia Nigra	brain
17	chr8:108238200-108239200	Weak transcription	HSMMtube	muscle
18	chr8:108238200-108239800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:108238200-108240200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr8:108238200-108240200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:108238200-108241000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:108238200-108265200	Weak transcription	Ovary	ovary
23	chr8:108238400-108239800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:108238400-108240600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:108238600-108239600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:108238600-108239800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:108238600-108241800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:108238800-108239200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:108238800-108239200	Weak transcription	Fetal Lung	lung
30	chr8:108238800-108239600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:108238800-108239800	Enhancers	Brain Anterior Caudate	brain

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