Variant report

Variant	rs55748473
Chromosome Location	chr8:108323713-108323714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:108323023..108324851-chr8:108334237..108336849,2	K562	blood:
2	chr8:108318722..108321630-chr8:108322464..108324818,2	MCF-7	breast:
3	chr8:108323328..108325135-chr8:108339439..108342402,2	MCF-7	breast:
4	chr8:108304086..108305949-chr8:108321318..108324299,2	K562	blood:
5	chr8:108320769..108323724-chr8:108344479..108346213,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10505105	0.83[ASN][1000 genomes]
rs17295555	0.83[ASN][1000 genomes]
rs36036692	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4133395	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41420946	0.85[ASN][1000 genomes]
rs56134158	0.83[ASN][1000 genomes]
rs66602224	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7004172	0.86[ASN][1000 genomes]
rs72672522	0.85[ASN][1000 genomes]
rs7845763	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
11	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
12	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
13	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
14	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108276600-108327600	Weak transcription	Aorta	Aorta
2	chr8:108304600-108326400	Weak transcription	Ovary	ovary
3	chr8:108307600-108325000	Weak transcription	Adipose Nuclei	Adipose
4	chr8:108314600-108326200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:108315200-108326200	Weak transcription	Fetal Lung	lung
6	chr8:108321400-108324800	Weak transcription	Fetal Thymus	thymus
7	chr8:108323000-108324600	Weak transcription	Dnd41	blood
8	chr8:108323000-108324800	Weak transcription	A549	lung
9	chr8:108323000-108326400	Weak transcription	Right Atrium	heart
10	chr8:108323000-108326600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:108323000-108328000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:108323000-108349000	Weak transcription	HSMM	muscle
13	chr8:108323200-108324400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:108323200-108324400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:108323200-108324400	Weak transcription	NHLF	lung
16	chr8:108323200-108324600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:108323200-108326200	Weak transcription	Osteobl	bone
18	chr8:108323200-108326400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:108323200-108327400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:108323400-108324400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:108323400-108324600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:108323400-108324800	Weak transcription	NHDF-Ad	bronchial
23	chr8:108323400-108327000	Weak transcription	Fetal Kidney	kidney
24	chr8:108323400-108327800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:108323600-108323800	Enhancers	K562	blood
26	chr8:108323600-108324400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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