Variant report

Variant	rs4133395
Chromosome Location	chr8:108314971-108314972
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:108312705..108315142-chr8:108317270..108319695,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10505105	0.93[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1433195	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs1433196	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs17295555	0.83[ASN][1000 genomes]
rs17296456	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs17296616	0.93[CHB][hapmap];0.93[JPT][hapmap]
rs17368764	0.93[CHB][hapmap];0.93[JPT][hapmap]
rs36036692	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41420946	0.93[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs55748473	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56134158	0.83[ASN][1000 genomes]
rs66602224	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7004172	0.88[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs72672522	0.85[ASN][1000 genomes]
rs7845763	0.86[AMR][1000 genomes];0.90[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108276600-108327600	Weak transcription	Aorta	Aorta
2	chr8:108282800-108321000	Weak transcription	Psoas Muscle	Psoas
3	chr8:108294200-108315800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:108296600-108323200	Weak transcription	Fetal Kidney	kidney
5	chr8:108304600-108326400	Weak transcription	Ovary	ovary
6	chr8:108306200-108321000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:108307600-108316000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:108307600-108325000	Weak transcription	Adipose Nuclei	Adipose
9	chr8:108312600-108315200	Strong transcription	Fetal Lung	lung
10	chr8:108312800-108315000	Strong transcription	K562	blood
11	chr8:108313200-108315000	Genic enhancers	Primary hematopoietic stem cells	blood
12	chr8:108313200-108316000	Enhancers	Osteobl	bone
13	chr8:108313200-108316200	Enhancers	Dnd41	blood
14	chr8:108313600-108315400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:108313600-108316000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:108313800-108315400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:108313800-108316400	Enhancers	NHDF-Ad	bronchial
18	chr8:108314000-108315200	Enhancers	NHLF	lung
19	chr8:108314000-108318600	Enhancers	Primary T cells from cord blood	blood
20	chr8:108314200-108315200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:108314200-108315200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:108314400-108315200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:108314400-108315200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:108314400-108316200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:108314600-108326200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:108314800-108315200	Flanking Active TSS	A549	lung
27	chr8:108314800-108317400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:108314800-108320400	Weak transcription	Fetal Thymus	thymus

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