Variant report

Variant	rs73701098
Chromosome Location	chr8:108350642-108350643
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr8:108350633-108350859	MCF10A-Er-Src	breast:	n/a	chr8:108350754-108350763 chr8:108350755-108350763 chr8:108350755-108350762
2	JUND	chr8:108350633-108350867	HepG2	liver:	n/a	chr8:108350754-108350763 chr8:108350753-108350764 chr8:108350755-108350763 chr8:108350755-108350762

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:108349228..108350761-chr8:108352462..108354445,2	K562	blood:
2	chr8:108349228..108351182-chr8:108352238..108354935,4	K562	blood:

Variant related genes	Relation type
ANGPT1	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12114632	1.00[AMR][1000 genomes]
rs12114634	1.00[AMR][1000 genomes]
rs41474548	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4451284	0.81[AFR][1000 genomes]
rs55875407	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56969075	0.81[AFR][1000 genomes]
rs58034973	0.90[AFR][1000 genomes]
rs60186919	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60876963	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73701084	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73701095	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73701096	0.90[AFR][1000 genomes]
rs73701097	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73702003	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73702004	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73702048	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7837271	1.00[AMR][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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv1027447	chr8:108335387-108365566	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108333600-108368800	Weak transcription	Fetal Kidney	kidney
2	chr8:108337800-108360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:108345200-108351800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:108345200-108356600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:108345200-108393200	Weak transcription	Aorta	Aorta
6	chr8:108345400-108351200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:108345600-108365600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:108345800-108355400	Weak transcription	Fetal Lung	lung
9	chr8:108345800-108357800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:108347400-108356000	Weak transcription	Ovary	ovary
11	chr8:108347600-108351400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:108347800-108351000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:108347800-108358600	Weak transcription	Adipose Nuclei	Adipose
14	chr8:108348000-108355200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:108349200-108353600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:108349200-108353800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:108349400-108351800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:108349800-108351200	Weak transcription	K562	blood
19	chr8:108349800-108351400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:108350200-108351400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:108350200-108351600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:108350400-108351200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:108350600-108351600	Enhancers	Osteobl	bone
24	chr8:108350600-108352200	Enhancers	NHDF-Ad	bronchial

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