Variant report

Variant	rs73269273
Chromosome Location	chr8:62612691-62612692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62612675..62615533-chr8:62623174..62625946,2	MCF-7	breast:
2	chr8:62607580..62609927-chr8:62611220..62613385,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs73267211	1.00[AMR][1000 genomes]
rs73267217	1.00[AMR][1000 genomes]
rs73267220	1.00[AMR][1000 genomes]
rs73267238	1.00[AMR][1000 genomes]
rs73267240	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271226	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271257	1.00[AMR][1000 genomes]
rs73271263	1.00[AMR][1000 genomes]
rs73271272	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:62590800-62612800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:62603000-62612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:62603000-62612800	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:62603000-62613600	Weak transcription	Fetal Lung	lung
6	chr8:62604200-62614000	Transcr. at gene 5' and 3'	A549	lung
7	chr8:62605800-62612800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:62606000-62613000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:62607000-62612800	Weak transcription	HMEC	breast
10	chr8:62607200-62619000	Weak transcription	NHEK	skin
11	chr8:62608600-62613800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:62609000-62619800	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:62609400-62613000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:62610000-62613200	Enhancers	Ovary	ovary
15	chr8:62610000-62621200	Weak transcription	Brain Anterior Caudate	brain
16	chr8:62610000-62624400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:62610200-62614400	Enhancers	Adipose Nuclei	Adipose
18	chr8:62610400-62613400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:62610400-62620000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:62610600-62612800	Enhancers	NHDF-Ad	bronchial
21	chr8:62610600-62613800	Enhancers	HepG2	liver
22	chr8:62610600-62614400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:62610800-62613600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:62611000-62615600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr8:62611200-62612800	Weak transcription	Brain Angular Gyrus	brain
26	chr8:62611200-62613000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:62611400-62612800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:62611400-62612800	Enhancers	Gastric	stomach
29	chr8:62611400-62614000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:62611400-62614000	Enhancers	NH-A	brain
31	chr8:62611400-62619400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr8:62611600-62613400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:62611600-62614000	Enhancers	Fetal Thymus	thymus
34	chr8:62611800-62613200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:62611800-62613400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:62611800-62618600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:62612000-62613800	Enhancers	Primary B cells from cord blood	blood
38	chr8:62612200-62613000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:62612200-62613000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:62612200-62613000	Enhancers	Pancreas	Pancrea
41	chr8:62612200-62613200	Enhancers	Thymus	Thymus
42	chr8:62612200-62613800	Enhancers	Psoas Muscle	Psoas
43	chr8:62612200-62613800	Enhancers	Right Atrium	heart
44	chr8:62612200-62613800	Enhancers	Right Ventricle	heart
45	chr8:62612200-62614400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:62612400-62612800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:62612400-62612800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr8:62612400-62612800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr8:62612400-62613000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:62612400-62613000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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