Variant report

Variant	rs73271226
Chromosome Location	chr8:62630241-62630242
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	CEBPB	chr8:62630133-62630381	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:62614589..62616829-chr8:62629652..62632067,2	MCF-7	breast:
2	chr8:62629746..62631906-chr8:62636531..62638142,2	MCF-7	breast:
3	chr8:62625349..62627076-chr8:62628888..62631285,2	MCF-7	breast:

Variant related genes	Relation type
ASPH	TF binding region

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

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

rs_ID	r²[population]
rs73267211	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267217	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267220	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267238	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267240	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267292	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267296	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269207	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269256	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269263	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269267	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269273	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269299	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271215	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271232	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271246	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271250	0.91[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:4 , 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	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
3	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
4	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62627600-62633000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:62627800-62634200	Weak transcription	Aorta	Aorta
3	chr8:62628000-62630600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:62628000-62630800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:62628000-62630800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:62628000-62630800	Weak transcription	NH-A	brain
7	chr8:62628000-62631000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:62628000-62631000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:62628000-62631000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:62628000-62631400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:62628000-62631400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:62628000-62631800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:62628000-62632000	Weak transcription	Liver	Liver
14	chr8:62628000-62632000	Weak transcription	HSMM	muscle
15	chr8:62628000-62632400	Weak transcription	HSMMtube	muscle
16	chr8:62628000-62633000	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:62628000-62633600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:62628000-62634000	Weak transcription	Esophagus	oesophagus
19	chr8:62628000-62634000	Weak transcription	Gastric	stomach
20	chr8:62628000-62634200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:62628000-62634200	Weak transcription	Right Ventricle	heart
22	chr8:62628200-62630400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:62628200-62630600	Weak transcription	Adipose Nuclei	Adipose
24	chr8:62628200-62630800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:62628200-62630800	Weak transcription	NHEK	skin
26	chr8:62628200-62631200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:62628200-62631800	Weak transcription	K562	blood
28	chr8:62628200-62632000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:62628200-62633600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:62628200-62634000	Weak transcription	Left Ventricle	heart
31	chr8:62628200-62634000	Weak transcription	Pancreas	Pancrea
32	chr8:62628200-62634200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:62628400-62630600	Weak transcription	NHLF	lung
34	chr8:62628400-62630600	Weak transcription	Osteobl	bone
35	chr8:62628400-62630800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:62628400-62630800	Weak transcription	Stomach Mucosa	stomach
37	chr8:62628400-62631400	Weak transcription	HMEC	breast
38	chr8:62628400-62631600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:62628400-62634000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:62628400-62634000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:62628600-62630800	Weak transcription	NHDF-Ad	bronchial
42	chr8:62629200-62633000	Weak transcription	HepG2	liver
43	chr8:62629400-62634000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr8:62629400-62634200	Weak transcription	Fetal Intestine Small	intestine
45	chr8:62629600-62634200	Enhancers	Hela-S3	cervix
46	chr8:62629800-62638400	Flanking Active TSS	A549	lung
47	chr8:62630000-62631400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr8:62630000-62636000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr8:62630200-62634200	Enhancers	Muscle Satellite Cultured Cells	--

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