Variant report

Variant	rs73271246
Chromosome Location	chr8:62635057-62635058
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:62632932..62635885-chr8:62641235..62644837,4	K562	blood:
2	chr8:62626657..62629000-chr8:62632414..62635217,2	MCF-7	breast:
3	chr8:62632882..62635609-chr8:62660140..62662461,2	K562	blood:

Variant related genes	Relation type
ENSG00000198363	Chromatin interaction
ENSG00000264408	Chromatin interaction

Extended variants
information (count: 24 )
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]
rs73269273	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]
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: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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62629800-62638400	Flanking Active TSS	A549	lung
2	chr8:62630000-62636000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:62630400-62635600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:62630600-62635600	Enhancers	NHLF	lung
5	chr8:62630800-62635600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:62630800-62635800	Enhancers	NHDF-Ad	bronchial
7	chr8:62631000-62635600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:62631200-62636000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:62631600-62635200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:62631800-62636000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr8:62631800-62638000	Enhancers	K562	blood
12	chr8:62633000-62636000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:62633400-62635400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:62633600-62635400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:62633600-62635400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:62633600-62635400	Enhancers	HMEC	breast
17	chr8:62633600-62635400	Enhancers	NHEK	skin
18	chr8:62633800-62635200	Enhancers	HSMM	muscle
19	chr8:62633800-62635600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:62634000-62635200	Enhancers	Stomach Smooth Muscle	stomach
21	chr8:62634000-62635600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:62634000-62635600	Enhancers	Fetal Heart	heart
23	chr8:62634000-62635600	Enhancers	Pancreas	Pancrea
24	chr8:62634000-62635600	Enhancers	Right Atrium	heart
25	chr8:62634000-62635600	Enhancers	HepG2	liver
26	chr8:62634000-62635800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:62634000-62635800	Enhancers	Fetal Intestine Large	intestine
28	chr8:62634000-62635800	Enhancers	Placenta	Placenta
29	chr8:62634000-62635800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr8:62634000-62636000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr8:62634200-62635600	Enhancers	Fetal Intestine Small	intestine
32	chr8:62634200-62635600	Enhancers	Fetal Lung	lung
33	chr8:62634200-62635600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr8:62634200-62635800	Flanking Active TSS	Hela-S3	cervix
35	chr8:62634400-62635200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr8:62634400-62635400	Weak transcription	Spleen	Spleen
37	chr8:62634600-62635600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:62634600-62636000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr8:62634600-62636000	Enhancers	Osteobl	bone
40	chr8:62634800-62635200	Weak transcription	Colonic Mucosa	Colon
41	chr8:62634800-62636400	Enhancers	Adipose Nuclei	Adipose
42	chr8:62634800-62643600	Weak transcription	Stomach Mucosa	stomach
43	chr8:62635000-62635800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:62635000-62637200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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