Variant report

Variant	rs7837292
Chromosome Location	chr8:49231670-49231671
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:49231010..49232106-chr8:49667714..49668868,4	MCF-7	breast:
2	chr8:49231222..49233241-chr8:49427300..49430063,3	MCF-7	breast:
3	chr8:49101995..49104424-chr8:49230662..49232530,2	MCF-7	breast:
4	chr8:49231421..49235901-chr8:49831866..49835382,4	MCF-7	breast:
5	chr8:49231028..49232049-chr8:49837754..49838644,8	MCF-7	breast:
6	chr8:49231670..49234533-chr8:49280162..49283024,2	MCF-7	breast:
7	chr8:49230639..49234892-chr8:49832465..49836593,5	MCF-7	breast:
8	chr8:49231059..49231908-chr8:49838295..49838841,2	K562	blood:
9	chr8:49229484..49233078-chr8:49318380..49320785,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253140	Chromatin interaction
ENSG00000019549	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1502651	0.94[EUR][1000 genomes]
rs1510929	0.94[EUR][1000 genomes]
rs1510930	0.94[EUR][1000 genomes]
rs16937035	0.94[EUR][1000 genomes]
rs16937172	0.94[EUR][1000 genomes]
rs17623020	0.94[EUR][1000 genomes]
rs56038738	0.94[EUR][1000 genomes]
rs6983842	0.94[EUR][1000 genomes]
rs6996130	0.94[EUR][1000 genomes]
rs7012467	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7013123	0.94[EUR][1000 genomes]
rs7013144	0.94[EUR][1000 genomes]
rs73678289	0.94[EUR][1000 genomes]
rs7813028	0.94[EUR][1000 genomes]
rs7813928	0.94[EUR][1000 genomes]
rs7815783	0.94[EUR][1000 genomes]
rs7838494	0.94[EUR][1000 genomes]
rs7843782	0.94[EUR][1000 genomes]
rs9643364	0.94[EUR][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	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1018242	chr8:49190915-49243694	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv539600	chr8:49190915-49243694	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49227800-49233600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:49228000-49234200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:49228600-49233400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:49228800-49233200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:49230400-49232800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:49230800-49232000	Enhancers	Stomach Mucosa	stomach
7	chr8:49230800-49232000	Flanking Active TSS	Hela-S3	cervix
8	chr8:49230800-49232200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr8:49230800-49232200	Enhancers	Fetal Brain Male	brain
10	chr8:49231000-49231800	Flanking Active TSS	Fetal Lung	lung
11	chr8:49231000-49232000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:49231000-49232000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:49231000-49232000	Flanking Active TSS	Osteobl	bone
14	chr8:49231000-49232200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:49231000-49232200	Bivalent Enhancer	Fetal Heart	heart
16	chr8:49231000-49232400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:49231200-49231800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:49231200-49232000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:49231200-49232000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:49231200-49232000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:49231200-49232000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:49231200-49232000	Enhancers	Dnd41	blood
23	chr8:49231200-49232000	Flanking Active TSS	HSMM	muscle
24	chr8:49231200-49232000	Flanking Active TSS	NH-A	brain
25	chr8:49231200-49232000	Flanking Active TSS	NHEK	skin
26	chr8:49231200-49232200	Flanking Active TSS	HMEC	breast
27	chr8:49231400-49231800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr8:49231400-49231800	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:49231400-49231800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr8:49231400-49231800	Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr8:49231400-49231800	Active TSS	Primary B cells from cord blood	blood
32	chr8:49231400-49231800	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr8:49231400-49231800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr8:49231400-49231800	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr8:49231400-49231800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:49231400-49231800	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr8:49231400-49231800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:49231400-49231800	Active TSS	Colon Smooth Muscle	Colon
39	chr8:49231400-49231800	Active TSS	Duodenum Mucosa	Duodenum
40	chr8:49231400-49231800	Active TSS	Fetal Kidney	kidney
41	chr8:49231400-49231800	Flanking Active TSS	Fetal Muscle Trunk	muscle
42	chr8:49231400-49231800	Flanking Active TSS	Placenta	Placenta
43	chr8:49231400-49231800	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr8:49231400-49231800	Active TSS	Thymus	Thymus
45	chr8:49231400-49231800	Enhancers	A549	lung
46	chr8:49231400-49231800	Active TSS	GM12878-XiMat	blood
47	chr8:49231400-49231800	Bivalent/Poised TSS	HepG2	liver
48	chr8:49231400-49231800	Active TSS	K562	blood
49	chr8:49231400-49232000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr8:49231400-49232000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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