Variant report

Variant	rs73327518
Chromosome Location	chr8:119392499-119392500
allele	C/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	MAZ	chr8:119391880-119392579	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
SAMD12	TF binding region

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

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

rs_ID	r²[population]
rs16890916	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16890917	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16890925	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59611113	0.87[AMR][1000 genomes]
rs73325686	0.87[AMR][1000 genomes]
rs73325687	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73325688	0.87[AMR][1000 genomes]
rs73325692	0.87[AMR][1000 genomes]
rs73325697	0.87[AMR][1000 genomes]
rs73325699	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73327521	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327539	0.85[AMR][1000 genomes]
rs73327541	0.85[AMR][1000 genomes]
rs73709942	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs744079	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs744082	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs747033	0.96[AFR][1000 genomes];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	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119323000-119394000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:119359600-119398600	Weak transcription	Lung	lung
3	chr8:119362600-119395400	Weak transcription	Pancreas	Pancrea
4	chr8:119362800-119398200	Weak transcription	GM12878-XiMat	blood
5	chr8:119366200-119394000	Weak transcription	Gastric	stomach
6	chr8:119381200-119393600	Weak transcription	Fetal Intestine Small	intestine
7	chr8:119382800-119395200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:119383000-119399400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:119384200-119392600	Weak transcription	Esophagus	oesophagus
10	chr8:119385200-119399000	Weak transcription	Brain Angular Gyrus	brain
11	chr8:119386200-119395200	Weak transcription	Fetal Intestine Large	intestine
12	chr8:119386600-119393600	Weak transcription	Liver	Liver
13	chr8:119387200-119399800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:119388000-119394000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:119389400-119392800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:119389600-119394400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:119390000-119393800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:119390400-119404000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:119391400-119392800	Enhancers	NHEK	skin
20	chr8:119391400-119393000	Enhancers	Hela-S3	cervix
21	chr8:119391400-119394400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:119391600-119392600	Enhancers	A549	lung
23	chr8:119391600-119392800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:119391600-119399000	Weak transcription	Aorta	Aorta
25	chr8:119391800-119392600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:119391800-119392600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:119391800-119392600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:119391800-119392600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:119391800-119392600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:119391800-119392600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:119391800-119392800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:119391800-119392800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:119391800-119392800	Enhancers	HMEC	breast
34	chr8:119391800-119392800	Enhancers	NHDF-Ad	bronchial
35	chr8:119391800-119392800	Enhancers	NHLF	lung
36	chr8:119391800-119393000	Enhancers	Osteobl	bone
37	chr8:119391800-119397000	Enhancers	HUVEC	blood vessel
38	chr8:119392000-119392600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:119392000-119392600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:119392000-119392800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:119392000-119392800	Enhancers	NH-A	brain
42	chr8:119392200-119392600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:119392200-119392600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:119392200-119392600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:119392200-119392800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr8:119392200-119392800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:119392400-119392600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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