Variant report

Variant	esv3385550
Chromosome Location	chr8:59479410-59479844
allele	n/a
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	FOXP2	chr8:59479344-59479744	SK-N-MC	brain:	n/a	chr8:59479533-59479545
2	MAFK	chr8:59479526-59479540	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:59479585-59479653	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59464567..59467546-chr8:59474944..59480287,7	MCF-7	breast:
2	chr8:59477541..59481590-chr8:59482411..59486258,4	K562	blood:

Variant related genes	Relation type
SDCBP	TF binding region
ENSG00000137575	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187178307	chr8:59479416-59479417	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs538583507	chr8:59479439-59479440	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs548776198	chr8:59479475-59479476	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs375682968	chr8:59479493-59479494	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs35981387	chr8:59479592-59479593	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs192999716	chr8:59479609-59479610	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs56264772	chr8:59479684-59479685	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200132985	chr8:59479685-59479686	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs200474274	chr8:59479687-59479688	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs201403162	chr8:59479691-59479692	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs556220499	chr8:59479756-59479757	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543005949	chr8:59479759-59479760	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554245724	chr8:59479765-59479766	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10504256	chr8:59479767-59479768	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75301335	chr8:59479786-59479787	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34370433	chr8:59479790-59479791	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59466800-59479800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:59467200-59486000	Weak transcription	Brain Angular Gyrus	brain
3	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:59468000-59479600	Weak transcription	HepG2	liver
5	chr8:59468000-59480000	Weak transcription	Brain Substantia Nigra	brain
6	chr8:59468200-59480000	Weak transcription	Fetal Kidney	kidney
7	chr8:59471600-59489200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:59472800-59515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:59473000-59486000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:59473000-59489400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:59473000-59493200	Weak transcription	Fetal Heart	heart
12	chr8:59473000-59493400	Weak transcription	Esophagus	oesophagus
13	chr8:59473000-59497400	Weak transcription	Stomach Mucosa	stomach
14	chr8:59473000-59506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:59473200-59480200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:59473200-59481000	Weak transcription	Colonic Mucosa	Colon
17	chr8:59473200-59481200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:59473200-59481400	Weak transcription	Fetal Intestine Small	intestine
19	chr8:59473200-59493400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:59473200-59508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:59473400-59480200	Weak transcription	Fetal Stomach	stomach
22	chr8:59473400-59492200	Weak transcription	Aorta	Aorta
23	chr8:59473400-59495400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:59473600-59481200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:59473800-59480800	Weak transcription	Brain Germinal Matrix	brain
26	chr8:59474000-59497000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:59474200-59480200	Weak transcription	GM12878-XiMat	blood
28	chr8:59475800-59480000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
29	chr8:59476000-59480000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:59476600-59480000	Weak transcription	Fetal Brain Male	brain
31	chr8:59476600-59481200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:59476600-59481400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:59476600-59505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:59476800-59479600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:59476800-59479600	Weak transcription	Ovary	ovary
36	chr8:59476800-59479600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:59476800-59480000	Weak transcription	Right Ventricle	heart
38	chr8:59476800-59480000	Weak transcription	NHLF	lung
39	chr8:59476800-59480800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:59476800-59480800	Weak transcription	Gastric	stomach
41	chr8:59476800-59482800	Strong transcription	HSMM	muscle
42	chr8:59476800-59485600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr8:59476800-59489400	Weak transcription	Psoas Muscle	Psoas
44	chr8:59476800-59490800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:59476800-59495400	Weak transcription	Pancreas	Pancrea
46	chr8:59476800-59500600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:59477000-59508200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:59477200-59480400	Strong transcription	Primary B cells from cord blood	blood
49	chr8:59477200-59489800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:59477200-59490600	Strong transcription	Primary monocytes fromperipheralblood	blood

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