Variant report

Variant	esv18159
Chromosome Location	chr9:8883454-8884212
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	E2F4	chr9:8883959-8884147	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr9:8883359-8883559	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr9:8883376-8883576	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000251699	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539991211	chr9:8883455-8883456	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs372660045	chr9:8883457-8883458	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs558408840	chr9:8883505-8883506	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs570356025	chr9:8883508-8883509	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs570344379	chr9:8883509-8883510	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs570984807	chr9:8883539-8883540	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs528455160	chr9:8883544-8883545	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs144817868	chr9:8883547-8883548	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs573927782	chr9:8883706-8883707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs118147888	chr9:8883714-8883715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535452374	chr9:8883742-8883743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556477088	chr9:8883783-8883784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73433175	chr9:8883829-8883830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117140057	chr9:8883830-8883831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545166263	chr9:8883831-8883832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535410402	chr9:8883842-8883843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563178666	chr9:8883863-8883864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530707603	chr9:8883868-8883869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542561135	chr9:8883877-8883878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565792407	chr9:8883892-8883893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560853431	chr9:8883955-8883956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148406887	chr9:8883974-8883975	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs13287579	chr9:8884015-8884016	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs572471586	chr9:8884020-8884021	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs557659569	chr9:8884025-8884026	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs368744964	chr9:8884031-8884032	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs532137671	chr9:8884035-8884036	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs551992849	chr9:8884061-8884062	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs67163376	chr9:8884063-8884064	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537641672	chr9:8884064-8884065	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs556053246	chr9:8884070-8884071	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs577501079	chr9:8884075-8884076	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs567879046	chr9:8884127-8884128	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs117824097	chr9:8884168-8884169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553119535	chr9:8884186-8884187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8879600-8886200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr9:8879600-8887000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:8880000-8891600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:8880200-8891800	Weak transcription	Brain Substantia Nigra	brain
5	chr9:8882800-8884400	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr9:8883000-8884000	Enhancers	Fetal Intestine Small	intestine
7	chr9:8883000-8884400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr9:8883200-8884000	Enhancers	Colonic Mucosa	Colon
9	chr9:8883200-8884200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:8883400-8883800	Weak transcription	Fetal Intestine Large	intestine
11	chr9:8883400-8884200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr9:8883800-8884000	Enhancers	Fetal Intestine Large	intestine
13	chr9:8884000-8886800	Weak transcription	Fetal Intestine Small	intestine
14	chr9:8884000-8887200	Weak transcription	Colonic Mucosa	Colon
15	chr9:8884000-8887200	Weak transcription	Fetal Intestine Large	intestine
16	chr9:8884200-8884400	Enhancers	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links