Variant report

Variant	esv3450410
Chromosome Location	chr9:97707761-97708103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97701079..97703589-chr9:97706608..97709987,3	K562	blood:
2	chr9:97707270..97710081-chr9:97771865..97774165,2	MCF-7	breast:
3	chr9:97705028..97708373-chr9:97712874..97716107,3	MCF-7	breast:
4	chr9:97706531..97708099-chr9:97709045..97711168,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7871699	chr9:97707767-97707768	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113158083	chr9:97707798-97707799	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568224055	chr9:97707812-97707813	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536652903	chr9:97707848-97707849	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs140291727	chr9:97707876-97707877	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs368411401	chr9:97707878-97707879	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs143130326	chr9:97707925-97707926	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs569703581	chr9:97707940-97707941	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs566161657	chr9:97707948-97707949	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs80294607	chr9:97707956-97707957	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs75984188	chr9:97707976-97707977	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs187196478	chr9:97708028-97708029	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs16911862	chr9:97708031-97708032	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553641411	chr9:97708034-97708035	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574986447	chr9:97708065-97708066	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192131521	chr9:97708099-97708100	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145321005	chr9:97708100-97708101	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76729942	chr9:97708103-97708104	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97670600-97766000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:97682000-97713800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:97684800-97711000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:97685200-97714600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:97687000-97714000	Weak transcription	Thymus	Thymus
6	chr9:97691800-97710800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr9:97692200-97713000	Weak transcription	Primary T cells from cord blood	blood
8	chr9:97693400-97712600	Weak transcription	Gastric	stomach
9	chr9:97695600-97709000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:97700200-97707800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:97700200-97708200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:97700200-97714600	Weak transcription	Fetal Stomach	stomach
13	chr9:97700200-97718600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:97703600-97710600	Weak transcription	Placenta	Placenta
15	chr9:97703800-97707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:97703800-97712400	Weak transcription	Spleen	Spleen
17	chr9:97703800-97713000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr9:97704000-97707800	Weak transcription	Aorta	Aorta
19	chr9:97704000-97707800	Weak transcription	Fetal Muscle Leg	muscle
20	chr9:97704000-97707800	Weak transcription	Ovary	ovary
21	chr9:97704000-97707800	Weak transcription	Right Atrium	heart
22	chr9:97704000-97709000	Weak transcription	Right Ventricle	heart
23	chr9:97704000-97710000	Weak transcription	Left Ventricle	heart
24	chr9:97704000-97710800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr9:97704000-97711200	Weak transcription	Adipose Nuclei	Adipose
26	chr9:97704000-97712400	Weak transcription	Pancreas	Pancrea
27	chr9:97704000-97712600	Weak transcription	Lung	lung
28	chr9:97704000-97713000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr9:97704400-97707800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:97704400-97712800	Weak transcription	Fetal Lung	lung
31	chr9:97704800-97707800	Weak transcription	Fetal Intestine Small	intestine
32	chr9:97704800-97712800	Weak transcription	HUVEC	blood vessel
33	chr9:97705000-97712400	Weak transcription	Liver	Liver
34	chr9:97705200-97707800	Weak transcription	HepG2	liver
35	chr9:97706200-97708400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr9:97706200-97709000	Enhancers	Osteobl	bone
37	chr9:97706200-97709200	Enhancers	NHLF	lung
38	chr9:97706400-97708800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:97706400-97708800	Enhancers	HSMMtube	muscle
40	chr9:97706400-97709000	Enhancers	Hela-S3	cervix
41	chr9:97706400-97709200	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr9:97706600-97708400	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr9:97706600-97709200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:97706600-97709200	Enhancers	HMEC	breast
45	chr9:97706800-97707800	Enhancers	HSMM	muscle
46	chr9:97706800-97708800	Enhancers	Fetal Intestine Large	intestine
47	chr9:97706800-97709000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr9:97706800-97709000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:97707000-97708800	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr9:97707000-97713400	Weak transcription	Small Intestine	intestine

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