Variant report

Variant	esv3326374
Chromosome Location	chr9:6614023-6614404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557930890	chr9:6614023-6614024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576184930	chr9:6614032-6614033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149528835	chr9:6614041-6614042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143186555	chr9:6614054-6614055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112526567	chr9:6614056-6614057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117035473	chr9:6614060-6614061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541317567	chr9:6614078-6614079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7049056	chr9:6614084-6614085	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs112620305	chr9:6614107-6614108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7034327	chr9:6614112-6614113	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115088554	chr9:6614114-6614115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563473375	chr9:6614116-6614117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568114300	chr9:6614131-6614132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138178174	chr9:6614141-6614142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549585360	chr9:6614153-6614154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142804002	chr9:6614161-6614162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529195990	chr9:6614184-6614185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550653382	chr9:6614193-6614194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191486453	chr9:6614196-6614197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10117232	chr9:6614229-6614230	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs562010059	chr9:6614247-6614248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112511855	chr9:6614261-6614262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140091301	chr9:6614277-6614278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537116101	chr9:6614280-6614281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78727600	chr9:6614302-6614303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189126818	chr9:6614309-6614310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377613304	chr9:6614336-6614337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541605444	chr9:6614391-6614392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553439006	chr9:6614401-6614402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Developmental delay	21147756	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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	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
Medulloblastoma	16783165	CNVD
Dyslexia	22102821	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6595000-6616800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr9:6598600-6626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:6601000-6617000	Weak transcription	Fetal Brain Male	brain
4	chr9:6602000-6615400	Weak transcription	Placenta	Placenta
5	chr9:6602400-6617600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:6605200-6632800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:6605600-6625600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:6606000-6617400	Weak transcription	GM12878-XiMat	blood
9	chr9:6606000-6617600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:6606800-6617600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr9:6607000-6617600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr9:6607400-6621400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:6610800-6618800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:6611400-6614600	Weak transcription	HepG2	liver
15	chr9:6612200-6614600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr9:6612200-6616400	Weak transcription	Brain Anterior Caudate	brain
17	chr9:6612200-6617800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr9:6612400-6614800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr9:6612400-6616000	Weak transcription	Brain Germinal Matrix	brain
20	chr9:6612400-6621800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:6612400-6624000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr9:6612600-6614200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:6612600-6614600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:6612600-6616000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:6612600-6616200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:6612600-6616200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr9:6612600-6617200	Weak transcription	Brain Angular Gyrus	brain
28	chr9:6614000-6620400	Strong transcription	Liver	Liver
29	chr9:6614200-6615200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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