Variant report

Variant	nsv1029341
Chromosome Location	chr9:11459329-11631105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2797 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2797 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7860082	chr9:11459329-11459330	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34259506	chr9:11459342-11459343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531362007	chr9:11459372-11459373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547859426	chr9:11459381-11459382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6474657	chr9:11459394-11459395	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527405699	chr9:11459400-11459401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10959826	chr9:11459410-11459411	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs561062097	chr9:11459414-11459415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371835941	chr9:11459431-11459432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185439823	chr9:11459440-11459441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556862903	chr9:11459450-11459451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7860209	chr9:11459451-11459452	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190544931	chr9:11459463-11459464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147343798	chr9:11459467-11459468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555972242	chr9:11459477-11459478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572446142	chr9:11459479-11459480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541543116	chr9:11459507-11459508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558245984	chr9:11459534-11459535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576055873	chr9:11459537-11459538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77221259	chr9:11459587-11459588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10116301	chr9:11459601-11459602	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562834108	chr9:11459620-11459621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142722529	chr9:11459642-11459643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151006093	chr9:11459644-11459645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76721446	chr9:11459655-11459656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532966896	chr9:11459688-11459689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533296560	chr9:11459704-11459705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563835832	chr9:11459769-11459770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533603413	chr9:11459797-11459798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550093784	chr9:11459804-11459805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374335423	chr9:11459819-11459820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549913940	chr9:11459856-11459857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570199238	chr9:11459861-11459862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535796429	chr9:11459879-11459880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549654011	chr9:11459892-11459893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139590775	chr9:11459903-11459904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181005879	chr9:11459906-11459907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558333282	chr9:11459910-11459911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114776947	chr9:11459954-11459955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184428694	chr9:11459955-11459956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372109101	chr9:11459976-11459977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149718727	chr9:11459995-11459996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570340064	chr9:11471016-11471017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150123026	chr9:11471019-11471020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549708027	chr9:11471032-11471033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569625583	chr9:11471060-11471061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117070587	chr9:11471077-11471078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10959843	chr9:11471095-11471096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145507426	chr9:11471111-11471112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534747645	chr9:11471131-11471132	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Disorders of sex development	21048976	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
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	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
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	18511947	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11458200-11460000	Enhancers	Fetal Brain Male	brain
2	chr9:11458400-11459800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr9:11459000-11459800	Weak transcription	Fetal Brain Female	brain
4	chr9:11459800-11460000	Enhancers	Fetal Brain Female	brain
5	chr9:11471000-11471400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:11471400-11474200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:11472400-11472600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:11481800-11482200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:11482200-11485800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:11485800-11486200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:11485800-11487400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:11486200-11490600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:11487400-11489000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:11489000-11492200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:11490600-11490800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:11491200-11492000	Enhancers	Fetal Heart	heart
17	chr9:11492000-11492800	Weak transcription	Fetal Heart	heart
18	chr9:11492800-11493000	Enhancers	Fetal Heart	heart
19	chr9:11495200-11495600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr9:11495200-11495600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr9:11495400-11495800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr9:11499400-11499800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:11499600-11501400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:11501000-11501600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:11503800-11504200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr9:11504000-11504800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr9:11504200-11504600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr9:11504200-11505000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:11504600-11505800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:11521800-11522200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr9:11534600-11535000	Enhancers	Fetal Brain Male	brain
32	chr9:11535000-11538200	Weak transcription	Fetal Brain Male	brain
33	chr9:11537800-11538800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:11538200-11538600	Enhancers	Fetal Brain Male	brain
35	chr9:11538600-11545600	Weak transcription	Fetal Brain Male	brain
36	chr9:11545600-11547000	Enhancers	Fetal Brain Male	brain
37	chr9:11545800-11546600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr9:11546000-11546800	Enhancers	Fetal Brain Female	brain
39	chr9:11546400-11546800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr9:11546600-11547600	Enhancers	Brain Germinal Matrix	brain
41	chr9:11549200-11550800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:11549200-11554400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:11553200-11553600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr9:11553200-11553600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr9:11553400-11553800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr9:11558200-11559000	Enhancers	Fetal Brain Male	brain
47	chr9:11559000-11560000	Weak transcription	Fetal Brain Male	brain
48	chr9:11560000-11560200	Enhancers	Fetal Brain Male	brain
49	chr9:11561800-11562800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:11567000-11567400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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