Variant report

Variant	nsv1033078
Chromosome Location	chr9:11350249-12121365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62609117..62610638-chr9:11453391..11454911,2	K562	blood:
2	chr9:11687941..11690802-chr9:11691495..11694345,3	K562	blood:
3	chr9:12094328..12096426-chr9:12096756..12098736,2	K562	blood:
4	chr9:11701463..11703909-chr9:11703963..11706145,2	K562	blood:
5	chr9:11701463..11703909-chr9:11703963..11706145,2	K562	blood:
6	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:
7	chr9:11687941..11690802-chr9:11691495..11694345,3	K562	blood:
8	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:
9	chr9:12094328..12096426-chr9:12096756..12098736,2	K562	blood:
10	chr17:41381793..41383489-chr9:11453391..11454891,3	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRD-5	chr9:11834674-11834959	XLOC_007647
2	lnc-PTPRD-10	chr9:11824674-11824988	l_3733_chr9:11816028-11824988_testes
3	lnc-PTPRD-5	chr9:11822678-11822704	XLOC_007647
4	lnc-PTPRD-5	chr9:11829221-11829360	XLOC_007647
5	lnc-PTPRD-5	chr9:11834674-11834959	XLOC_007647
6	lnc-MPDZ-2	chr9:12116821-12116865	XLOC_007648
7	lnc-PTPRD-5	chr9:11826175-11826601	XLOC_007647
8	lnc-PTPRD-10	chr9:11819221-11819360	l_3733_chr9:11816028-11824988_testes
9	lnc-PTPRD-5	chr9:11829210-11829360	XLOC_007647
10	lnc-MPDZ-9	chr9:12106821-12106865	NONHSAT130219
11	lnc-MPDZ-2	chr9:12098714-12099015	XLOC_007648
12	lnc-PTPRD-10	chr9:11816029-11816601	l_3733_chr9:11816028-11824988_testes
13	lnc-MPDZ-2	chr9:12098660-12099015	XLOC_007648
14	lnc-PTPRD-5	chr9:11834674-11834988	XLOC_007647
15	lnc-PTPRD-5	chr9:11829221-11829360	XLOC_007647
16	lnc-MPDZ-2	chr9:12116821-12116865	XLOC_007648
17	lnc-MPDZ-9	chr9:12088660-12089015	NONHSAT130219

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions
ENSG00000133316	chromatin interactions
CUL5	miRNA target sites
CSF1	miRNA target sites
FLOT2	miRNA target sites

Extended variants
information (count: 10311 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:10311 , 50 per page) page: 1 2 3 4 5 6 7 ... 207

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557047837	chr9:11350253-11350254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574110852	chr9:11350268-11350269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115348541	chr9:11350318-11350319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386732656	chr9:11350336-11350337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183288505	chr9:11350376-11350377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187876477	chr9:11350385-11350386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116511128	chr9:11350395-11350396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139779896	chr9:11350402-11350403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569542146	chr9:11350409-11350410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547558700	chr9:11350417-11350418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7853253	chr9:11350491-11350492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548620250	chr9:11350502-11350503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77414091	chr9:11350558-11350559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534854522	chr9:11350562-11350563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375389484	chr9:11350565-11350566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571933684	chr9:11350576-11350577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375538412	chr9:11350587-11350588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537327069	chr9:11350602-11350603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190702788	chr9:11350619-11350620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150050599	chr9:11350657-11350658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144338706	chr9:11350683-11350684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183131297	chr9:11350727-11350728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572294893	chr9:11350732-11350733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541259595	chr9:11350768-11350769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10809433	chr9:11350783-11350784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577909784	chr9:11350805-11350806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543349833	chr9:11350846-11350847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10959736	chr9:11350888-11350889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528817410	chr9:11350951-11350952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548683545	chr9:11350956-11350957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558995932	chr9:11350957-11350958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10959737	chr9:11350972-11350973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551981739	chr9:11351016-11351017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148763524	chr9:11351061-11351062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114667217	chr9:11351067-11351068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142123612	chr9:11351072-11351073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567669115	chr9:11351174-11351175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536621742	chr9:11351205-11351206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147807742	chr9:11351222-11351223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112730479	chr9:11351310-11351311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73399489	chr9:11351324-11351325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369626916	chr9:11351332-11351333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540187264	chr9:11351376-11351377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539125496	chr9:11351382-11351383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559996533	chr9:11351396-11351397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557979481	chr9:11351411-11351412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570483680	chr9:11351423-11351424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577718710	chr9:11351432-11351433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187503681	chr9:11351448-11351449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112769146	chr9:11351469-11351470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	18511947	CNVD
Renal cell carcinoma	21215367	CNVD
Schizophrenia	23813976	CNVD
Type 2 diabetes	21526130	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	21215367	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11349400-11352800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:11351600-11351800	Enhancers	Brain Germinal Matrix	brain
3	chr9:11351800-11353600	Weak transcription	Brain Germinal Matrix	brain
4	chr9:11352200-11352800	Enhancers	Fetal Heart	heart
5	chr9:11352600-11353000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr9:11352800-11353000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:11353000-11353400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:11353000-11355600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr9:11353400-11356600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:11353600-11353800	Enhancers	Fetal Brain Male	brain
11	chr9:11353600-11354000	Enhancers	Brain Germinal Matrix	brain
12	chr9:11353800-11354800	Weak transcription	Fetal Brain Male	brain
13	chr9:11354000-11355200	Weak transcription	Brain Germinal Matrix	brain
14	chr9:11354800-11356200	Enhancers	Fetal Brain Male	brain
15	chr9:11355200-11356400	Enhancers	Brain Germinal Matrix	brain
16	chr9:11355600-11356200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr9:11355800-11356200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:11355800-11356600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:11356000-11356400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:11356000-11356400	Enhancers	Fetal Brain Female	brain
21	chr9:11366600-11367000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:11366800-11367000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:11367000-11370800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:11372800-11377200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:11374800-11375400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr9:11374800-11375600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr9:11374800-11375600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr9:11375000-11375400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr9:11375000-11375400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:11375000-11375600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr9:11377200-11377600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:11390400-11390800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr9:11401200-11401600	Active TSS	Fetal Brain Male	brain
34	chr9:11402400-11402800	Active TSS	Fetal Heart	heart
35	chr9:11413200-11413600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:11413200-11414600	ZNF genes & repeats	Spleen	Spleen
37	chr9:11413600-11413800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:11413600-11414000	ZNF genes & repeats	Pancreas	Pancrea
39	chr9:11414000-11421000	Weak transcription	Pancreas	Pancrea
40	chr9:11416800-11418200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:11417800-11425800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr9:11425800-11426000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr9:11426200-11426600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:11426600-11431800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:11427600-11428800	Enhancers	Fetal Heart	heart
46	chr9:11428800-11429200	Weak transcription	Fetal Heart	heart
47	chr9:11429200-11429400	Enhancers	Fetal Heart	heart
48	chr9:11429400-11432400	Weak transcription	Fetal Heart	heart
49	chr9:11431400-11431800	Enhancers	Fetal Brain Male	brain
50	chr9:11431600-11431800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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