Variant report

Variant	nsv831509
Chromosome Location	chr9:11702977-11887425
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:2)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:11701463..11703909-chr9:11703963..11706145,2	K562	blood:
2	chr9:11701463..11703909-chr9:11703963..11706145,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRD-5	chr9:11829210-11829360	XLOC_007647
2	lnc-PTPRD-5	chr9:11826175-11826601	XLOC_007647
3	lnc-PTPRD-5	chr9:11834674-11834959	XLOC_007647
4	lnc-PTPRD-10	chr9:11819221-11819360	l_3733_chr9:11816028-11824988_testes
5	lnc-PTPRD-10	chr9:11816029-11816601	l_3733_chr9:11816028-11824988_testes
6	lnc-PTPRD-5	chr9:11834674-11834959	XLOC_007647
7	lnc-PTPRD-5	chr9:11829221-11829360	XLOC_007647
8	lnc-PTPRD-10	chr9:11824674-11824988	l_3733_chr9:11816028-11824988_testes
9	lnc-PTPRD-5	chr9:11834674-11834988	XLOC_007647
10	lnc-PTPRD-5	chr9:11829221-11829360	XLOC_007647
11	lnc-PTPRD-5	chr9:11822678-11822704	XLOC_007647

No data

Variant related genes	Relation type
FLOT2	miRNA target sites
CSF1	miRNA target sites
CUL5	miRNA target sites

Extended variants
information (count: 1824 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1824 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182134328	chr9:11703079-11703080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370010204	chr9:11703096-11703097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545008821	chr9:11703101-11703102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564903817	chr9:11703108-11703109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185667168	chr9:11703110-11703111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189328302	chr9:11703111-11703112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117227356	chr9:11703163-11703164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10960108	chr9:11703184-11703185	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546837469	chr9:11703188-11703189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566610126	chr9:11703201-11703202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528221157	chr9:11703202-11703203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180795193	chr9:11703218-11703219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12346700	chr9:11703223-11703224	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185800435	chr9:11703233-11703234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374715632	chr9:11703297-11703298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569197201	chr9:11703301-11703302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537859243	chr9:11703311-11703312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12342491	chr9:11703343-11703344	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567494014	chr9:11703355-11703356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148441498	chr9:11703375-11703376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80307366	chr9:11703378-11703379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572954341	chr9:11703388-11703389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372869451	chr9:11703439-11703440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545099765	chr9:11703467-11703468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150940128	chr9:11703486-11703487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141981714	chr9:11703492-11703493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190317971	chr9:11703515-11703516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544656514	chr9:11703516-11703517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144166081	chr9:11703517-11703518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147853106	chr9:11703530-11703531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530360715	chr9:11703542-11703543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10960109	chr9:11703543-11703544	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs181126580	chr9:11703562-11703563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7871485	chr9:11703573-11703574	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552210624	chr9:11703584-11703585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569254752	chr9:11703599-11703600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531725274	chr9:11703611-11703612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548332390	chr9:11703615-11703616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567538599	chr9:11703726-11703727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141391074	chr9:11703728-11703729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553328420	chr9:11703732-11703733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566640478	chr9:11703751-11703752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560841495	chr9:11703834-11703835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547887476	chr9:11703843-11703844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558577055	chr9:11703856-11703857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs55833444	chr9:11703866-11703867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544187252	chr9:11703877-11703878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs56318386	chr9:11703892-11703893	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574116670	chr9:11703901-11703902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114075022	chr9:11703927-11703928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11700800-11704400	Weak transcription	Brain Angular Gyrus	brain
2	chr9:11701400-11704600	Weak transcription	Fetal Brain Female	brain
3	chr9:11701800-11704800	Enhancers	Fetal Brain Male	brain
4	chr9:11702000-11703600	Enhancers	Brain Cingulate Gyrus	brain
5	chr9:11702000-11703800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr9:11702400-11703200	Enhancers	Brain Substantia Nigra	brain
7	chr9:11702800-11703800	Weak transcription	Brain Hippocampus Middle	brain
8	chr9:11703200-11703600	Weak transcription	Brain Substantia Nigra	brain
9	chr9:11703600-11704000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr9:11703600-11705000	Enhancers	Brain Substantia Nigra	brain
11	chr9:11703800-11705000	Enhancers	Brain Hippocampus Middle	brain
12	chr9:11703800-11705000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr9:11704000-11704800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:11704000-11705000	Enhancers	Brain Cingulate Gyrus	brain
15	chr9:11704000-11705200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr9:11704200-11705000	Enhancers	Brain Anterior Caudate	brain
17	chr9:11704400-11704800	Enhancers	Brain Angular Gyrus	brain
18	chr9:11704400-11705000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:11704600-11705000	Enhancers	Fetal Brain Female	brain
20	chr9:11705000-11707000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:11705200-11706400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:11705600-11706000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr9:11706400-11708800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:11707000-11708200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:11728600-11729400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr9:11728800-11729200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr9:11729000-11729400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr9:11743000-11743800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:11748800-11750000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:11775800-11776400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr9:11779600-11780800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:11788400-11788600	Enhancers	Pancreas	Pancrea
33	chr9:11795000-11795400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:11806000-11806600	Enhancers	Fetal Heart	heart
35	chr9:11812600-11813000	Enhancers	Fetal Brain Male	brain
36	chr9:11819200-11820000	Weak transcription	Fetal Brain Male	brain
37	chr9:11820000-11820200	Enhancers	Fetal Brain Male	brain
38	chr9:11820000-11821400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:11820200-11821000	Weak transcription	Fetal Brain Male	brain
40	chr9:11820600-11822600	Enhancers	Fetal Heart	heart
41	chr9:11820800-11821800	Enhancers	Fetal Brain Female	brain
42	chr9:11820800-11822600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:11821000-11823400	Enhancers	Fetal Brain Male	brain
44	chr9:11821400-11821800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:11821400-11821800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr9:11821400-11821800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr9:11821400-11821800	Enhancers	Pancreas	Pancrea
48	chr9:11821600-11822000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr9:11821800-11823000	Weak transcription	Fetal Brain Female	brain
50	chr9:11821800-11823200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links