Variant report

Variant	esv3584901
Chromosome Location	chr9:11698781-11897834
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	chr9:11829221-11829360	XLOC_007647
2	lnc-PTPRD-5	chr9:11834674-11834988	XLOC_007647
3	lnc-PTPRD-5	chr9:11829210-11829360	XLOC_007647
4	lnc-PTPRD-10	chr9:11816029-11816601	l_3733_chr9:11816028-11824988_testes
5	lnc-PTPRD-5	chr9:11829221-11829360	XLOC_007647
6	lnc-PTPRD-5	chr9:11826175-11826601	XLOC_007647
7	lnc-PTPRD-10	chr9:11819221-11819360	l_3733_chr9:11816028-11824988_testes
8	lnc-PTPRD-5	chr9:11834674-11834959	XLOC_007647
9	lnc-PTPRD-5	chr9:11834674-11834959	XLOC_007647
10	lnc-PTPRD-10	chr9:11824674-11824988	l_3733_chr9:11816028-11824988_testes
11	lnc-PTPRD-5	chr9:11822678-11822704	XLOC_007647

No data

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

Extended variants
information (count: 2185 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:2185 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2586332	chr9:11698781-11698782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12379022	chr9:11698794-11698795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532523747	chr9:11698801-11698802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552402673	chr9:11698816-11698817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143928961	chr9:11698899-11698900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569002681	chr9:11698933-11698934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12379037	chr9:11698942-11698943	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150647158	chr9:11698961-11698962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112472199	chr9:11698965-11698966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183103153	chr9:11698974-11698975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553190087	chr9:11698978-11698979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10115826	chr9:11698983-11698984	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149353223	chr9:11699006-11699007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558826733	chr9:11699020-11699021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559213961	chr9:11699025-11699026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575394325	chr9:11699035-11699036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541852945	chr9:11699047-11699048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544267545	chr9:11699051-11699052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560835843	chr9:11699069-11699070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561728931	chr9:11699083-11699084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574335378	chr9:11699089-11699090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539852813	chr9:11699115-11699116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78098566	chr9:11699120-11699121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532710207	chr9:11699132-11699133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373842102	chr9:11699146-11699147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367721696	chr9:11699157-11699158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34607654	chr9:11699164-11699165	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531806004	chr9:11699176-11699177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs137874913	chr9:11699211-11699212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187518745	chr9:11699217-11699218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35617423	chr9:11699218-11699219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568469412	chr9:11699229-11699230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527635630	chr9:11699260-11699261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10960103	chr9:11699270-11699271	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs144654974	chr9:11699283-11699284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372083023	chr9:11699288-11699289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192138979	chr9:11699298-11699299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73401480	chr9:11699311-11699312	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528974948	chr9:11699354-11699355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74335581	chr9:11699375-11699376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549039935	chr9:11699391-11699392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148598317	chr9:11699393-11699394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563448205	chr9:11699395-11699396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187823690	chr9:11699460-11699461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540216417	chr9:11699503-11699504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369031813	chr9:11699505-11699506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553388722	chr9:11699515-11699516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193228322	chr9:11699518-11699519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546063614	chr9:11699525-11699526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184420753	chr9:11699534-11699535	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11698400-11701800	Weak transcription	Fetal Brain Male	brain
2	chr9:11698800-11701400	Enhancers	Fetal Brain Female	brain
3	chr9:11700600-11700800	Enhancers	Brain Angular Gyrus	brain
4	chr9:11700600-11701800	Enhancers	Brain Hippocampus Middle	brain
5	chr9:11700800-11701000	Enhancers	Brain Cingulate Gyrus	brain
6	chr9:11700800-11704400	Weak transcription	Brain Angular Gyrus	brain
7	chr9:11701000-11702000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:11701200-11701600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr9:11701400-11704600	Weak transcription	Fetal Brain Female	brain
10	chr9:11701600-11702000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr9:11701800-11702200	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr9:11701800-11702200	Active TSS	Brain Substantia Nigra	brain
13	chr9:11701800-11704800	Enhancers	Fetal Brain Male	brain
14	chr9:11702000-11703600	Enhancers	Brain Cingulate Gyrus	brain
15	chr9:11702000-11703800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr9:11702200-11702400	Weak transcription	Brain Substantia Nigra	brain
17	chr9:11702200-11702800	Enhancers	Brain Hippocampus Middle	brain
18	chr9:11702400-11703200	Enhancers	Brain Substantia Nigra	brain
19	chr9:11702800-11703800	Weak transcription	Brain Hippocampus Middle	brain
20	chr9:11703200-11703600	Weak transcription	Brain Substantia Nigra	brain
21	chr9:11703600-11704000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr9:11703600-11705000	Enhancers	Brain Substantia Nigra	brain
23	chr9:11703800-11705000	Enhancers	Brain Hippocampus Middle	brain
24	chr9:11703800-11705000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr9:11704000-11704800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:11704000-11705000	Enhancers	Brain Cingulate Gyrus	brain
27	chr9:11704000-11705200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:11704200-11705000	Enhancers	Brain Anterior Caudate	brain
29	chr9:11704400-11704800	Enhancers	Brain Angular Gyrus	brain
30	chr9:11704400-11705000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:11704600-11705000	Enhancers	Fetal Brain Female	brain
32	chr9:11705000-11707000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:11705200-11706400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:11705600-11706000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr9:11706400-11708800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:11707000-11708200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:11728600-11729400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr9:11728800-11729200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr9:11729000-11729400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr9:11743000-11743800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr9:11748800-11750000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:11775800-11776400	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr9:11779600-11780800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:11788400-11788600	Enhancers	Pancreas	Pancrea
45	chr9:11795000-11795400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:11806000-11806600	Enhancers	Fetal Heart	heart
47	chr9:11812600-11813000	Enhancers	Fetal Brain Male	brain
48	chr9:11819200-11820000	Weak transcription	Fetal Brain Male	brain
49	chr9:11820000-11820200	Enhancers	Fetal Brain Male	brain
50	chr9:11820000-11821400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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