Variant report

Variant	nsv613419
Chromosome Location	chr9:11187028-11235126
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:11216192..11218001-chr9:11219669..11221559,2	K562	blood:
2	chr9:11216192..11218001-chr9:11219669..11221559,2	K562	blood:
3	chr1:210502189..210502757-chr9:11220602..11221102,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRD-3	chr9:11194276-11194381	XLOC_007645

Variant related genes	Relation type
ENSG00000054392	chromatin interactions

Extended variants
information (count: 587 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:587 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530074699	chr9:11194001-11194002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546691615	chr9:11194005-11194006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142327480	chr9:11194014-11194015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111539129	chr9:11194029-11194030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139000159	chr9:11194052-11194053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572830390	chr9:11194055-11194056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10125755	chr9:11194115-11194116	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565524260	chr9:11194117-11194118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7465994	chr9:11194132-11194133	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142144714	chr9:11194149-11194150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567240831	chr9:11194186-11194187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73403199	chr9:11194222-11194223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543906249	chr9:11194236-11194237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10809379	chr9:11194239-11194240	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146350328	chr9:11194292-11194293	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs529327323	chr9:11194334-11194335	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs559192111	chr9:11194348-11194349	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs7862633	chr9:11194352-11194353	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs184585062	chr9:11194353-11194354	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs148137633	chr9:11194389-11194390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78779604	chr9:11194411-11194412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561530235	chr9:11194425-11194426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188785023	chr9:11194438-11194439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74577153	chr9:11194499-11194500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141707192	chr9:11194526-11194527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376687726	chr9:11194532-11194533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201418930	chr9:11194539-11194540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1489171	chr9:11194546-11194547	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10809380	chr9:11194626-11194627	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192903087	chr9:11194657-11194658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569020957	chr9:11194670-11194671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34626918	chr9:11194716-11194717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530588397	chr9:11194785-11194786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371033110	chr9:11194831-11194832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185859026	chr9:11194837-11194838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530973857	chr9:11194842-11194843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567201845	chr9:11194851-11194852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550670165	chr9:11194856-11194857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10756202	chr9:11194921-11194922	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566392878	chr9:11194931-11194932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527751425	chr9:11194935-11194936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150530516	chr9:11194991-11194992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527879913	chr9:11194994-11194995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558644424	chr9:11195009-11195010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575427134	chr9:11195117-11195118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544786653	chr9:11195146-11195147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552583344	chr9:11195177-11195178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555226599	chr9:11195189-11195190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139481948	chr9:11195208-11195209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540608396	chr9:11195269-11195270	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
abnormal development	18461090	CNVD
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
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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11194000-11194600	Enhancers	Fetal Brain Male	brain
2	chr9:11194200-11194400	Enhancers	Brain Germinal Matrix	brain
3	chr9:11194200-11195000	Enhancers	Fetal Brain Female	brain
4	chr9:11194400-11195200	Weak transcription	Brain Germinal Matrix	brain
5	chr9:11195200-11196200	Enhancers	Brain Germinal Matrix	brain
6	chr9:11196000-11196800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:11196800-11197200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:11197200-11203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:11199000-11199800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:11199200-11199800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:11199200-11199800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr9:11199200-11200400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr9:11199400-11199800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr9:11199600-11200400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:11207600-11207800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr9:11233800-11235200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:11234600-11235800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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