Variant report

Variant	nsv466258
Chromosome Location	chr9:12928475-12968196
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:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:12964990..12966933-chr9:12968548..12971225,2	MCF-7	breast:
2	chr9:12922589..12925309-chr9:12932316..12933934,2	MCF-7	breast:
3	chr9:12955347..12957519-chr9:12959298..12960920,2	MCF-7	breast:
4	chr9:12955347..12957519-chr9:12959298..12960920,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPDZ-7	chr9:12956371-12956378	NONHSAT130230
2	lnc-MPDZ-7	chr9:12950565-12950844	NONHSAT130230
3	lnc-MPDZ-6	chr9:12951763-12951838	NONHSAT130231
4	lnc-MPDZ-6	chr9:12968103-12968512	NONHSAT130231

No data

Extended variants
information (count: 1690 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1690 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1332057	chr9:12928475-12928476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536283605	chr9:12928489-12928490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193020155	chr9:12928505-12928506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566783778	chr9:12928508-12928509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538575284	chr9:12928548-12928549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558293286	chr9:12928576-12928577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201803486	chr9:12928605-12928606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537147162	chr9:12928607-12928608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369932202	chr9:12928624-12928625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1953022	chr9:12928638-12928639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1953023	chr9:12928645-12928646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1332058	chr9:12928690-12928691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1332059	chr9:12928698-12928699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs74797233	chr9:12928734-12928735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397696976	chr9:12928739-12928740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573448726	chr9:12928749-12928750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1332060	chr9:12928765-12928766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375601892	chr9:12928813-12928814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1332061	chr9:12928830-12928831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190395656	chr9:12928916-12928917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574972176	chr9:12928936-12928937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544313084	chr9:12928945-12928946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560997807	chr9:12928952-12928953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs885133	chr9:12928991-12928992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546545082	chr9:12928994-12928995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140516264	chr9:12929001-12929002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532392072	chr9:12929010-12929011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552102146	chr9:12929026-12929027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144251777	chr9:12929042-12929043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537684978	chr9:12929062-12929063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs868338	chr9:12929072-12929073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs885132	chr9:12929088-12929089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536363486	chr9:12929092-12929093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553290427	chr9:12929114-12929115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545805191	chr9:12929141-12929142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545711617	chr9:12929147-12929148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559332709	chr9:12929164-12929165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2095035	chr9:12929196-12929197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs202219757	chr9:12929225-12929226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544846434	chr9:12929226-12929227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561341743	chr9:12929236-12929237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113822395	chr9:12929240-12929241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539957806	chr9:12929241-12929242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560093733	chr9:12929242-12929243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532021197	chr9:12929268-12929269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2095036	chr9:12929308-12929309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562198336	chr9:12929311-12929312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562472295	chr9:12929317-12929318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531523235	chr9:12929355-12929356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146574590	chr9:12929370-12929371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12917000-12933600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr9:12917200-12930000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:12917200-12934000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr9:12917400-12933600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:12922800-12931000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:12924000-12931000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:12924800-12933800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:12925400-12930000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:12925400-12930200	Weak transcription	NHDF-Ad	bronchial
10	chr9:12925400-12933200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr9:12925400-12933400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:12925400-12934200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:12927800-12930000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:12930000-12930200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:12930000-12931000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr9:12930000-12932200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:12930200-12931400	Enhancers	NHDF-Ad	bronchial
18	chr9:12930200-12931800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:12930600-12931000	Weak transcription	NHLF	lung
20	chr9:12930800-12931000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:12930800-12931000	Enhancers	HUVEC	blood vessel
22	chr9:12930800-12931200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:12930800-12931400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:12930800-12932200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:12931000-12931200	Enhancers	NHEK	skin
26	chr9:12931000-12931200	Enhancers	NHLF	lung
27	chr9:12931000-12931200	Enhancers	Osteobl	bone
28	chr9:12931000-12931400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:12931000-12931600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:12931000-12932200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:12931000-12932200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:12931000-12932200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:12931000-12932600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:12931000-12934000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:12931200-12932400	Weak transcription	HUVEC	blood vessel
36	chr9:12931200-12933400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:12931200-12933600	Weak transcription	NHLF	lung
38	chr9:12931200-12933800	Weak transcription	NHEK	skin
39	chr9:12931200-12934000	Weak transcription	Osteobl	bone
40	chr9:12931400-12933200	Weak transcription	NHDF-Ad	bronchial
41	chr9:12931400-12933400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr9:12931400-12933600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:12931600-12932000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:12931800-12932000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:12931800-12932200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr9:12932200-12933400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr9:12932200-12933400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:12932200-12934000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:12932200-12934000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:12932200-12934000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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