Variant report

Variant	nsv892195
Chromosome Location	chr9:7251005-7285728
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:7248541..7250774-chr9:7255536..7257975,2	K562	blood:
2	chr9:7052694..7053246-chr9:7259513..7260136,3	MCF-7	breast:
3	chr9:7093984..7094670-chr9:7259334..7260480,4	MCF-7	breast:

Extended variants
information (count: 1424 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1424 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536989736	chr9:7253226-7253227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534165306	chr9:7253236-7253237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572549272	chr9:7253238-7253239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201550105	chr9:7253247-7253248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187059468	chr9:7253280-7253281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9721752	chr9:7253300-7253301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575996204	chr9:7253301-7253302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2209947	chr9:7253326-7253327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562468351	chr9:7253331-7253332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192825822	chr9:7253334-7253335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536066895	chr9:7253380-7253381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145551726	chr9:7253384-7253385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527383469	chr9:7253386-7253387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62533194	chr9:7253391-7253392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371354013	chr9:7253406-7253407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201172077	chr9:7253413-7253414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531363118	chr9:7253454-7253455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184758168	chr9:7253455-7253456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568777152	chr9:7253457-7253458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535772146	chr9:7253484-7253485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199635366	chr9:7253494-7253495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554348275	chr9:7253502-7253503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143721220	chr9:7253503-7253504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200453136	chr9:7253539-7253540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189626136	chr9:7253550-7253551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148104243	chr9:7253562-7253563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141949542	chr9:7253573-7253574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112574956	chr9:7253601-7253602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375512283	chr9:7253621-7253622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555329898	chr9:7253652-7253653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200803516	chr9:7253653-7253654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180800578	chr9:7253677-7253678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185015815	chr9:7253686-7253687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189344785	chr9:7253687-7253688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181637678	chr9:7253690-7253691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545936081	chr9:7253697-7253698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564204672	chr9:7253740-7253741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531425332	chr9:7253771-7253772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139237838	chr9:7253775-7253776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561481014	chr9:7253776-7253777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529602728	chr9:7253784-7253785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575203887	chr9:7253786-7253787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547741416	chr9:7253791-7253792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535205750	chr9:7253804-7253805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566287578	chr9:7253813-7253814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539675448	chr9:7253819-7253820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143354296	chr9:7253823-7253824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569853003	chr9:7253833-7253834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561589998	chr9:7253863-7253864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537143172	chr9:7253909-7253910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7253200-7266800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:7255600-7258400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:7258400-7258800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:7258400-7259000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:7258600-7259600	Enhancers	Fetal Heart	heart
6	chr9:7258800-7260600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:7259000-7259400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:7259400-7261200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:7259600-7259800	Enhancers	Right Atrium	heart
10	chr9:7259600-7260000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:7260600-7261000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:7264400-7265200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:7264800-7265800	Enhancers	Fetal Brain Male	brain
14	chr9:7264800-7268600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr9:7265000-7265200	Enhancers	Fetal Kidney	kidney
16	chr9:7265000-7267800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:7265000-7268800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:7265200-7267400	Weak transcription	Fetal Kidney	kidney
19	chr9:7265400-7265600	Enhancers	Brain Germinal Matrix	brain
20	chr9:7265600-7267800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr9:7265800-7266800	Weak transcription	Brain Germinal Matrix	brain
22	chr9:7265800-7266800	Weak transcription	Fetal Brain Male	brain
23	chr9:7266400-7267400	Enhancers	Brain Substantia Nigra	brain
24	chr9:7266400-7267600	Enhancers	Fetal Brain Female	brain
25	chr9:7266400-7267800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:7266600-7267200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr9:7266600-7267200	Enhancers	Brain Angular Gyrus	brain
28	chr9:7266600-7267200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr9:7266600-7267400	Enhancers	Brain Anterior Caudate	brain
30	chr9:7266600-7267600	Enhancers	Brain Cingulate Gyrus	brain
31	chr9:7266600-7267600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr9:7266600-7267600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr9:7266600-7267800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr9:7266800-7267000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:7266800-7267000	Enhancers	Brain Hippocampus Middle	brain
36	chr9:7266800-7267000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr9:7266800-7267200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:7266800-7267200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:7266800-7267400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:7266800-7267400	Enhancers	Brain Germinal Matrix	brain
41	chr9:7266800-7267600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:7266800-7267600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr9:7266800-7267600	Enhancers	Fetal Brain Male	brain
44	chr9:7266800-7267800	Enhancers	Fetal Intestine Large	intestine
45	chr9:7266800-7268000	Enhancers	Fetal Intestine Small	intestine
46	chr9:7266800-7268000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr9:7267000-7267400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:7267000-7267400	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr9:7267000-7267800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:7267200-7268200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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