Variant report

Variant	esv3403639
Chromosome Location	chr9:3426952-3428100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:3426927..3428604-chr9:3430165..3432458,2	MCF-7	breast:
2	chr10:105111195..105111695-chr9:3426799..3427334,2	NB4	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373842705	chr9:3426984-3426985	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs547541654	chr9:3427078-3427079	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538370484	chr9:3427124-3427125	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs557935560	chr9:3427126-3427127	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs578086287	chr9:3427132-3427133	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs7854273	chr9:3427166-3427167	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs554512190	chr9:3427178-3427179	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs574424326	chr9:3427179-3427180	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs35835962	chr9:3427259-3427260	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs577418991	chr9:3427261-3427262	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs200876600	chr9:3427271-3427272	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs140388724	chr9:3427287-3427288	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs190508188	chr9:3427299-3427300	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs563126764	chr9:3427311-3427312	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs201810796	chr9:3427312-3427313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs71506641	chr9:3427320-3427321	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs12001963	chr9:3427328-3427329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs12001541	chr9:3427330-3427331	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs150387288	chr9:3427354-3427355	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545106981	chr9:3427369-3427370	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs562755667	chr9:3427372-3427373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs12001965	chr9:3427379-3427380	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376976292	chr9:3427415-3427416	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs71506642	chr9:3427423-3427424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs542132868	chr9:3427425-3427426	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs35590075	chr9:3427456-3427457	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs144999717	chr9:3427560-3427561	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs551728628	chr9:3427590-3427591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs117447245	chr9:3427598-3427599	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs149073075	chr9:3427676-3427677	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs560537570	chr9:3427687-3427688	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs529985472	chr9:3427719-3427720	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs549790797	chr9:3427732-3427733	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs569846726	chr9:3427771-3427772	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs143136216	chr9:3427799-3427800	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs181898563	chr9:3427827-3427828	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571726579	chr9:3427831-3427832	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534275590	chr9:3427863-3427864	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530465078	chr9:3427874-3427875	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35694003	chr9:3427882-3427883	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544578745	chr9:3427892-3427893	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186930402	chr9:3427987-3427988	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567641621	chr9:3428011-3428012	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536988922	chr9:3428013-3428014	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556547403	chr9:3428044-3428045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138703570	chr9:3428049-3428050	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545225148	chr9:3428059-3428060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3387200-3433800	Weak transcription	Pancreas	Pancrea
2	chr9:3398800-3437200	Weak transcription	Primary B cells from cord blood	blood
3	chr9:3412000-3434600	Weak transcription	Ovary	ovary
4	chr9:3419000-3437000	Weak transcription	Brain Substantia Nigra	brain
5	chr9:3420200-3427800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:3422600-3436800	Weak transcription	Psoas Muscle	Psoas
7	chr9:3425000-3428000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:3425600-3453200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:3426600-3444600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:3426800-3429400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:3426800-3432400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:3426800-3434600	Weak transcription	Primary T cells from cord blood	blood
13	chr9:3426800-3437000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:3426800-3446200	Weak transcription	Left Ventricle	heart
15	chr9:3427000-3436600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:3427600-3428200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:3427800-3428000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:3427800-3428200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:3428000-3432600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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