Variant report

Variant	esv3483609
Chromosome Location	chr9:8865135-8872711
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	chr9:8868603..8871582-chr9:8873717..8875264,2	K562	blood:

Extended variants
information (count: 309 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547812657	chr9:8865144-8865145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559691404	chr9:8865145-8865146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533413609	chr9:8865148-8865149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148354495	chr9:8865153-8865154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376322051	chr9:8865154-8865155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139757437	chr9:8865157-8865158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374260740	chr9:8865158-8865159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368683410	chr9:8865159-8865160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184220323	chr9:8865182-8865183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140210805	chr9:8865225-8865226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188633638	chr9:8865231-8865232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113270445	chr9:8865261-8865262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537555949	chr9:8865266-8865267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549131043	chr9:8865267-8865268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567374684	chr9:8865306-8865307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534899661	chr9:8865332-8865333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553031735	chr9:8865338-8865339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577213539	chr9:8865346-8865347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538200029	chr9:8865477-8865478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111852214	chr9:8865559-8865560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80038065	chr9:8865630-8865631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542342550	chr9:8865641-8865642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191593559	chr9:8865650-8865651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574193814	chr9:8865660-8865661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12685753	chr9:8865682-8865683	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs184493807	chr9:8865690-8865691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552843849	chr9:8865709-8865710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533679353	chr9:8865718-8865719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189425038	chr9:8865748-8865749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369691231	chr9:8865754-8865755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115919642	chr9:8865789-8865790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145361454	chr9:8865796-8865797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372457962	chr9:8865827-8865828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182334319	chr9:8865851-8865852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534561443	chr9:8865880-8865881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546775258	chr9:8865897-8865898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10977327	chr9:8865925-8865926	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs538561734	chr9:8865949-8865950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114378522	chr9:8865979-8865980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568547331	chr9:8866024-8866025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536337006	chr9:8866064-8866065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187415644	chr9:8866090-8866091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572898582	chr9:8866095-8866096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541228169	chr9:8866125-8866126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142593369	chr9:8866154-8866155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117771320	chr9:8866205-8866206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189318762	chr9:8866217-8866218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181637846	chr9:8866223-8866224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543837496	chr9:8866244-8866245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530966466	chr9:8866329-8866330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
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
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
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8858800-8871400	Enhancers	Fetal Heart	heart
2	chr9:8859400-8870800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:8859600-8866400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:8860200-8867400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:8860800-8867200	Weak transcription	Brain Germinal Matrix	brain
6	chr9:8861200-8867400	Weak transcription	Fetal Brain Female	brain
7	chr9:8863000-8868200	Enhancers	Brain Cingulate Gyrus	brain
8	chr9:8863400-8868200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:8863400-8872000	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:8863600-8865600	Weak transcription	Brain Substantia Nigra	brain
11	chr9:8864000-8865400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr9:8864000-8866000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:8864600-8868800	Weak transcription	Small Intestine	intestine
14	chr9:8864600-8870800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:8864800-8865200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:8864800-8865600	Weak transcription	Ovary	ovary
17	chr9:8864800-8867000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:8864800-8867000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:8864800-8867000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr9:8864800-8867200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:8864800-8867200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr9:8864800-8868600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr9:8864800-8868600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr9:8864800-8869400	Weak transcription	Aorta	Aorta
25	chr9:8864800-8869400	Weak transcription	Fetal Intestine Small	intestine
26	chr9:8864800-8870800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:8864800-8870800	Enhancers	Brain Anterior Caudate	brain
28	chr9:8865000-8865400	Weak transcription	Brain Angular Gyrus	brain
29	chr9:8865000-8866400	Weak transcription	Brain Hippocampus Middle	brain
30	chr9:8865000-8866800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:8865000-8866800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr9:8865000-8867000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:8865000-8867200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr9:8865000-8867200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr9:8865000-8868800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr9:8865000-8868800	Weak transcription	NH-A	brain
37	chr9:8865200-8865800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr9:8865400-8865600	Enhancers	Brain Angular Gyrus	brain
39	chr9:8865600-8865800	Enhancers	Brain Substantia Nigra	brain
40	chr9:8865600-8865800	Enhancers	Ovary	ovary
41	chr9:8865600-8867400	Weak transcription	Brain Angular Gyrus	brain
42	chr9:8865800-8866200	Weak transcription	Brain Substantia Nigra	brain
43	chr9:8865800-8870800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:8866000-8866400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr9:8866200-8870800	Enhancers	Brain Substantia Nigra	brain
46	chr9:8866400-8866600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr9:8866400-8867200	Enhancers	Brain Hippocampus Middle	brain
48	chr9:8866400-8867800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr9:8866600-8868400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:8866800-8867600	Enhancers	HUES64 Cell Line	embryonic stem cell

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