Variant report

Variant	nsv1027699
Chromosome Location	chr9:8094833-8144973
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	chr9:8106136..8108592-chr9:8119218..8121466,2	K562	blood:
2	chr9:8106136..8108592-chr9:8119218..8121466,2	K562	blood:

Extended variants
information (count: 914 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:914 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10815755	chr9:8095412-8095413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377434208	chr9:8095420-8095421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371110297	chr9:8095435-8095436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71317340	chr9:8095455-8095456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201383300	chr9:8095456-8095457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74334734	chr9:8095457-8095458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576325453	chr9:8095467-8095468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543784753	chr9:8095519-8095520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536633061	chr9:8095532-8095533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190138722	chr9:8095552-8095553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376004087	chr9:8095561-8095562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72704253	chr9:8095611-8095612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543843722	chr9:8095621-8095622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372444273	chr9:8095631-8095632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182372322	chr9:8095634-8095635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6477258	chr9:8095638-8095639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533570868	chr9:8095656-8095657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369415463	chr9:8095668-8095669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147416421	chr9:8095669-8095670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569746822	chr9:8095670-8095671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536777860	chr9:8095677-8095678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548938736	chr9:8095687-8095688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567197074	chr9:8095715-8095716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534595705	chr9:8095813-8095814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138102451	chr9:8095882-8095883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577369972	chr9:8095895-8095896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538463663	chr9:8095904-8095905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556912654	chr9:8095922-8095923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186813768	chr9:8095934-8095935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529719601	chr9:8095973-8095974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76042111	chr9:8095976-8095977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149544502	chr9:8096009-8096010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376798097	chr9:8096026-8096027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189672377	chr9:8096031-8096032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541700927	chr9:8096046-8096047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184030295	chr9:8096047-8096048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532335740	chr9:8096073-8096074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188957637	chr9:8096101-8096102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144169220	chr9:8096137-8096138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569034424	chr9:8096144-8096145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199945144	chr9:8096162-8096163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148682044	chr9:8096163-8096164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142809091	chr9:8096176-8096177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530623859	chr9:8096194-8096195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145439954	chr9:8096198-8096199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548203848	chr9:8096199-8096200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146046333	chr9:8096215-8096216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567212781	chr9:8096219-8096220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35668048	chr9:8096245-8096246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140102678	chr9:8096255-8096256	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Pancreatic cancer	21811587	CNVD
Bipolar disorder	19114987	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8095400-8096400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:8095400-8096800	Enhancers	Brain Germinal Matrix	brain
3	chr9:8095600-8096600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr9:8095600-8096600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:8095600-8096800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:8096000-8096400	Enhancers	Fetal Brain Male	brain
7	chr9:8109200-8109400	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr9:8109200-8109600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:8109600-8109800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:8109600-8109800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr9:8109800-8110200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:8109800-8111200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr9:8110200-8111000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:8110800-8111000	Bivalent/Poised TSS	Stomach Mucosa	stomach
15	chr9:8110800-8111200	Enhancers	Brain Hippocampus Middle	brain
16	chr9:8110800-8111200	Enhancers	Brain Substantia Nigra	brain
17	chr9:8111000-8111200	Bivalent Enhancer	Stomach Mucosa	stomach
18	chr9:8111000-8112400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr9:8111200-8112200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:8111200-8112200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:8111400-8112400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:8111400-8113200	Enhancers	Stomach Mucosa	stomach
23	chr9:8111600-8112200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr9:8111800-8112400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr9:8111800-8112600	Enhancers	Fetal Heart	heart
26	chr9:8113800-8114200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr9:8114800-8115200	Enhancers	Dnd41	blood
28	chr9:8118200-8119000	Enhancers	Ovary	ovary
29	chr9:8118400-8118800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr9:8127800-8129000	Enhancers	Dnd41	blood
31	chr9:8130200-8130600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr9:8130400-8131000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr9:8133000-8133400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:8133000-8133800	Enhancers	Brain Germinal Matrix	brain
35	chr9:8133000-8134200	Enhancers	Brain Cingulate Gyrus	brain
36	chr9:8133000-8134800	Enhancers	Brain Substantia Nigra	brain
37	chr9:8133000-8135000	Enhancers	Brain Hippocampus Middle	brain
38	chr9:8133000-8135000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr9:8133200-8133400	Enhancers	Brain Angular Gyrus	brain
40	chr9:8133200-8133600	Enhancers	Ovary	ovary
41	chr9:8133400-8134200	Weak transcription	Brain Angular Gyrus	brain
42	chr9:8133600-8134800	Weak transcription	Ovary	ovary
43	chr9:8134200-8134600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr9:8134200-8135000	Enhancers	Brain Angular Gyrus	brain
45	chr9:8134400-8140600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:8134600-8135000	Enhancers	Brain Cingulate Gyrus	brain
47	chr9:8134800-8135000	Enhancers	Ovary	ovary
48	chr9:8134800-8135200	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr9:8136000-8136800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr9:8136400-8137000	Enhancers	Colonic Mucosa	Colon

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