Variant report

Variant	nsv1015783
Chromosome Location	chr9:8117601-8148244
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:

Extended variants
information (count: 614 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77104364	chr9:8118203-8118204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528657424	chr9:8118216-8118217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111507526	chr9:8118219-8118220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10976783	chr9:8118223-8118224	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370152979	chr9:8118251-8118252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549460693	chr9:8118264-8118265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4742454	chr9:8118297-8118298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550263555	chr9:8118334-8118335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79996955	chr9:8118362-8118363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73406358	chr9:8118416-8118417	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368264396	chr9:8118429-8118430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548480573	chr9:8118439-8118440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4740928	chr9:8118445-8118446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs146096132	chr9:8118449-8118450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73406359	chr9:8118456-8118457	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577999103	chr9:8118471-8118472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539145107	chr9:8118494-8118495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556902937	chr9:8118500-8118501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4742455	chr9:8118541-8118542	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs76640436	chr9:8118542-8118543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188268697	chr9:8118551-8118552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555106403	chr9:8118579-8118580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12115622	chr9:8118584-8118585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573164413	chr9:8118590-8118591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548677882	chr9:8118595-8118596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540433190	chr9:8118604-8118605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142406405	chr9:8118627-8118628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532083899	chr9:8118628-8118629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550677107	chr9:8118641-8118642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112950813	chr9:8118647-8118648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182045156	chr9:8118666-8118667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186376262	chr9:8118703-8118704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368457973	chr9:8118777-8118778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151299813	chr9:8118815-8118816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571914903	chr9:8118816-8118817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115508330	chr9:8118827-8118828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552056987	chr9:8118830-8118831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73640582	chr9:8118861-8118862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs986195	chr9:8118871-8118872	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs111873672	chr9:8118897-8118898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139431028	chr9:8118907-8118908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558075613	chr9:8118912-8118913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536237389	chr9:8118914-8118915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554554203	chr9:8118929-8118930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371313782	chr9:8118934-8118935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535586644	chr9:8118968-8118969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374929823	chr9:8127840-8127841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184348069	chr9:8127846-8127847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190446326	chr9:8127878-8127879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538688529	chr9:8127894-8127895	Enhancers	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
Pancreatic cancer	21811587	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8118200-8119000	Enhancers	Ovary	ovary
2	chr9:8118400-8118800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr9:8127800-8129000	Enhancers	Dnd41	blood
4	chr9:8130200-8130600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr9:8130400-8131000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr9:8133000-8133400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:8133000-8133800	Enhancers	Brain Germinal Matrix	brain
8	chr9:8133000-8134200	Enhancers	Brain Cingulate Gyrus	brain
9	chr9:8133000-8134800	Enhancers	Brain Substantia Nigra	brain
10	chr9:8133000-8135000	Enhancers	Brain Hippocampus Middle	brain
11	chr9:8133000-8135000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr9:8133200-8133400	Enhancers	Brain Angular Gyrus	brain
13	chr9:8133200-8133600	Enhancers	Ovary	ovary
14	chr9:8133400-8134200	Weak transcription	Brain Angular Gyrus	brain
15	chr9:8133600-8134800	Weak transcription	Ovary	ovary
16	chr9:8134200-8134600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:8134200-8135000	Enhancers	Brain Angular Gyrus	brain
18	chr9:8134400-8140600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr9:8134600-8135000	Enhancers	Brain Cingulate Gyrus	brain
20	chr9:8134800-8135000	Enhancers	Ovary	ovary
21	chr9:8134800-8135200	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr9:8136000-8136800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr9:8136400-8137000	Enhancers	Colonic Mucosa	Colon
24	chr9:8138600-8141600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr9:8138600-8141600	Enhancers	Fetal Heart	heart
26	chr9:8138600-8141800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr9:8138800-8139600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr9:8138800-8139800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr9:8138800-8141400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr9:8139000-8139200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr9:8139200-8140400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr9:8139200-8141800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr9:8139400-8139600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr9:8139400-8139800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr9:8139600-8140400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr9:8139800-8140200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:8139800-8140200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr9:8140200-8141200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr9:8140200-8141800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr9:8140400-8141000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr9:8140400-8141200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr9:8140400-8141800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr9:8140600-8141000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:8140600-8141200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:8140600-8141200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:8141600-8142400	Weak transcription	Fetal Heart	heart
47	chr9:8142400-8142600	Enhancers	Fetal Heart	heart
48	chr9:8147800-8148600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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