Variant report

Variant	nsv613317
Chromosome Location	chr9:9526811-9605832
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	chr9:9539103..9541014-chr9:9543806..9546014,2	K562	blood:
2	chr9:9539103..9541014-chr9:9543806..9546014,2	K562	blood:

Extended variants
information (count: 1334 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:1334 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs694959	chr9:9526811-9526812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189817356	chr9:9526892-9526893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369292313	chr9:9526920-9526921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575194709	chr9:9526962-9526963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144569371	chr9:9527041-9527042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539195530	chr9:9527050-9527051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556784471	chr9:9527097-9527098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144714766	chr9:9527115-9527116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560475925	chr9:9527133-9527134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561013733	chr9:9527171-9527172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527579470	chr9:9527185-9527186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530340207	chr9:9527222-9527223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552375181	chr9:9527229-9527230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570538191	chr9:9527240-9527241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182509187	chr9:9527263-9527264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549580075	chr9:9527266-9527267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114157882	chr9:9527276-9527277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535042390	chr9:9527312-9527313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560875565	chr9:9527388-9527389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138506826	chr9:9527465-9527466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553340016	chr9:9527522-9527523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75511464	chr9:9527545-9527546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73641311	chr9:9527574-9527575	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559124955	chr9:9527636-9527637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374309251	chr9:9527642-9527643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187162966	chr9:9527709-9527710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10115232	chr9:9527754-9527755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs140235391	chr9:9527759-9527760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191911309	chr9:9527819-9527820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570297059	chr9:9527821-9527822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116479038	chr9:9527842-9527843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143587587	chr9:9527886-9527887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545745318	chr9:9527901-9527902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148063842	chr9:9527927-9527928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531357000	chr9:9527935-9527936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552856508	chr9:9527936-9527937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185181847	chr9:9527952-9527953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141804194	chr9:9527969-9527970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188940097	chr9:9527974-9527975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565305071	chr9:9527977-9527978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534531228	chr9:9527978-9527979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558938948	chr9:9528013-9528014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571034250	chr9:9528031-9528032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538096997	chr9:9528040-9528041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111540624	chr9:9528064-9528065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150135471	chr9:9528080-9528081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138877480	chr9:9528081-9528082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79204619	chr9:9528100-9528101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537805586	chr9:9528123-9528124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113010975	chr9:9528138-9528139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Glioblastoma multiforme	21080181	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
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
Intellectual disability	22102821	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
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	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
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
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Autism	20531469	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9526000-9533800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:9527200-9527600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:9527600-9528000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:9528000-9528800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:9532400-9533600	Enhancers	Fetal Brain Male	brain
6	chr9:9533600-9535000	Weak transcription	Fetal Brain Male	brain
7	chr9:9533800-9534800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr9:9534400-9534600	Enhancers	Fetal Brain Female	brain
9	chr9:9534400-9537200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr9:9534600-9535600	Weak transcription	Fetal Brain Female	brain
11	chr9:9534800-9535000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr9:9534800-9535800	Enhancers	Brain Germinal Matrix	brain
13	chr9:9534800-9538200	Enhancers	Fetal Heart	heart
14	chr9:9535000-9535200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:9535000-9537000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr9:9535000-9537200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr9:9535000-9537200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr9:9535000-9538200	Enhancers	Fetal Brain Male	brain
19	chr9:9535600-9535800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr9:9535600-9537000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:9535600-9537200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:9535600-9538200	Enhancers	Fetal Brain Female	brain
23	chr9:9535800-9536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr9:9535800-9536600	Enhancers	Brain Anterior Caudate	brain
25	chr9:9535800-9536600	Weak transcription	Brain Germinal Matrix	brain
26	chr9:9535800-9537000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr9:9535800-9537000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr9:9536000-9536600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:9536400-9536800	Enhancers	Brain Angular Gyrus	brain
30	chr9:9536400-9537400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr9:9536600-9536800	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr9:9536600-9537000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr9:9536600-9537200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr9:9536800-9537000	Active TSS	Brain Anterior Caudate	brain
35	chr9:9536800-9537000	Enhancers	Brain Germinal Matrix	brain
36	chr9:9537000-9537400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:9537200-9537400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr9:9537400-9537800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr9:9538200-9539200	Weak transcription	Fetal Brain Male	brain
40	chr9:9538200-9539200	Weak transcription	Fetal Brain Female	brain
41	chr9:9539200-9539400	Enhancers	Fetal Brain Female	brain
42	chr9:9539200-9539600	Enhancers	Fetal Brain Male	brain
43	chr9:9540400-9541600	Enhancers	Dnd41	blood
44	chr9:9541200-9541600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:9547400-9547600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:9551800-9552000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr9:9552000-9552800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr9:9552000-9553000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr9:9552000-9556200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr9:9552600-9552800	Enhancers	HUES64 Cell Line	embryonic stem cell

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