Variant report

Variant	nsv1031065
Chromosome Location	chr9:24932289-25012808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 487 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:487 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7874395	chr9:24932289-24932290	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142433735	chr9:24932337-24932338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564446783	chr9:24932344-24932345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533188495	chr9:24932349-24932350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10966576	chr9:24932377-24932378	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531388634	chr9:24932382-24932383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181518488	chr9:24932390-24932391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529084771	chr9:24932400-24932401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186649688	chr9:24932439-24932440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145979661	chr9:24932551-24932552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375658158	chr9:24932564-24932565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530781390	chr9:24932585-24932586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112518086	chr9:24932666-24932667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537580224	chr9:24932714-24932715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188488323	chr9:24932737-24932738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571185684	chr9:24932785-24932786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181005367	chr9:24932792-24932793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553582527	chr9:24932845-24932846	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573504051	chr9:24932897-24932898	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369713383	chr9:24932926-24932927	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536046543	chr9:24932971-24932972	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72715948	chr9:24933021-24933022	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189535562	chr9:24933037-24933038	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560963327	chr9:24933064-24933065	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13301344	chr9:24933070-24933071	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571370355	chr9:24933071-24933072	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139443335	chr9:24933079-24933080	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13301740	chr9:24933083-24933084	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540316873	chr9:24933113-24933114	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10812140	chr9:24933115-24933116	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113062352	chr9:24933127-24933128	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144575413	chr9:24933138-24933139	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562317928	chr9:24933151-24933152	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531416323	chr9:24933236-24933237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148483667	chr9:24933263-24933264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571255538	chr9:24933280-24933281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565929800	chr9:24933307-24933308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10966577	chr9:24933342-24933343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527275598	chr9:24933369-24933370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145319393	chr9:24933398-24933399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112017828	chr9:24933412-24933413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566342408	chr9:24933430-24933431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375472263	chr9:24933449-24933450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113861821	chr9:24933478-24933479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536182784	chr9:24933488-24933489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536968781	chr9:24933503-24933504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555099381	chr9:24933509-24933510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576572372	chr9:24933537-24933538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184097512	chr9:24933566-24933567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116226507	chr9:24933659-24933660	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:143)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	17363583	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Lung cancer	21569311	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24931400-24932800	Enhancers	Primary B cells from cord blood	blood
2	chr9:24932600-24933200	Enhancers	GM12878-XiMat	blood
3	chr9:24932800-24933200	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr9:24933200-24935000	Enhancers	Primary B cells from cord blood	blood
5	chr9:24936200-24936600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr9:24936400-24936600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr9:24936600-24939000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:24936800-24940800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr9:24938800-24939600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr9:24938800-24940000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:24939000-24939400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:24939000-24939600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr9:24939000-24940000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr9:24939200-24939600	Enhancers	Fetal Brain Female	brain
15	chr9:24939200-24940000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr9:24939200-24940000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:24939200-24940200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr9:24939400-24940200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr9:24940000-24940800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:24940800-24941000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr9:24940800-24941200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:24941000-24941200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr9:24941000-24942000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:24942000-24942200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:24959000-24959200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr9:24979800-24980000	Enhancers	Pancreas	Pancrea
27	chr9:24995800-24997000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr9:25003000-25004200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:25003200-25003800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr9:25003400-25003600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr9:25003400-25003800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr9:25003400-25004200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr9:25003400-25004200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr9:25003400-25004400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr9:25003600-25003800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr9:25003600-25004400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr9:25004000-25004400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:25004000-25004600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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