Variant report

Variant	nsv892809
Chromosome Location	chr9:24911674-25049865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 655 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:655 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548887416	chr9:24911805-24911806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148659678	chr9:24911815-24911816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2169325	chr9:24911868-24911869	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs557175107	chr9:24911888-24911889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576925373	chr9:24911895-24911896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35305241	chr9:24911900-24911901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539928035	chr9:24911906-24911907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187855950	chr9:24911912-24911913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75887736	chr9:24911915-24911916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528413894	chr9:24911916-24911917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76060518	chr9:24911931-24911932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201561179	chr9:24911979-24911980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552307360	chr9:24911985-24911986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34810270	chr9:24911986-24911987	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs575649351	chr9:24911987-24911988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537886025	chr9:24911989-24911990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs397894561	chr9:24911994-24911995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544416761	chr9:24911996-24911997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555290081	chr9:24912005-24912006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374526743	chr9:24912006-24912007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141268518	chr9:24912034-24912035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576719347	chr9:24912057-24912058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562522832	chr9:24912079-24912080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544070894	chr9:24912145-24912146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546692068	chr9:24912148-24912149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559866761	chr9:24912176-24912177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565376763	chr9:24912192-24912193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189195065	chr9:24912208-24912209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113408174	chr9:24912223-24912224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548738872	chr9:24912230-24912231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4628337	chr9:24912363-24912364	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs537397166	chr9:24912404-24912405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4514074	chr9:24912430-24912431	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs193085095	chr9:24912459-24912460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs5897109	chr9:24912470-24912471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368867463	chr9:24912473-24912474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75308392	chr9:24912502-24912503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554313549	chr9:24912512-24912513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201249688	chr9:24912518-24912519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34948669	chr9:24912519-24912520	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs386733735	chr9:24912520-24912521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4392991	chr9:24912521-24912522	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs36120852	chr9:24912522-24912523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559502898	chr9:24912528-24912529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184042898	chr9:24912549-24912550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555842973	chr9:24912580-24912581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146325589	chr9:24912588-24912589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs386733736	chr9:24912594-24912595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4472612	chr9:24912596-24912597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7849883	chr9:24912613-24912614	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:146)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	21811587	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24911800-24912400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr9:24911800-24913600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:24931400-24932800	Enhancers	Primary B cells from cord blood	blood
4	chr9:24932600-24933200	Enhancers	GM12878-XiMat	blood
5	chr9:24932800-24933200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr9:24933200-24935000	Enhancers	Primary B cells from cord blood	blood
7	chr9:24936200-24936600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:24936400-24936600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr9:24936600-24939000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr9:24936800-24940800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr9:24938800-24939600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr9:24938800-24940000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:24939000-24939400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:24939000-24939600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr9:24939000-24940000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr9:24939200-24939600	Enhancers	Fetal Brain Female	brain
17	chr9:24939200-24940000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr9:24939200-24940000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:24939200-24940200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr9:24939400-24940200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:24940000-24940800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr9:24940800-24941000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:24940800-24941200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr9:24941000-24941200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr9:24941000-24942000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr9:24942000-24942200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:24959000-24959200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:24979800-24980000	Enhancers	Pancreas	Pancrea
29	chr9:24995800-24997000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr9:25003000-25004200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:25003200-25003800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr9:25003400-25003600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr9:25003400-25003800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr9:25003400-25004200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr9:25003400-25004200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr9:25003400-25004400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr9:25003600-25003800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
38	chr9:25003600-25004400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr9:25004000-25004400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:25004000-25004600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr9:25021800-25022000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
42	chr9:25048400-25048800	Enhancers	Adipose Nuclei	Adipose

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