Variant report

Variant	nsv524238
Chromosome Location	chr9:12435710-12499211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:12425929..12426463-chr9:12464660..12465379,2	MCF-7	breast:
2	chr8:43095234..43095797-chr9:12480274..12480774,2	MCF-7	breast:
3	chr9:12494239..12495105-chr9:12503977..12504835,2	MCF-7	breast:
4	chr9:12495478..12497603-chr9:12499554..12502350,2	MCF-7	breast:

Extended variants
information (count: 1449 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1449 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191096132	chr9:12437226-12437227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550744688	chr9:12437227-12437228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574483834	chr9:12437251-12437252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548428751	chr9:12437256-12437257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567644769	chr9:12437265-12437266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542229614	chr9:12437266-12437267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532792984	chr9:12437270-12437271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533733997	chr9:12437275-12437276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553412730	chr9:12437291-12437292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566747369	chr9:12437314-12437315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538812023	chr9:12437377-12437378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36102965	chr9:12437409-12437410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183279401	chr9:12437418-12437419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144294308	chr9:12437489-12437490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544498040	chr9:12437546-12437547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375175050	chr9:12437551-12437552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148736079	chr9:12437565-12437566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376248996	chr9:12437580-12437581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10118571	chr9:12437594-12437595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369627821	chr9:12437595-12437596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113816060	chr9:12437601-12437602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186900489	chr9:12437672-12437673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570202536	chr9:12437728-12437729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539181507	chr9:12437737-12437738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532357210	chr9:12437745-12437746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373814644	chr9:12437806-12437807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7029766	chr9:12437807-12437808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377601035	chr9:12437811-12437812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142285790	chr9:12437826-12437827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150819709	chr9:12437827-12437828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192283322	chr9:12437832-12437833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183458462	chr9:12437833-12437834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370564285	chr9:12437843-12437844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561157013	chr9:12437845-12437846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530078388	chr9:12437882-12437883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546796179	chr9:12437899-12437900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140233741	chr9:12437980-12437981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538848488	chr9:12438012-12438013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552398555	chr9:12438026-12438027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12343603	chr9:12438041-12438042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372895299	chr9:12438045-12438046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200635698	chr9:12438053-12438054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538072770	chr9:12438074-12438075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377242815	chr9:12438128-12438129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373394026	chr9:12438157-12438158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555205363	chr9:12438158-12438159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145655277	chr9:12438162-12438163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187994083	chr9:12438198-12438199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147733734	chr9:12438237-12438238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533742156	chr9:12438239-12438240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
abnormal development	18461090	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	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
Cancer	20164920	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
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12437200-12439400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr9:12438600-12438800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:12438800-12439000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr9:12438800-12439600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:12439200-12439600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:12439400-12439600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr9:12439400-12439600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr9:12439600-12440200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr9:12440200-12441000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:12440200-12443800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:12440600-12442200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr9:12440600-12442400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:12440800-12441200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr9:12440800-12441600	Enhancers	Fetal Brain Male	brain
15	chr9:12440800-12442200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr9:12441000-12441800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr9:12441200-12441400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr9:12441200-12441800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr9:12441200-12441800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr9:12441400-12441600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr9:12441400-12441800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:12441600-12442000	Weak transcription	Fetal Brain Male	brain
23	chr9:12441600-12444000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr9:12446200-12446400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr9:12447800-12448600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:12448600-12448800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr9:12448800-12449200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr9:12449600-12452200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr9:12456200-12456400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:12456400-12458800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:12456600-12457000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:12456600-12457200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr9:12457000-12460200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr9:12458800-12459000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:12459000-12460000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:12459600-12460200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:12459800-12460200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr9:12460000-12460400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:12460200-12460400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:12460200-12460400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr9:12460200-12460400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr9:12460200-12460600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr9:12460200-12462000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr9:12460200-12462400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr9:12460400-12461000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:12460400-12461400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr9:12460400-12461800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:12460400-12462200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:12460600-12461400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr9:12461000-12463800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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