Variant report

Variant	nsv613605
Chromosome Location	chr9:12340857-12483221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:116381055..116381867-chr9:12405688..12406208,2	Hela-S3	cervix:
2	chr9:12425929..12426463-chr9:12464660..12465379,2	MCF-7	breast:
3	chr9:10855600..10856394-chr9:12425953..12426703,2	MCF-7	breast:
4	chr1:186649939..186650766-chr9:12429991..12430491,2	Hela-S3	cervix:
5	chr8:43095234..43095797-chr9:12480274..12480774,2	MCF-7	breast:
6	chr9:12425929..12426463-chr9:12464660..12465379,2	MCF-7	breast:

Extended variants
information (count: 2598 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2598 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2094789	chr9:12340857-12340858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561246697	chr9:12340880-12340881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530153343	chr9:12340886-12340887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546989774	chr9:12340928-12340929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150842757	chr9:12340932-12340933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs36232687	chr9:12340933-12340934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541502697	chr9:12340944-12340945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73648128	chr9:12340950-12340951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566804520	chr9:12340963-12340964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552604430	chr9:12340993-12340994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190770851	chr9:12350815-12350816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183001049	chr9:12350822-12350823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79341482	chr9:12350859-12350860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549573693	chr9:12350860-12350861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554278382	chr9:12350873-12350874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548946991	chr9:12350879-12350880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563402654	chr9:12350908-12350909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529052854	chr9:12350942-12350943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113789404	chr9:12350961-12350962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565623518	chr9:12350972-12350973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534632009	chr9:12350986-12350987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7869172	chr9:12350993-12350994	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7872248	chr9:12351004-12351005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539829128	chr9:12351013-12351014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373505246	chr9:12351045-12351046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4741220	chr9:12351048-12351049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576501513	chr9:12351056-12351057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35228496	chr9:12351066-12351067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188073172	chr9:12351075-12351076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556028670	chr9:12351080-12351081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572752486	chr9:12351132-12351133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541790549	chr9:12351135-12351136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564059921	chr9:12351152-12351153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577668364	chr9:12351206-12351207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111803862	chr9:12351225-12351226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6474706	chr9:12351246-12351247	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs77996113	chr9:12351255-12351256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561664455	chr9:12351256-12351257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368307423	chr9:12351275-12351276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569354420	chr9:12351297-12351298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192301524	chr9:12351337-12351338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551221541	chr9:12351338-12351339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73396720	chr9:12351342-12351343	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs539421313	chr9:12351343-12351344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78286714	chr9:12351363-12351364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs367767265	chr9:12351383-12351384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570033434	chr9:12351403-12351404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535971466	chr9:12351415-12351416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77666914	chr9:12351428-12351429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183666657	chr9:12351442-12351443	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	21215367	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12340600-12341000	Enhancers	Liver	Liver
2	chr9:12350800-12352400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:12351600-12352800	Enhancers	Fetal Brain Male	brain
4	chr9:12354400-12354600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:12354600-12357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:12357400-12357600	Genic enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:12357600-12360800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:12360200-12362400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:12362000-12362400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr9:12362200-12363400	Enhancers	Fetal Heart	heart
11	chr9:12368600-12369000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr9:12373200-12374200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:12389800-12391000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:12390600-12390800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:12391000-12392000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:12391000-12394000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:12392000-12393000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:12392400-12395000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:12394000-12394600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:12394000-12395000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:12400800-12401800	Enhancers	Fetal Kidney	kidney
22	chr9:12402400-12403000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr9:12404000-12404200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:12414000-12415600	Enhancers	Fetal Kidney	kidney
25	chr9:12414200-12414600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr9:12414400-12415600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:12414600-12414800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:12414800-12416200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:12415000-12415600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:12415000-12416200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:12415600-12417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:12415600-12418800	Weak transcription	Fetal Kidney	kidney
33	chr9:12416200-12417000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:12416400-12417600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:12416800-12418200	Enhancers	Brain Germinal Matrix	brain
36	chr9:12416800-12418200	Enhancers	Fetal Brain Male	brain
37	chr9:12417400-12417600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:12423200-12426600	Enhancers	HUVEC	blood vessel
39	chr9:12425800-12426600	Enhancers	Fetal Brain Female	brain
40	chr9:12426000-12426400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:12426000-12426600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:12426000-12426600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr9:12426000-12426600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr9:12426000-12426600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr9:12426000-12426600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:12426000-12426600	Enhancers	Fetal Kidney	kidney
47	chr9:12426000-12426800	Enhancers	Fetal Brain Male	brain
48	chr9:12426400-12426800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr9:12437200-12439400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr9:12438600-12438800	Weak transcription	H9 Cell Line	embryonic stem cell

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