Variant report

Variant	nsv613265
Chromosome Location	chr9:7493198-7577893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:7488272..7490593-chr9:7498267..7499824,2	MCF-7	breast:
2	chr9:7570819..7572380-chr9:7577523..7579697,2	K562	blood:
3	chr9:7052337..7053367-chr9:7536144..7537120,3	MCF-7	breast:
4	chr9:7569797..7570734-chr9:8895690..8896630,4	MCF-7	breast:
5	chr9:7569899..7570770-chr9:7827280..7828131,4	MCF-7	breast:
6	chr9:7570819..7572380-chr9:7577523..7579697,2	K562	blood:
7	chr9:7401751..7402674-chr9:7535710..7536817,3	MCF-7	breast:
8	chr9:7526587..7529247-chr9:7794978..7796914,2	MCF-7	breast:
9	chr9:7569880..7570683-chr9:8895710..8896327,2	MCF-7	breast:

No data

Extended variants
information (count: 2808 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2808 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10119703	chr9:7493198-7493199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368606065	chr9:7493237-7493238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140059942	chr9:7493245-7493246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571844172	chr9:7493252-7493253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192273473	chr9:7493288-7493289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546931780	chr9:7493292-7493293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556950911	chr9:7493330-7493331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566038122	chr9:7493336-7493337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112655869	chr9:7493341-7493342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113834831	chr9:7493353-7493354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112245317	chr9:7493364-7493365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534709878	chr9:7493371-7493372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73403751	chr9:7493398-7493399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78931300	chr9:7493437-7493438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565125502	chr9:7493447-7493448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558180170	chr9:7493478-7493479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143817228	chr9:7493493-7493494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114607949	chr9:7493524-7493525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563313450	chr9:7493573-7493574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189726368	chr9:7493603-7493604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548999454	chr9:7493675-7493676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372287248	chr9:7493676-7493677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145787451	chr9:7493678-7493679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537585966	chr9:7493679-7493680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148587767	chr9:7493707-7493708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565010077	chr9:7493770-7493771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34965709	chr9:7493837-7493838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576843085	chr9:7493867-7493868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557111528	chr9:7493896-7493897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142995697	chr9:7493941-7493942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113261162	chr9:7493967-7493968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543564351	chr9:7493994-7493995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538936789	chr9:7494013-7494014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76620962	chr9:7494021-7494022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542880944	chr9:7494023-7494024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368820498	chr9:7494030-7494031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72693151	chr9:7494036-7494037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2381614	chr9:7494063-7494064	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs563222870	chr9:7494102-7494103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554655521	chr9:7494134-7494135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538536414	chr9:7494153-7494154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540330180	chr9:7494160-7494161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558418234	chr9:7494162-7494163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181148991	chr9:7494193-7494194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544065716	chr9:7494222-7494223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562425513	chr9:7494283-7494284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151115369	chr9:7494291-7494292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76373461	chr9:7494295-7494296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79008274	chr9:7494297-7494298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141987521	chr9:7494298-7494299	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
Developmental delay	21147756	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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7490400-7493800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:7493800-7494400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:7493800-7494600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:7503400-7503800	Enhancers	Ovary	ovary
5	chr9:7506600-7508200	Enhancers	Fetal Heart	heart
6	chr9:7507000-7511400	Enhancers	Fetal Lung	lung
7	chr9:7507400-7507800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:7507600-7508200	Enhancers	Left Ventricle	heart
9	chr9:7507800-7509600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:7508200-7510200	Weak transcription	Left Ventricle	heart
11	chr9:7509800-7510000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:7509800-7510000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:7509800-7510000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:7510000-7510200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:7510000-7510200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:7510000-7510400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:7510000-7510600	Enhancers	Ovary	ovary
18	chr9:7510200-7510400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:7510200-7510400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:7510200-7510400	Enhancers	Left Ventricle	heart
21	chr9:7510400-7510600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:7510400-7510800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:7511000-7511200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:7511400-7511800	Weak transcription	Fetal Lung	lung
25	chr9:7511800-7512000	Enhancers	Fetal Lung	lung
26	chr9:7512000-7515800	Weak transcription	Fetal Lung	lung
27	chr9:7514600-7515600	Enhancers	Fetal Heart	heart
28	chr9:7515800-7517200	Enhancers	Fetal Lung	lung
29	chr9:7516200-7516800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:7516200-7517000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr9:7517200-7519400	Weak transcription	Fetal Lung	lung
32	chr9:7519400-7520000	Enhancers	Fetal Lung	lung
33	chr9:7520000-7522800	Weak transcription	Fetal Lung	lung
34	chr9:7522800-7523200	Enhancers	Fetal Brain Male	brain
35	chr9:7522800-7523400	Enhancers	Fetal Lung	lung
36	chr9:7523000-7523800	Enhancers	Fetal Heart	heart
37	chr9:7523200-7524000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:7523600-7523800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr9:7523600-7524000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:7530400-7530800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr9:7532000-7532600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr9:7534000-7535600	Enhancers	Dnd41	blood
43	chr9:7534600-7534800	Enhancers	Fetal Thymus	thymus
44	chr9:7534600-7535000	Enhancers	Fetal Lung	lung
45	chr9:7534600-7535000	Enhancers	Fetal Muscle Leg	muscle
46	chr9:7534800-7535000	Enhancers	Right Atrium	heart
47	chr9:7535000-7542800	Weak transcription	Fetal Lung	lung
48	chr9:7536200-7537000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr9:7536200-7537000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr9:7536600-7536800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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