Variant report

Variant	nsv613653
Chromosome Location	chr9:15590116-15668606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:15509144..15511285-chr9:15608383..15610950,2	MCF-7	breast:
2	chr9:15609722..15611520-chr9:15613088..15614614,2	MCF-7	breast:
3	chr9:15551543..15553297-chr9:15600119..15601625,2	MCF-7	breast:
4	chr9:15421567..15424446-chr9:15606338..15608598,2	MCF-7	breast:
5	chr9:15609722..15611520-chr9:15613088..15614614,2	MCF-7	breast:
6	chr9:15551936..15552629-chr9:15619996..15620642,2	MCF-7	breast:
7	chr9:15551939..15552527-chr9:15606365..15606962,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164985	chromatin interactions
ENSG00000164975	chromatin interactions
ENSG00000164989	chromatin interactions

Extended variants
information (count: 4253 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:4253 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3122705	chr9:15590116-15590117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77330823	chr9:15590182-15590183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546108163	chr9:15590206-15590207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558106968	chr9:15590215-15590216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573039391	chr9:15590219-15590220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374557798	chr9:15590284-15590285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192558300	chr9:15590296-15590297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570222848	chr9:15590362-15590363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529435042	chr9:15590376-15590377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544268888	chr9:15590404-15590405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562932511	chr9:15590408-15590409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540024073	chr9:15590427-15590428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551628897	chr9:15590449-15590450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553620374	chr9:15590477-15590478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527835673	chr9:15590479-15590480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78810034	chr9:15590506-15590507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550206101	chr9:15590516-15590517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184794490	chr9:15590544-15590545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539101070	chr9:15590546-15590547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535571822	chr9:15590571-15590572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75996731	chr9:15590624-15590625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577708463	chr9:15590674-15590675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377575052	chr9:15590692-15590693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371279697	chr9:15590755-15590756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202049673	chr9:15590770-15590771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568807878	chr9:15590780-15590781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs386361130	chr9:15590784-15590785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34215174	chr9:15590785-15590786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142467405	chr9:15590789-15590790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569676214	chr9:15590807-15590808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71506031	chr9:15590833-15590834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10217570	chr9:15590870-15590871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539079675	chr9:15590881-15590882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558041726	chr9:15590912-15590913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573177274	chr9:15590914-15590915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201088764	chr9:15590941-15590942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370956164	chr9:15590959-15590960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555640894	chr9:15590962-15590963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375756127	chr9:15591003-15591004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574031932	chr9:15591029-15591030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114736259	chr9:15591043-15591044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368808131	chr9:15591050-15591051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150855438	chr9:15591065-15591066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533319584	chr9:15591125-15591126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545006660	chr9:15591131-15591132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189378734	chr9:15591153-15591154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528021795	chr9:15591160-15591161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549150663	chr9:15591167-15591168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567877284	chr9:15591194-15591195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61341831	chr9:15591205-15591206	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
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
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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	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
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	19835627	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15553800-15592600	Weak transcription	Left Ventricle	heart
2	chr9:15554000-15590200	Weak transcription	Fetal Stomach	stomach
3	chr9:15579400-15590200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:15587000-15620400	Weak transcription	Pancreas	Pancrea
5	chr9:15588400-15597400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:15588600-15591200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:15588600-15600800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr9:15588600-15601000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr9:15589200-15609800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:15589400-15592200	Weak transcription	Fetal Thymus	thymus
11	chr9:15589400-15610600	Weak transcription	Thymus	Thymus
12	chr9:15591200-15592800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:15592200-15592800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr9:15592200-15592800	Enhancers	Fetal Thymus	thymus
15	chr9:15592400-15593400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr9:15592400-15593600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr9:15592400-15593600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr9:15592600-15592800	Enhancers	Left Ventricle	heart
19	chr9:15592600-15593400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:15592600-15593600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:15592800-15594200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:15592800-15600600	Weak transcription	Fetal Thymus	thymus
23	chr9:15592800-15614000	Weak transcription	Left Ventricle	heart
24	chr9:15593000-15593400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:15593000-15600800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr9:15594200-15595800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:15594600-15594800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:15594800-15595200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:15595800-15599000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:15599000-15600200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:15599000-15601400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:15599000-15617800	Weak transcription	Aorta	Aorta
33	chr9:15599600-15606200	Weak transcription	Fetal Lung	lung
34	chr9:15600200-15605800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:15600200-15614400	Weak transcription	Gastric	stomach
36	chr9:15600400-15600600	ZNF genes & repeats	Fetal Stomach	stomach
37	chr9:15600600-15601200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:15600600-15601200	ZNF genes & repeats	Fetal Thymus	thymus
39	chr9:15600600-15617600	Weak transcription	Fetal Stomach	stomach
40	chr9:15600800-15601000	Enhancers	Ovary	ovary
41	chr9:15600800-15601400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr9:15600800-15601600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr9:15601000-15601200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr9:15601000-15620000	Weak transcription	Ovary	ovary
45	chr9:15601200-15608000	Weak transcription	Fetal Thymus	thymus
46	chr9:15601200-15614000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr9:15601400-15601600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr9:15601400-15606000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr9:15601600-15605800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:15605800-15606200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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