Variant report

Variant	nsv613918
Chromosome Location	chr9:25638009-25667662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:25654596..25657543-chr9:25679072..25681008,2	MCF-7	breast:
2	chr21:45758364..45760200-chr9:25657348..25658849,2	MCF-7	breast:
3	chr9:25664021..25666834-chr9:25677029..25679004,2	MCF-7	breast:
4	chr9:25658961..25661673-chr9:25677638..25679152,2	MCF-7	breast:
5	chr9:25662809..25665496-chr9:25677024..25678546,2	MCF-7	breast:
6	chr9:25645039..25646926-chr9:25677771..25680040,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232969	chromatin interactions
ENSG00000198680	chromatin interactions
ENSG00000160226	chromatin interactions

Extended variants
information (count: 604 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:604 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369362562	chr9:25645044-25645045	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551661869	chr9:25645199-25645200	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79821093	chr9:25645211-25645212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113216435	chr9:25645252-25645253	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375841799	chr9:25645284-25645285	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549056540	chr9:25645317-25645318	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183368369	chr9:25645334-25645335	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs149979388	chr9:25645335-25645336	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10812291	chr9:25645385-25645386	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs373919443	chr9:25645391-25645392	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377628220	chr9:25645392-25645393	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs55820753	chr9:25645393-25645394	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs71304838	chr9:25645413-25645414	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs578136547	chr9:25645439-25645440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571441872	chr9:25645443-25645444	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538924608	chr9:25645461-25645462	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557639826	chr9:25645493-25645494	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576107261	chr9:25645517-25645518	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7023378	chr9:25645519-25645520	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs55650081	chr9:25645535-25645536	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs71497785	chr9:25645552-25645553	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573747815	chr9:25645561-25645562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187615129	chr9:25645607-25645608	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7039975	chr9:25645622-25645623	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575236055	chr9:25645728-25645729	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs7024004	chr9:25645753-25645754	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs7023792	chr9:25645765-25645766	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192509294	chr9:25645815-25645816	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549852740	chr9:25645867-25645868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201801847	chr9:25645888-25645889	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs139668772	chr9:25645889-25645890	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201004784	chr9:25645890-25645891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs67804814	chr9:25645891-25645892	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs78342779	chr9:25645892-25645893	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs202003935	chr9:25645893-25645894	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200448207	chr9:25645894-25645895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs530799055	chr9:25645897-25645898	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs548995122	chr9:25645914-25645915	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559431158	chr9:25645954-25645955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532693677	chr9:25645963-25645964	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs567345381	chr9:25645966-25645967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs62531347	chr9:25645969-25645970	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs559506792	chr9:25646087-25646088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547082652	chr9:25646102-25646103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146538964	chr9:25646107-25646108	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539270407	chr9:25646108-25646109	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs141234478	chr9:25646118-25646119	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs10124248	chr9:25646121-25646122	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs536964975	chr9:25646164-25646165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555365497	chr9:25646166-25646167	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	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
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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	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
Esophageal adenocarcinoma	18519675	CNVD
Pancreatic cancer	21811587	CNVD
Bipolar disorder	19114987	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:25648000-25648400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr9:25648000-25648600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:25654000-25654600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:25654200-25655200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:25654400-25654800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr9:25654400-25655200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr9:25654600-25660000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:25654800-25656400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:25658400-25658800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:25665400-25665800	Active TSS	Placenta	Placenta

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