Variant report

Variant	nsv892833
Chromosome Location	chr9:25621151-25659613
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	chr9:25658961..25661673-chr9:25677638..25679152,2	MCF-7	breast:
4	chr9:25645039..25646926-chr9:25677771..25680040,2	MCF-7	breast:

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

Extended variants
information (count: 429 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571386363	chr9:25634605-25634606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538720945	chr9:25634627-25634628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368972604	chr9:25634632-25634633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557192197	chr9:25634634-25634635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575746029	chr9:25634689-25634690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542898128	chr9:25634696-25634697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7029676	chr9:25634704-25634705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573491887	chr9:25634779-25634780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371215953	chr9:25634810-25634811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182534872	chr9:25634864-25634865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146856154	chr9:25634883-25634884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576542601	chr9:25634884-25634885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200229416	chr9:25634885-25634886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112008354	chr9:25634886-25634887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112864082	chr9:25634887-25634888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373523489	chr9:25634900-25634901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74888117	chr9:25634901-25634902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374524478	chr9:25634909-25634910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368559637	chr9:25634936-25634937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371971122	chr9:25634951-25634952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375076696	chr9:25634963-25634964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185723638	chr9:25634965-25634966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151188542	chr9:25634990-25634991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563244362	chr9:25634998-25634999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7033159	chr9:25635013-25635014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548949458	chr9:25635027-25635028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111645745	chr9:25635076-25635077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190529715	chr9:25635138-25635139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528398114	chr9:25635168-25635169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111967148	chr9:25635170-25635171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138934769	chr9:25636018-25636019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559292372	chr9:25636035-25636036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4332219	chr9:25636074-25636075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538613005	chr9:25636075-25636076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4531139	chr9:25636098-25636099	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs149437625	chr9:25636106-25636107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76110735	chr9:25636144-25636145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527630964	chr9:25636215-25636216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547264851	chr9:25636221-25636222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111847886	chr9:25636223-25636224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560660991	chr9:25636230-25636231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374162129	chr9:25636233-25636234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75770133	chr9:25636239-25636240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540074977	chr9:25636240-25636241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112229054	chr9:25636253-25636254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564819139	chr9:25636260-25636261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144850662	chr9:25636374-25636375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201855732	chr9:25636389-25636390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550872948	chr9:25636390-25636391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562705426	chr9:25636392-25636393	Enhancers	n/a	n/a	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:25634600-25635200	Enhancers	HUVEC	blood vessel
2	chr9:25636000-25636400	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr9:25636200-25636400	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr9:25648000-25648400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:25648000-25648600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:25654000-25654600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:25654200-25655200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr9:25654400-25654800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr9:25654400-25655200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr9:25654600-25660000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:25654800-25656400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:25658400-25658800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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