Variant report

Variant	nsv613909
Chromosome Location	chr9:25325777-25352327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:24613953..24614528-chr9:25350122..25350850,2	MCF-7	breast:
2	chr9:25350133..25352434-chr9:25677647..25679713,3	MCF-7	breast:
3	chr9:25346387..25349185-chr9:25351167..25353046,2	MCF-7	breast:
4	chr9:25346387..25349185-chr9:25351167..25353046,2	MCF-7	breast:
5	chr9:25321931..25322446-chr9:25349957..25350559,2	MCF-7	breast:
6	chr9:25349920..25350511-chr9:25716130..25716944,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198680	chromatin interactions

Extended variants
information (count: 193 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1372874	chr9:25325777-25325778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145671155	chr9:25325814-25325815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551159495	chr9:25325820-25325821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1372873	chr9:25325829-25325830	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs527249461	chr9:25325894-25325895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1372872	chr9:25325895-25325896	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs189741481	chr9:25325909-25325910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535680889	chr9:25325960-25325961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182369298	chr9:25325988-25325989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1372871	chr9:25326019-25326020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs186525798	chr9:25326118-25326119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191342066	chr9:25326172-25326173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577979785	chr9:25326181-25326182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540259809	chr9:25326200-25326201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386733763	chr9:25326205-25326206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554060039	chr9:25326237-25326238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537106211	chr9:25326312-25326313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73642342	chr9:25326316-25326317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542906910	chr9:25326338-25326339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577135556	chr9:25326340-25326341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148118288	chr9:25326388-25326389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534491988	chr9:25334410-25334411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186237732	chr9:25334420-25334421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562984391	chr9:25334425-25334426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192209115	chr9:25334433-25334434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148338927	chr9:25334441-25334442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556921829	chr9:25334446-25334447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546183209	chr9:25334451-25334452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553484585	chr9:25334510-25334511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539357033	chr9:25334539-25334540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565734140	chr9:25334563-25334564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572706278	chr9:25334586-25334587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141528179	chr9:25334589-25334590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34953293	chr9:25347237-25347238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199614070	chr9:25347251-25347252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13302222	chr9:25347261-25347262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546049027	chr9:25347280-25347281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552906936	chr9:25347313-25347314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191068097	chr9:25347315-25347316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143763310	chr9:25347368-25347369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144023996	chr9:25347395-25347396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35322285	chr9:25347401-25347402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75011940	chr9:25347420-25347421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567318723	chr9:25347431-25347432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148675596	chr9:25347443-25347444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1758723	chr9:25347474-25347475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs141465785	chr9:25347477-25347478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571726275	chr9:25347479-25347480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4123620	chr9:25347484-25347485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376226820	chr9:25347522-25347523	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:143)

Disease	PMID	Source
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
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
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	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
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
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Lung cancer	21569311	CNVD
Pancreatic cancer	21811587	CNVD
Bipolar disorder	19114987	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:25325600-25326000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr9:25325800-25326200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr9:25325800-25326200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr9:25326000-25326400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:25334400-25334600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:25347200-25348400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr9:25350000-25350200	Enhancers	Fetal Brain Male	brain

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