Variant report

Variant	nsv613409
Chromosome Location	chr9:10863514-10923290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:59389836..59390496-chr9:10867919..10868419,2	MCF-7	breast:

Extended variants
information (count: 1114 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1114 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113030693	chr9:10869614-10869615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573801093	chr9:10869623-10869624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536018791	chr9:10869627-10869628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553086224	chr9:10869628-10869629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191018410	chr9:10869833-10869834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149279627	chr9:10869871-10869872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3904266	chr9:10869878-10869879	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183138316	chr9:10869921-10869922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544621454	chr9:10869925-10869926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35924376	chr9:10869988-10869989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548130572	chr9:10869995-10869996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141537094	chr9:10869999-10870000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144482578	chr9:10870043-10870044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568233929	chr9:10870053-10870054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530262703	chr9:10870061-10870062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73395057	chr9:10870128-10870129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188173899	chr9:10870156-10870157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528195264	chr9:10870162-10870163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116104238	chr9:10870192-10870193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148408060	chr9:10870195-10870196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373131913	chr9:10870230-10870231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142491353	chr9:10870247-10870248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567536449	chr9:10870277-10870278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192180081	chr9:10870302-10870303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182759311	chr9:10870361-10870362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147643445	chr9:10870392-10870393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537076111	chr9:10870397-10870398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143629947	chr9:10872020-10872021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs534251595	chr9:10872021-10872022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs547834520	chr9:10872028-10872029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs7021175	chr9:10872034-10872035	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138208467	chr9:10872038-10872039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs117685257	chr9:10872039-10872040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs376750084	chr9:10872052-10872053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs535838915	chr9:10872053-10872054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs143100116	chr9:10872071-10872072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs554282031	chr9:10872104-10872105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs77487902	chr9:10872109-10872110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs145152703	chr9:10872117-10872118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs138978967	chr9:10872124-10872125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs189324697	chr9:10872128-10872129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs546124475	chr9:10872169-10872170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs562617640	chr9:10872186-10872187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs553446183	chr9:10872441-10872442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs576799331	chr9:10872454-10872455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs545465782	chr9:10872472-10872473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs61528450	chr9:10872523-10872524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs532044941	chr9:10872536-10872537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs181656931	chr9:10872567-10872568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs185941608	chr9:10872580-10872581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10869600-10870200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr9:10869600-10870200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr9:10869600-10870400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr9:10869800-10870400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:10872000-10872200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr9:10872400-10873000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:10873000-10876400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:10875000-10877200	Enhancers	HUVEC	blood vessel
9	chr9:10875200-10876400	Enhancers	Hela-S3	cervix
10	chr9:10875600-10877000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:10875800-10877000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:10876000-10876200	Enhancers	Stomach Mucosa	stomach
13	chr9:10876000-10876800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:10876200-10877000	Weak transcription	Stomach Mucosa	stomach
15	chr9:10876400-10876600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:10876400-10876800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:10877000-10878200	Enhancers	Stomach Mucosa	stomach
18	chr9:10881400-10882400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:10887200-10887400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
20	chr9:10887400-10888600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr9:10888600-10889000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr9:10888800-10889400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr9:10889400-10889800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:10889800-10891000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr9:10890600-10890800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr9:10891000-10891600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr9:10891400-10891600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:10903200-10905000	Enhancers	HUVEC	blood vessel
29	chr9:10909000-10909200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr9:10909800-10910000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr9:10910800-10911200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:10910800-10911200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:10913400-10913800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr9:10913600-10913800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr9:10913800-10915400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr9:10915400-10915800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr9:10915400-10916000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr9:10915400-10916000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr9:10915400-10916000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr9:10915600-10916000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:10915600-10916200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:10915800-10916200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr9:10916000-10921400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr9:10916000-10921600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr9:10916000-10921600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr9:10921200-10921400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr9:10921400-10921600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr9:10921400-10921800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr9:10921400-10921800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr9:10921400-10921800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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