Variant report

Variant	nsv982191
Chromosome Location	chr9:802956-805503
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:801986..804534-chr9:805350..807829,2	MCF-7	breast:
2	chr9:801986..804534-chr9:805350..807829,2	MCF-7	breast:
3	chr9:706377..708156-chr9:805249..808005,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107104	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:159 , 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	rs544455824	chr9:802982-802983	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs572067013	chr9:802991-802992	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs13288334	chr9:802999-803000	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs35396494	chr9:803003-803004	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs13285288	chr9:803008-803009	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543356537	chr9:803026-803027	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs554307766	chr9:803054-803055	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373173085	chr9:803064-803065	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs567611954	chr9:803078-803079	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs376376586	chr9:803079-803080	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs563242932	chr9:803081-803082	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs536663313	chr9:803091-803092	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs74910769	chr9:803095-803096	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs545815662	chr9:803134-803135	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs10976679	chr9:803158-803159	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143165833	chr9:803183-803184	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs180976795	chr9:803187-803188	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs78932677	chr9:803236-803237	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs531141314	chr9:803237-803238	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs551156492	chr9:803269-803270	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs368044409	chr9:803291-803292	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs377434205	chr9:803342-803343	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs571178433	chr9:803350-803351	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs551675079	chr9:803367-803368	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs10976681	chr9:803442-803443	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs76769238	chr9:803445-803446	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs184207683	chr9:803471-803472	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs146708045	chr9:803473-803474	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs574402669	chr9:803475-803476	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs10120425	chr9:803481-803482	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370736004	chr9:803493-803494	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs370873999	chr9:803497-803498	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545678330	chr9:803505-803506	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs10815720	chr9:803506-803507	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541813974	chr9:803507-803508	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs562223151	chr9:803522-803523	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs530993592	chr9:803567-803568	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs567501044	chr9:803579-803580	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs10119680	chr9:803606-803607	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs139374183	chr9:803614-803615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142722840	chr9:803619-803620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533700642	chr9:803623-803624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547301510	chr9:803625-803626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs60587682	chr9:803634-803635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561054184	chr9:803635-803636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565585733	chr9:803657-803658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140268895	chr9:803664-803665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181763385	chr9:803673-803674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568161605	chr9:803693-803694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186026096	chr9:803694-803695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	21272361	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:794600-809600	Weak transcription	Right Atrium	heart
2	chr9:801400-803600	Flanking Active TSS	HUVEC	blood vessel
3	chr9:802200-805000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:802400-803000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr9:802600-805000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:802800-804200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:802800-804200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:802800-805000	Weak transcription	NHEK	skin
9	chr9:802800-808800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:802800-811600	Weak transcription	HMEC	breast
11	chr9:803000-808800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:803600-804000	Enhancers	HUVEC	blood vessel
13	chr9:804000-804600	Flanking Active TSS	HUVEC	blood vessel
14	chr9:804200-804400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:804200-804400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:804400-804800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:804600-805800	Enhancers	HUVEC	blood vessel
18	chr9:804800-805600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:805000-805600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr9:805000-805600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:805000-805600	Enhancers	NHEK	skin

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