Variant report

Variant	esv3341110
Chromosome Location	chr9:806752-811050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:613518..614436-chr9:806263..806822,2	MCF-7	breast:
2	chr9:613650..614569-chr9:806256..807252,7	MCF-7	breast:
3	chr9:347478..348338-chr9:806313..807172,2	MCF-7	breast:
4	chr9:581821..582545-chr9:807512..808214,2	MCF-7	breast:
5	chr9:763806..764607-chr9:806256..807153,5	MCF-7	breast:
6	chr9:706377..708156-chr9:805249..808005,2	MCF-7	breast:
7	chr9:763791..764994-chr9:806035..807196,9	MCF-7	breast:
8	chr9:801986..804534-chr9:805350..807829,2	MCF-7	breast:
9	chr9:796752..799581-chr9:806597..809420,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107104	chromatin interactions

Extended variants
information (count: 242 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62531366	chr9:806752-806753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572003112	chr9:806792-806793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs541234905	chr9:806796-806797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116197887	chr9:806800-806801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554312727	chr9:806803-806804	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540180114	chr9:806826-806827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574418396	chr9:806849-806850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs367788785	chr9:806858-806859	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77153436	chr9:806871-806872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563381592	chr9:806884-806885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146186678	chr9:806885-806886	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116640593	chr9:806889-806890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559813917	chr9:806894-806895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528552156	chr9:806909-806910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs35469085	chr9:806912-806913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs116860858	chr9:806924-806925	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368056357	chr9:806944-806945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs56077577	chr9:806951-806952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs115720025	chr9:806976-806977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs181117635	chr9:806990-806991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538635370	chr9:806995-806996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551850752	chr9:806996-806997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565788240	chr9:807000-807001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534396968	chr9:807002-807003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186246248	chr9:807003-807004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs13299350	chr9:807004-807005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs114955828	chr9:807043-807044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536994776	chr9:807094-807095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs34212511	chr9:807095-807096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs117237572	chr9:807107-807108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35576952	chr9:807130-807131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376571328	chr9:807147-807148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189832607	chr9:807163-807164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527942372	chr9:807201-807202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553093549	chr9:807213-807214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559468131	chr9:807237-807238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs34585632	chr9:807285-807286	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs34498320	chr9:807310-807311	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs562317223	chr9:807374-807375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531134328	chr9:807379-807380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551156530	chr9:807414-807415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564814388	chr9:807427-807428	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533428147	chr9:807428-807429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552176406	chr9:807432-807433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs77922640	chr9:807433-807434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7043658	chr9:807449-807450	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs547877174	chr9:807464-807465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs139126476	chr9:807471-807472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536864619	chr9:807493-807494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs73639423	chr9:807518-807519	Weak transcription	Chromatin interactive region	1 gene(s)	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:794600-809600	Weak transcription	Right Atrium	heart
2	chr9:802800-808800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:802800-811600	Weak transcription	HMEC	breast
4	chr9:803000-808800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr9:805600-810200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:805600-810600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:805600-810800	Weak transcription	NHEK	skin
8	chr9:806200-806800	Enhancers	Dnd41	blood
9	chr9:806200-806800	Enhancers	HUVEC	blood vessel
10	chr9:806400-807200	Enhancers	HepG2	liver
11	chr9:806800-807000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:807000-810200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:808800-809000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:808800-809200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:808800-809200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
16	chr9:809000-809200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:809200-811200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:810200-811400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:810200-811800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:810400-811000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:810400-811800	Enhancers	Colon Smooth Muscle	Colon
22	chr9:810400-811800	Enhancers	A549	lung
23	chr9:810600-811400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:810600-811800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:810800-811600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:810800-811800	Enhancers	NHEK	skin
27	chr9:811000-811800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:811000-811800	Enhancers	Muscle Satellite Cultured Cells	--

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