Variant report

Variant	esv3393385
Chromosome Location	chr9:12845352-12846600
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	chr9:12833643..12836403-chr9:12844199..12845787,2	MCF-7	breast:
2	chr9:12843895..12846216-chr9:12850267..12852861,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188106998	chr9:12845357-12845358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552764253	chr9:12845390-12845391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192643879	chr9:12845405-12845406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569463973	chr9:12845444-12845445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149551573	chr9:12845459-12845460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554345071	chr9:12845462-12845463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533621806	chr9:12845488-12845489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184436184	chr9:12845531-12845532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550434614	chr9:12845585-12845586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs398010323	chr9:12845635-12845636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533521282	chr9:12845661-12845662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549964380	chr9:12845691-12845692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371640034	chr9:12845723-12845724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373286146	chr9:12845725-12845726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188912498	chr9:12845733-12845734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576679518	chr9:12845785-12845786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192532598	chr9:12845860-12845861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34105954	chr9:12845918-12845919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397894501	chr9:12845920-12845921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577345569	chr9:12845940-12845941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12553380	chr9:12845986-12845987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13287898	chr9:12846004-12846005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs16923061	chr9:12846053-12846054	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371454330	chr9:12846059-12846060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs635655	chr9:12846077-12846078	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs530232224	chr9:12846092-12846093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546628312	chr9:12846159-12846160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560492683	chr9:12846245-12846246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143232215	chr9:12846249-12846250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7867037	chr9:12846250-12846251	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs184182916	chr9:12846257-12846258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569597904	chr9:12846291-12846292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10491740	chr9:12846310-12846311	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs484901	chr9:12846345-12846346	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188929656	chr9:12846359-12846360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533889741	chr9:12846375-12846376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370449832	chr9:12846394-12846395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181678329	chr9:12846429-12846430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570107133	chr9:12846447-12846448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs483855	chr9:12846491-12846492	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs142027175	chr9:12846498-12846499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184826663	chr9:12846516-12846517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189715885	chr9:12846521-12846522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180790801	chr9:12846533-12846534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375120166	chr9:12846579-12846580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
abnormal development	18461090	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12844600-12849400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr9:12846000-12846600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:12846000-12846800	Enhancers	NHDF-Ad	bronchial
4	chr9:12846200-12846800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:12846200-12847000	Enhancers	Fetal Intestine Large	intestine
6	chr9:12846200-12849800	Weak transcription	Colon Smooth Muscle	Colon
7	chr9:12846600-12847600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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