Variant report

Variant	esv1828681
Chromosome Location	chr9:12540358-12628213
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:12554435..12555308-chr9:12639713..12640600,2	MCF-7	breast:
2	chr9:12615022..12617476-chr9:12617492..12619010,2	MCF-7	breast:
3	chr9:12607055..12609983-chr9:12671838..12674027,2	K562	blood:
4	chr9:12615022..12617476-chr9:12617492..12619010,2	MCF-7	breast:

Extended variants
information (count: 1026 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1026 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12235745	chr9:12540358-12540359	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548529674	chr9:12540546-12540547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565440163	chr9:12540580-12540581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550320794	chr9:12540604-12540605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569918306	chr9:12540637-12540638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534385654	chr9:12540644-12540645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557548904	chr9:12540658-12540659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577451309	chr9:12540670-12540671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535708585	chr9:12540711-12540712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76385811	chr9:12540715-12540716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182010035	chr9:12540762-12540763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542220338	chr9:12540763-12540764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186223902	chr9:12540777-12540778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147670786	chr9:12540783-12540784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141039189	chr9:12540786-12540787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71329860	chr9:12540789-12540790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562017420	chr9:12540794-12540795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144807180	chr9:12540800-12540801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12004185	chr9:12540850-12540851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs564547607	chr9:12540882-12540883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188120458	chr9:12540900-12540901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181357559	chr9:12540907-12540908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151307639	chr9:12540908-12540909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185500969	chr9:12540932-12540933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140588753	chr9:12540933-12540934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150065718	chr9:12540954-12540955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578018656	chr9:12540997-12540998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565303067	chr9:12541045-12541046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528062467	chr9:12541058-12541059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7038126	chr9:12541075-12541076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs145153184	chr9:12541100-12541101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76780741	chr9:12541115-12541116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556841142	chr9:12541170-12541171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189968962	chr9:12541179-12541180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77067474	chr9:12541189-12541190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181606902	chr9:12541202-12541203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186656330	chr9:12541233-12541234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541430597	chr9:12541242-12541243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558321617	chr9:12541255-12541256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114064507	chr9:12541298-12541299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114703574	chr9:12541299-12541300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563702210	chr9:12541341-12541342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529605066	chr9:12541346-12541347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376281644	chr9:12541361-12541362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs60771076	chr9:12541362-12541363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs192428222	chr9:12541405-12541406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1325136	chr9:12541438-12541439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373150849	chr9:12541460-12541461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1325137	chr9:12541481-12541482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571330822	chr9:12541484-12541485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12539600-12540400	Enhancers	Fetal Lung	lung
2	chr9:12540200-12544600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr9:12540400-12540800	Enhancers	Pancreas	Pancrea
4	chr9:12544400-12544600	Enhancers	Brain Germinal Matrix	brain
5	chr9:12544600-12546400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr9:12544800-12545400	Weak transcription	Brain Germinal Matrix	brain
7	chr9:12544800-12545800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr9:12545400-12546400	Enhancers	Brain Germinal Matrix	brain
9	chr9:12546000-12546400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:12555400-12556200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:12555400-12556800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:12559600-12560000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:12560000-12560400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr9:12566800-12567400	Enhancers	Stomach Mucosa	stomach
15	chr9:12595600-12596000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:12598800-12599800	Enhancers	Fetal Heart	heart
17	chr9:12599800-12604000	Weak transcription	Fetal Heart	heart
18	chr9:12604000-12604400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:12604000-12604600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr9:12604000-12604600	Enhancers	HMEC	breast
21	chr9:12604000-12605200	Enhancers	Fetal Heart	heart
22	chr9:12604000-12605200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr9:12604200-12604600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:12604200-12604600	Enhancers	Psoas Muscle	Psoas
25	chr9:12604600-12605800	Weak transcription	Psoas Muscle	Psoas
26	chr9:12606000-12606200	Enhancers	Psoas Muscle	Psoas
27	chr9:12612200-12613000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:12612600-12613800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:12615600-12615800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:12615600-12615800	Enhancers	Fetal Lung	lung
31	chr9:12615800-12616600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:12616600-12617200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:12624600-12625000	Enhancers	Fetal Kidney	kidney
34	chr9:12625000-12629200	Weak transcription	Fetal Kidney	kidney
35	chr9:12626600-12626800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr9:12626800-12627800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr9:12626800-12629000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr9:12627000-12627600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr9:12627000-12627800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr9:12627000-12627800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:12627200-12627400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:12627200-12627800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr9:12627400-12628800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:12627600-12627800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr9:12627600-12627800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr9:12627600-12628000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr9:12627600-12629000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr9:12627800-12628000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr9:12627800-12628000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:12627800-12629000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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