Variant report

Variant	esv2761500
Chromosome Location	chr9:12415123-12452027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:10855600..10856394-chr9:12425953..12426703,2	MCF-7	breast:
2	chr9:12425929..12426463-chr9:12464660..12465379,2	MCF-7	breast:
3	chr1:186649939..186650766-chr9:12429991..12430491,2	Hela-S3	cervix:

Extended variants
information (count: 775 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:775 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6474712	chr9:12415123-12415124	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551788455	chr9:12415142-12415143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568600020	chr9:12415146-12415147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74535084	chr9:12415166-12415167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554247252	chr9:12415174-12415175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115039148	chr9:12415282-12415283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534006522	chr9:12415340-12415341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114119714	chr9:12415348-12415349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577097427	chr9:12415369-12415370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545406406	chr9:12415389-12415390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139428206	chr9:12415408-12415409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149637625	chr9:12415422-12415423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7041480	chr9:12415436-12415437	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553776420	chr9:12415456-12415457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187475256	chr9:12415511-12415512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530202085	chr9:12415529-12415530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192026587	chr9:12415578-12415579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185844915	chr9:12415580-12415581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372564265	chr9:12415646-12415647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374618157	chr9:12415666-12415667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532706038	chr9:12415667-12415668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144362052	chr9:12415679-12415680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568465008	chr9:12415706-12415707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537456559	chr9:12415764-12415765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552322591	chr9:12415772-12415773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547943982	chr9:12415780-12415781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569339551	chr9:12415781-12415782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568167770	chr9:12415874-12415875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533724738	chr9:12415890-12415891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576855122	chr9:12415917-12415918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6474713	chr9:12415918-12415919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs34225095	chr9:12415937-12415938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190367255	chr9:12415953-12415954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193214881	chr9:12415984-12415985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371553956	chr9:12415990-12415991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7044903	chr9:12416079-12416080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148770740	chr9:12416081-12416082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114953905	chr9:12416100-12416101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558703364	chr9:12416113-12416114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574907447	chr9:12416125-12416126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540457811	chr9:12416132-12416133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6474714	chr9:12416136-12416137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184415282	chr9:12416155-12416156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188177745	chr9:12416168-12416169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76621200	chr9:12416182-12416183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531178046	chr9:12416205-12416206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565236991	chr9:12416206-12416207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139165595	chr9:12416256-12416257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568048500	chr9:12416273-12416274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527423164	chr9:12416283-12416284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12414000-12415600	Enhancers	Fetal Kidney	kidney
2	chr9:12414400-12415600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:12414800-12416200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:12415000-12415600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:12415000-12416200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:12415600-12417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:12415600-12418800	Weak transcription	Fetal Kidney	kidney
8	chr9:12416200-12417000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:12416400-12417600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:12416800-12418200	Enhancers	Brain Germinal Matrix	brain
11	chr9:12416800-12418200	Enhancers	Fetal Brain Male	brain
12	chr9:12417400-12417600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:12423200-12426600	Enhancers	HUVEC	blood vessel
14	chr9:12425800-12426600	Enhancers	Fetal Brain Female	brain
15	chr9:12426000-12426400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:12426000-12426600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:12426000-12426600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr9:12426000-12426600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr9:12426000-12426600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr9:12426000-12426600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:12426000-12426600	Enhancers	Fetal Kidney	kidney
22	chr9:12426000-12426800	Enhancers	Fetal Brain Male	brain
23	chr9:12426400-12426800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr9:12437200-12439400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr9:12438600-12438800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr9:12438800-12439000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr9:12438800-12439600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:12439200-12439600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr9:12439400-12439600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr9:12439400-12439600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr9:12439600-12440200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr9:12440200-12441000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr9:12440200-12443800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr9:12440600-12442200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr9:12440600-12442400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr9:12440800-12441200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr9:12440800-12441600	Enhancers	Fetal Brain Male	brain
38	chr9:12440800-12442200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr9:12441000-12441800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr9:12441200-12441400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr9:12441200-12441800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr9:12441200-12441800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr9:12441400-12441600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr9:12441400-12441800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:12441600-12442000	Weak transcription	Fetal Brain Male	brain
46	chr9:12441600-12444000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr9:12446200-12446400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr9:12447800-12448600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr9:12448600-12448800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr9:12448800-12449200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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