Variant report

Variant	esv3329373
Chromosome Location	chr9:12930464-12931065
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576064820	chr9:12930464-12930465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148213697	chr9:12930467-12930468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184222290	chr9:12930471-12930472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186755335	chr9:12930476-12930477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113245822	chr9:12930521-12930522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139020283	chr9:12930522-12930523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530669491	chr9:12930523-12930524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72704571	chr9:12930524-12930525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55808405	chr9:12930532-12930533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58490963	chr9:12930543-12930544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397935495	chr9:12930553-12930554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201073713	chr9:12930554-12930555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572209572	chr9:12930576-12930577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541326543	chr9:12930580-12930581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564225037	chr9:12930602-12930603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141221131	chr9:12930645-12930646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527750363	chr9:12930657-12930658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192007742	chr9:12930682-12930683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1332062	chr9:12930703-12930704	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs56229042	chr9:12930735-12930736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74644453	chr9:12930771-12930772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182620052	chr9:12930803-12930804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568451584	chr9:12930820-12930821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527934003	chr9:12930825-12930826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547730055	chr9:12930860-12930861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150658864	chr9:12930867-12930868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539679292	chr9:12930893-12930894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139908278	chr9:12930895-12930896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569619918	chr9:12930907-12930908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375691737	chr9:12930941-12930942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535549478	chr9:12930972-12930973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17264621	chr9:12930974-12930975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368203394	chr9:12930993-12930994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7854690	chr9:12931007-12931008	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs558121102	chr9:12931022-12931023	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577892632	chr9:12931030-12931031	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543617023	chr9:12931040-12931041	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531640943	chr9:12931041-12931042	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12917000-12933600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr9:12917200-12934000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr9:12917400-12933600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:12922800-12931000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:12924000-12931000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:12924800-12933800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:12925400-12933200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:12925400-12933400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:12925400-12934200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:12930000-12931000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr9:12930000-12932200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:12930200-12931400	Enhancers	NHDF-Ad	bronchial
13	chr9:12930200-12931800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:12930600-12931000	Weak transcription	NHLF	lung
15	chr9:12930800-12931000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:12930800-12931000	Enhancers	HUVEC	blood vessel
17	chr9:12930800-12931200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:12930800-12931400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:12930800-12932200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:12931000-12931200	Enhancers	NHEK	skin
21	chr9:12931000-12931200	Enhancers	NHLF	lung
22	chr9:12931000-12931200	Enhancers	Osteobl	bone
23	chr9:12931000-12931400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr9:12931000-12931600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:12931000-12932200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:12931000-12932200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:12931000-12932200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:12931000-12932600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:12931000-12934000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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