Variant report

Variant	esv3439330
Chromosome Location	chr9:13957152-13959450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538612535	chr9:13957160-13957161	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs558703815	chr9:13957165-13957166	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568934095	chr9:13957168-13957169	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537694667	chr9:13957170-13957171	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs557261557	chr9:13957239-13957240	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs78366285	chr9:13957276-13957277	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs542926750	chr9:13957302-13957303	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs190867844	chr9:13957314-13957315	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs114540651	chr9:13957319-13957320	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs544961305	chr9:13957333-13957334	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs75149224	chr9:13957353-13957354	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs34438293	chr9:13957373-13957374	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs77001921	chr9:13957397-13957398	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113197667	chr9:13957475-13957476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574115373	chr9:13957503-13957504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546940313	chr9:13957523-13957524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56045419	chr9:13957545-13957546	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183377304	chr9:13957551-13957552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552156658	chr9:13957584-13957585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568972358	chr9:13957589-13957590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537526334	chr9:13957676-13957677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557556342	chr9:13957688-13957689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188588916	chr9:13957689-13957690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140661788	chr9:13957699-13957700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553260161	chr9:13957702-13957703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76492423	chr9:13957712-13957713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538694841	chr9:13957730-13957731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55964819	chr9:13957768-13957769	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575727862	chr9:13957769-13957770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530065688	chr9:13957777-13957778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544357189	chr9:13957782-13957783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56021345	chr9:13957797-13957798	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574563914	chr9:13957821-13957822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540390340	chr9:13957822-13957823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12343984	chr9:13957914-13957915	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs532436544	chr9:13957976-13957977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552234172	chr9:13957977-13957978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562320804	chr9:13957991-13957992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531305258	chr9:13957996-13957997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547996202	chr9:13957999-13958000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568106749	chr9:13958006-13958007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536450259	chr9:13958016-13958017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546786246	chr9:13958024-13958025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566866440	chr9:13958051-13958052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12344920	chr9:13958052-13958053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200269180	chr9:13958060-13958061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551912686	chr9:13958069-13958070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563374773	chr9:13958071-13958072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575571941	chr9:13958085-13958086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538206861	chr9:13958103-13958104	Weak transcription	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13933600-13961600	Weak transcription	Psoas Muscle	Psoas
2	chr9:13940400-13962000	Weak transcription	Left Ventricle	heart
3	chr9:13955000-13957600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:13955200-13957200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:13955800-13957400	Enhancers	Fetal Lung	lung
6	chr9:13956200-13957200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:13956200-13957600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:13956400-13957200	Enhancers	Brain Germinal Matrix	brain
9	chr9:13956400-13957400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:13956400-13957600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr9:13956400-13957800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr9:13956600-13957400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:13956600-13957600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr9:13956600-13957800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr9:13956600-13962200	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:13956800-13957400	Enhancers	Fetal Heart	heart
17	chr9:13956800-13957800	Enhancers	Fetal Muscle Leg	muscle
18	chr9:13957000-13957200	Active TSS	Adipose Nuclei	Adipose
19	chr9:13957000-13957400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr9:13957000-13957400	Active TSS	Aorta	Aorta
21	chr9:13957000-13957600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:13957000-13957600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr9:13957000-13957600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:13957200-13957400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:13957200-13957400	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr9:13957400-13957800	Weak transcription	Aorta	Aorta
27	chr9:13957400-13958600	Weak transcription	Fetal Lung	lung
28	chr9:13957400-13958800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:13957400-13960000	Weak transcription	Adipose Nuclei	Adipose
30	chr9:13957400-13960000	Weak transcription	Fetal Heart	heart
31	chr9:13957600-13957800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:13957600-13958800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:13957800-13958000	Enhancers	Aorta	Aorta
34	chr9:13957800-13958800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr9:13957800-13961400	Weak transcription	Fetal Muscle Leg	muscle
36	chr9:13958600-13960400	Enhancers	Fetal Lung	lung
37	chr9:13958800-13959600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:13958800-13963600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:13959000-13959200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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