Variant report

Variant	nsv979837
Chromosome Location	chr3:61265785-61282897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:61125268..61126228-chr3:61279400..61279942,3	MCF-7	breast:
2	chr3:61235706..61237222-chr3:61273811..61275635,2	K562	blood:
3	chr3:61125383..61126228-chr3:61279414..61279942,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189283	chromatin interactions

Extended variants
information (count: 306 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370995992	chr3:61265834-61265835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373902602	chr3:61265860-61265861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34778977	chr3:61265867-61265868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376458522	chr3:61265911-61265912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145459728	chr3:61265921-61265922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145051152	chr3:61265942-61265943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565711101	chr3:61265983-61265984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189525652	chr3:61266078-61266079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544923807	chr3:61266119-61266120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563492223	chr3:61266135-61266136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530556129	chr3:61266140-61266141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539578767	chr3:61266146-61266147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs60575551	chr3:61266224-61266225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183268420	chr3:61266341-61266342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528043939	chr3:61266348-61266349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547282139	chr3:61266374-61266375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569794898	chr3:61266406-61266407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs41533744	chr3:61266407-61266408	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539314594	chr3:61266410-61266411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550932740	chr3:61266415-61266416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75659937	chr3:61266420-61266421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536769067	chr3:61266458-61266459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555555018	chr3:61266460-61266461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555069352	chr3:61266482-61266483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377508226	chr3:61266501-61266502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573287796	chr3:61266559-61266560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534140248	chr3:61266608-61266609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149116460	chr3:61266621-61266622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114911345	chr3:61266669-61266670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561703080	chr3:61266695-61266696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143222177	chr3:61266743-61266744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544748688	chr3:61266767-61266768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187145549	chr3:61266791-61266792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192062191	chr3:61266939-61266940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148292717	chr3:61267078-61267079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374814213	chr3:61267130-61267131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183336363	chr3:61267159-61267160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188398607	chr3:61267182-61267183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367599841	chr3:61267216-61267217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541299746	chr3:61267224-61267225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374506950	chr3:61267243-61267244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551231428	chr3:61267244-61267245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569492104	chr3:61267270-61267271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78497209	chr3:61267298-61267299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78191418	chr3:61267299-61267300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7613368	chr3:61267398-61267399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs745830	chr3:61267416-61267417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs192734235	chr3:61267438-61267439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34371746	chr3:61267447-61267448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs9683298	chr3:61267448-61267449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61261800-61269600	Weak transcription	Aorta	Aorta
2	chr3:61266000-61266400	Enhancers	Fetal Kidney	kidney
3	chr3:61266400-61267000	Enhancers	Fetal Intestine Large	intestine
4	chr3:61268200-61270400	Enhancers	Fetal Brain Male	brain
5	chr3:61269200-61269800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:61269400-61269600	Enhancers	Brain Cingulate Gyrus	brain
7	chr3:61269600-61269800	Enhancers	Aorta	Aorta
8	chr3:61273000-61274000	Enhancers	Brain Hippocampus Middle	brain
9	chr3:61273400-61273600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:61273400-61273800	Enhancers	Brain Anterior Caudate	brain
11	chr3:61273400-61274000	Enhancers	Brain Substantia Nigra	brain
12	chr3:61273400-61274200	Enhancers	Brain Angular Gyrus	brain
13	chr3:61273400-61274800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr3:61273600-61274200	Enhancers	Brain Cingulate Gyrus	brain
15	chr3:61273600-61275200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:61274000-61274800	Weak transcription	Brain Substantia Nigra	brain
17	chr3:61274200-61274600	Weak transcription	Brain Angular Gyrus	brain
18	chr3:61274200-61274800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:61274600-61275000	Enhancers	Brain Angular Gyrus	brain
20	chr3:61274800-61275000	Enhancers	Brain Cingulate Gyrus	brain
21	chr3:61274800-61275200	Enhancers	Brain Substantia Nigra	brain
22	chr3:61275200-61275400	Weak transcription	Brain Substantia Nigra	brain
23	chr3:61275400-61275800	Enhancers	Brain Substantia Nigra	brain
24	chr3:61281000-61281400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:61281000-61281400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr3:61281000-61281600	Enhancers	Fetal Stomach	stomach
27	chr3:61281000-61281800	Enhancers	Fetal Lung	lung
28	chr3:61281200-61281600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:61281200-61281600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:61281200-61281600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr3:61281200-61284200	Enhancers	Colon Smooth Muscle	Colon
32	chr3:61281400-61285000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:61281400-61285000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr3:61281600-61282800	Weak transcription	Fetal Stomach	stomach
35	chr3:61281600-61285000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr3:61281600-61285000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:61281600-61285600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:61281800-61283000	Weak transcription	Fetal Lung	lung
39	chr3:61282800-61288000	Enhancers	Fetal Stomach	stomach

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