Variant report

Variant	nsv998863
Chromosome Location	chr3:60386782-60406798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:60404994..60406496-chr3:60413046..60414548,2	K562	blood:
2	chr3:60260056..60262708-chr3:60388625..60391399,2	K562	blood:
3	chr3:60382449..60384034-chr3:60387364..60390049,2	K562	blood:

Extended variants
information (count: 797 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:797 , 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	rs17062981	chr3:60386782-60386783	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115871514	chr3:60386798-60386799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531890161	chr3:60386818-60386819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550787072	chr3:60386823-60386824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2611417	chr3:60386865-60386866	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529996142	chr3:60386891-60386892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375250685	chr3:60386916-60386917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367899567	chr3:60386918-60386919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2687151	chr3:60386941-60386942	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374719013	chr3:60386971-60386972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142690516	chr3:60386975-60386976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75183596	chr3:60387004-60387005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570208453	chr3:60387011-60387012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537588370	chr3:60387015-60387016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151020848	chr3:60387039-60387040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11921834	chr3:60387108-60387109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536066332	chr3:60387141-60387142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367860479	chr3:60387166-60387167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547016597	chr3:60387193-60387194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77509506	chr3:60387195-60387196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184810237	chr3:60387199-60387200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186991350	chr3:60387246-60387247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564515287	chr3:60387272-60387273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140927537	chr3:60387276-60387277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543963012	chr3:60387294-60387295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562185536	chr3:60387304-60387305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573013166	chr3:60387346-60387347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191503970	chr3:60387349-60387350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548373493	chr3:60387368-60387369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143619217	chr3:60387477-60387478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560140724	chr3:60387485-60387486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146807934	chr3:60387487-60387488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535678739	chr3:60387498-60387499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183652805	chr3:60387499-60387500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140618460	chr3:60387523-60387524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570146510	chr3:60387535-60387536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537523362	chr3:60387556-60387557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34095596	chr3:60387562-60387563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188218011	chr3:60387577-60387578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567827694	chr3:60387585-60387586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9828649	chr3:60387589-60387590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10428261	chr3:60387613-60387614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555391189	chr3:60387652-60387653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566236317	chr3:60387671-60387672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540161389	chr3:60387679-60387680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569426279	chr3:60387680-60387681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145752317	chr3:60387687-60387688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34744520	chr3:60387693-60387694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576477953	chr3:60387716-60387717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536719496	chr3:60387724-60387725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Cancer	18162546	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
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60384000-60388800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:60385000-60389600	Enhancers	Fetal Heart	heart
3	chr3:60385000-60399800	Weak transcription	K562	blood
4	chr3:60385200-60387400	Enhancers	Psoas Muscle	Psoas
5	chr3:60385200-60387400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr3:60385200-60388800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:60385800-60387800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:60386000-60388200	Enhancers	Duodenum Mucosa	Duodenum
9	chr3:60386200-60388600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:60386400-60387000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:60386400-60389000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:60386600-60387400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:60386800-60387200	Weak transcription	Left Ventricle	heart
14	chr3:60387000-60387200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:60387000-60387800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:60387200-60387400	Enhancers	Left Ventricle	heart
17	chr3:60387200-60388600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:60387400-60387600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:60387400-60388800	Weak transcription	Left Ventricle	heart
20	chr3:60387600-60388000	Enhancers	Brain Germinal Matrix	brain
21	chr3:60387600-60389400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr3:60387800-60395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:60388000-60388400	Weak transcription	Brain Germinal Matrix	brain
24	chr3:60388000-60389400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:60388400-60389600	Enhancers	Brain Germinal Matrix	brain
26	chr3:60388600-60389200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr3:60388800-60389200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:60389000-60389800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:60389200-60389400	Enhancers	Left Ventricle	heart
30	chr3:60389200-60390800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:60389600-60390000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:60390800-60391400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:60391400-60395400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:60391600-60391800	Enhancers	Liver	Liver
35	chr3:60391800-60392200	Flanking Active TSS	Liver	Liver
36	chr3:60392200-60392400	Enhancers	Liver	Liver
37	chr3:60393800-60394000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:60394000-60394200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr3:60394000-60394200	Enhancers	Pancreas	Pancrea
40	chr3:60394000-60394800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr3:60394000-60397400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr3:60394200-60397400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr3:60394400-60395800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr3:60394600-60395200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr3:60394600-60397200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr3:60394800-60397400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr3:60394800-60397400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr3:60395000-60395400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:60395000-60395400	Enhancers	Fetal Lung	lung
50	chr3:60395000-60396600	Enhancers	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links