Variant report

Variant	nsv590398
Chromosome Location	chr3:60385765-60458976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:60260056..60262708-chr3:60388625..60391399,2	K562	blood:
2	chr3:60187999..60188742-chr3:60417102..60417817,2	MCF-7	breast:
3	chr3:60404994..60406496-chr3:60413046..60414548,2	K562	blood:
4	chr3:60418409..60420748-chr3:60421749..60423425,2	MCF-7	breast:
5	chr3:60418409..60420748-chr3:60421749..60423425,2	MCF-7	breast:
6	chr3:60435518..60437406-chr3:60439396..60441037,2	K562	blood:
7	chr3:60335312..60337513-chr3:60384353..60386284,2	K562	blood:
8	chr3:60382449..60384034-chr3:60387364..60390049,2	K562	blood:
9	chr3:60404994..60406496-chr3:60413046..60414548,2	K562	blood:
10	chr3:60435518..60437406-chr3:60439396..60441037,2	K562	blood:

No data

Extended variants
information (count: 2698 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2698 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2687152	chr3:60385765-60385766	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150706159	chr3:60385768-60385769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572886171	chr3:60385814-60385815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113109291	chr3:60385931-60385932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554288295	chr3:60385977-60385978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191852269	chr3:60386004-60386005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544417262	chr3:60386019-60386020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575707847	chr3:60386034-60386035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs242213	chr3:60386046-60386047	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541816402	chr3:60386047-60386048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370255136	chr3:60386099-60386100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139030546	chr3:60386158-60386159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527767471	chr3:60386196-60386197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552416255	chr3:60386281-60386282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115049196	chr3:60386289-60386290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532308939	chr3:60386298-60386299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574735250	chr3:60386315-60386316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542408701	chr3:60386341-60386342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554197604	chr3:60386395-60386396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147161438	chr3:60386491-60386492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140426898	chr3:60386507-60386508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183999981	chr3:60386516-60386517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144376056	chr3:60386555-60386556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147827155	chr3:60386557-60386558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553118975	chr3:60386576-60386577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558334771	chr3:60386603-60386604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115623729	chr3:60386612-60386613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188559829	chr3:60386618-60386619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148469758	chr3:60386648-60386649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193087927	chr3:60386690-60386691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115445306	chr3:60386711-60386712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545894587	chr3:60386762-60386763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564447000	chr3:60386766-60386767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17062981	chr3:60386782-60386783	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115871514	chr3:60386798-60386799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531890161	chr3:60386818-60386819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550787072	chr3:60386823-60386824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2611417	chr3:60386865-60386866	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529996142	chr3:60386891-60386892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375250685	chr3:60386916-60386917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367899567	chr3:60386918-60386919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2687151	chr3:60386941-60386942	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs374719013	chr3:60386971-60386972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142690516	chr3:60386975-60386976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75183596	chr3:60387004-60387005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570208453	chr3:60387011-60387012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537588370	chr3:60387015-60387016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151020848	chr3:60387039-60387040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11921834	chr3:60387108-60387109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536066332	chr3:60387141-60387142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Burkitt''s lymphoma	19759907	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60382000-60386200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:60384000-60388800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:60385000-60386200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:60385000-60389600	Enhancers	Fetal Heart	heart
5	chr3:60385000-60399800	Weak transcription	K562	blood
6	chr3:60385200-60386400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:60385200-60387400	Enhancers	Psoas Muscle	Psoas
8	chr3:60385200-60387400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr3:60385200-60388800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:60385400-60386000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:60385400-60386600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr3:60385600-60386400	Enhancers	Aorta	Aorta
13	chr3:60385600-60386600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr3:60385800-60386400	Enhancers	Right Ventricle	heart
15	chr3:60385800-60386600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:60385800-60387800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:60386000-60388200	Enhancers	Duodenum Mucosa	Duodenum
18	chr3:60386200-60386400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:60386200-60386400	Enhancers	Left Ventricle	heart
20	chr3:60386200-60388600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:60386400-60387000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:60386400-60389000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:60386600-60387400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:60386800-60387200	Weak transcription	Left Ventricle	heart
25	chr3:60387000-60387200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr3:60387000-60387800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:60387200-60387400	Enhancers	Left Ventricle	heart
28	chr3:60387200-60388600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr3:60387400-60387600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:60387400-60388800	Weak transcription	Left Ventricle	heart
31	chr3:60387600-60388000	Enhancers	Brain Germinal Matrix	brain
32	chr3:60387600-60389400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr3:60387800-60395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:60388000-60388400	Weak transcription	Brain Germinal Matrix	brain
35	chr3:60388000-60389400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:60388400-60389600	Enhancers	Brain Germinal Matrix	brain
37	chr3:60388600-60389200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr3:60388800-60389200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:60389000-60389800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:60389200-60389400	Enhancers	Left Ventricle	heart
41	chr3:60389200-60390800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:60389600-60390000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:60390800-60391400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:60391400-60395400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:60391600-60391800	Enhancers	Liver	Liver
46	chr3:60391800-60392200	Flanking Active TSS	Liver	Liver
47	chr3:60392200-60392400	Enhancers	Liver	Liver
48	chr3:60393800-60394000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr3:60394000-60394200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr3:60394000-60394200	Enhancers	Pancreas	Pancrea

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