Variant report

Variant	nsv1013687
Chromosome Location	chr3:60388277-60458608
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

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

No data

Extended variants
information (count: 2584 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2584 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185485326	chr3:60388290-60388291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189997661	chr3:60388295-60388296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7618479	chr3:60388322-60388323	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs143387462	chr3:60388338-60388339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570372771	chr3:60388340-60388341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537395653	chr3:60388347-60388348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555842934	chr3:60388410-60388411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574039631	chr3:60388421-60388422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148384931	chr3:60388445-60388446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553662690	chr3:60388460-60388461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141615641	chr3:60388473-60388474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76197777	chr3:60388517-60388518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147145063	chr3:60388528-60388529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531548995	chr3:60388587-60388588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138701436	chr3:60388588-60388589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548436856	chr3:60388632-60388633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140533261	chr3:60388633-60388634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142754913	chr3:60388682-60388683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6808129	chr3:60388727-60388728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2734361	chr3:60388743-60388744	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs116807934	chr3:60388748-60388749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533526151	chr3:60388764-60388765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552006995	chr3:60388837-60388838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139143174	chr3:60388875-60388876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs180910828	chr3:60388877-60388878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549381745	chr3:60388882-60388883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142097655	chr3:60388888-60388889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4021919	chr3:60388889-60388890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6783454	chr3:60388900-60388901	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs377362059	chr3:60388918-60388919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149940197	chr3:60389055-60389056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34484893	chr3:60389056-60389057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144120269	chr3:60389075-60389076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578039279	chr3:60389129-60389130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148696241	chr3:60389130-60389131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370413193	chr3:60389139-60389140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575917040	chr3:60389213-60389214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9865860	chr3:60389254-60389255	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185210248	chr3:60389291-60389292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2734363	chr3:60389306-60389307	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540679554	chr3:60389307-60389308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12637099	chr3:60389325-60389326	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs533106373	chr3:60389360-60389361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551994824	chr3:60389406-60389407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548718217	chr3:60389445-60389446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370371914	chr3:60389460-60389461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549622101	chr3:60389478-60389479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567336107	chr3:60389501-60389502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374153642	chr3:60389514-60389515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75044896	chr3:60389532-60389533	Weak transcription Enhancers	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:145 , 50 per page) page: 1 2 3

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	chr3:60385200-60388800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:60386200-60388600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:60386400-60389000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:60387200-60388600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:60387400-60388800	Weak transcription	Left Ventricle	heart
9	chr3:60387600-60389400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:60387800-60395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:60388000-60388400	Weak transcription	Brain Germinal Matrix	brain
12	chr3:60388000-60389400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:60388400-60389600	Enhancers	Brain Germinal Matrix	brain
14	chr3:60388600-60389200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:60388800-60389200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:60389000-60389800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:60389200-60389400	Enhancers	Left Ventricle	heart
18	chr3:60389200-60390800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:60389600-60390000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:60390800-60391400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:60391400-60395400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:60391600-60391800	Enhancers	Liver	Liver
23	chr3:60391800-60392200	Flanking Active TSS	Liver	Liver
24	chr3:60392200-60392400	Enhancers	Liver	Liver
25	chr3:60393800-60394000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr3:60394000-60394200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr3:60394000-60394200	Enhancers	Pancreas	Pancrea
28	chr3:60394000-60394800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr3:60394000-60397400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:60394200-60397400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr3:60394400-60395800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:60394600-60395200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr3:60394600-60397200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:60394800-60397400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:60394800-60397400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:60395000-60395400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:60395000-60395400	Enhancers	Fetal Lung	lung
38	chr3:60395000-60396600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr3:60395200-60396800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr3:60395400-60395600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:60395400-60397200	Weak transcription	Fetal Lung	lung
42	chr3:60395600-60396200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:60395800-60396000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:60395800-60396600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:60396000-60397000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr3:60396000-60397200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr3:60396200-60397400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:60396600-60397200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr3:60397200-60397400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr3:60397200-60397400	Enhancers	H9 Cell Line	embryonic stem cell

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