Variant report

Variant	nsv520932
Chromosome Location	chr3:134809377-134821399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:134814726..134816547-chr3:134832650..134834181,2	K562	blood:

Extended variants
information (count: 547 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2030737	chr3:134809377-134809378	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144019377	chr3:134809396-134809397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531583049	chr3:134809398-134809399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146376094	chr3:134809423-134809424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139356529	chr3:134809495-134809496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34274749	chr3:134809528-134809529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575427756	chr3:134809576-134809577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189660495	chr3:134809595-134809596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376177929	chr3:134809639-134809640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535377127	chr3:134809654-134809655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554642800	chr3:134809681-134809682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568487001	chr3:134809694-134809695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9289489	chr3:134809715-134809716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557382502	chr3:134809744-134809745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545226685	chr3:134809751-134809752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112593885	chr3:134809776-134809777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182341055	chr3:134809834-134809835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544776931	chr3:134809907-134809908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187755398	chr3:134809935-134809936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571992393	chr3:134809944-134809945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541364111	chr3:134810012-134810013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150068960	chr3:134810056-134810057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574335204	chr3:134810069-134810070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75914944	chr3:134810071-134810072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78391318	chr3:134810117-134810118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191810531	chr3:134810142-134810143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532262898	chr3:134810175-134810176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552790934	chr3:134810195-134810196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572711564	chr3:134810208-134810209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184090664	chr3:134810259-134810260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560014150	chr3:134810262-134810263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145398667	chr3:134810318-134810319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188239923	chr3:134810319-134810320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533280201	chr3:134810321-134810322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547041771	chr3:134810345-134810346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568666433	chr3:134810352-134810353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537405275	chr3:134810414-134810415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116078814	chr3:134810466-134810467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58259098	chr3:134810467-134810468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs149210890	chr3:134810505-134810506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539578953	chr3:134810540-134810541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369056264	chr3:134810547-134810548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142275598	chr3:134810632-134810633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193177234	chr3:134810681-134810682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16842578	chr3:134810693-134810694	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374387103	chr3:134810711-134810712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572269727	chr3:134810794-134810795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184085062	chr3:134810824-134810825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576398339	chr3:134810825-134810826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187315496	chr3:134810833-134810834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	21865298	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134802000-134816200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:134808800-134809600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:134809200-134855200	Weak transcription	GM12878-XiMat	blood
4	chr3:134810600-134811400	Enhancers	Fetal Brain Male	brain
5	chr3:134813400-134813600	Enhancers	Stomach Smooth Muscle	stomach
6	chr3:134813400-134813800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:134813800-134819400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:134813800-134822800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:134814800-134820600	Weak transcription	Fetal Brain Female	brain
10	chr3:134816200-134817000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:134817000-134824600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:134818400-134820200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:134818600-134818800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:134818600-134818800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:134818600-134819000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:134818600-134819200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:134818600-134819400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:134818600-134819800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr3:134818600-134819800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:134818800-134819400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:134818800-134819600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:134818800-134819800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:134818800-134822400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:134819000-134819400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:134819000-134822800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:134819200-134820000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr3:134819200-134822600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:134819400-134819800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:134819400-134820000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:134819400-134822600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:134819400-134822600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:134819600-134822800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr3:134819800-134822600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:134819800-134822600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:134819800-134822600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:134819800-134822800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr3:134820000-134822600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:134820000-134822600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr3:134820200-134822800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:134820600-134821000	Enhancers	Fetal Brain Female	brain
41	chr3:134821000-134828800	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links