Variant report

Variant	nsv524529
Chromosome Location	chr3:120573295-120578717
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	chr3:120578478..120580456-chr3:120587520..120589951,2	K562	blood:
2	chr3:120577947..120579807-chr3:120583739..120586001,2	K562	blood:

Extended variants
information (count: 168 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs408378	chr3:120573295-120573296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565160159	chr3:120573328-120573329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186333233	chr3:120573391-120573392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192046163	chr3:120573446-120573447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560740919	chr3:120573455-120573456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183475124	chr3:120573468-120573469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7426820	chr3:120573514-120573515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188477289	chr3:120573538-120573539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6777455	chr3:120573562-120573563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192588530	chr3:120573616-120573617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34264188	chr3:120573644-120573645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183267889	chr3:120573677-120573678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114183939	chr3:120573749-120573750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186931941	chr3:120573794-120573795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375738867	chr3:120573813-120573814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538545118	chr3:120573844-120573845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555341011	chr3:120573944-120573945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575082703	chr3:120573954-120573955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377343549	chr3:120573991-120573992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76100580	chr3:120574058-120574059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191347775	chr3:120574062-120574063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185037093	chr3:120574075-120574076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558140245	chr3:120574099-120574100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115095339	chr3:120574121-120574122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151248246	chr3:120574122-120574123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2171167	chr3:120574135-120574136	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529885636	chr3:120574151-120574152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540073287	chr3:120574162-120574163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74737560	chr3:120574208-120574209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532501133	chr3:120574216-120574217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139232144	chr3:120574240-120574241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189548272	chr3:120574252-120574253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371915922	chr3:120574294-120574295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192839659	chr3:120574305-120574306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548876971	chr3:120574310-120574311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567370570	chr3:120574314-120574315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568803499	chr3:120574338-120574339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534374819	chr3:120574349-120574350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185242726	chr3:120574387-120574388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566522934	chr3:120574402-120574403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538347585	chr3:120574404-120574405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558279232	chr3:120574406-120574407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188838964	chr3:120574413-120574414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559939554	chr3:120574429-120574430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529010416	chr3:120574461-120574462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114614423	chr3:120574478-120574479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149756158	chr3:120574479-120574480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548261103	chr3:120574492-120574493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556415633	chr3:120574517-120574518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377032815	chr3:120574567-120574568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	22522925	CNVD
Autism	22241247	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120565000-120574600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:120565200-120573800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:120565600-120573800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:120570200-120573800	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:120570400-120574000	Weak transcription	Osteobl	bone
6	chr3:120573600-120573800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:120573600-120575600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:120573800-120574000	Enhancers	Brain Hippocampus Middle	brain
9	chr3:120573800-120574200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:120573800-120574800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr3:120573800-120575000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:120573800-120575200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:120574000-120574600	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:120574000-120574600	Enhancers	NH-A	brain
15	chr3:120574000-120574800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr3:120574000-120575200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:120574000-120575600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:120574000-120575600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr3:120574000-120575600	Enhancers	Osteobl	bone
20	chr3:120574000-120575800	Enhancers	Ovary	ovary
21	chr3:120574200-120574400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:120574200-120575200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:120574400-120575000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:120574400-120576400	Enhancers	Hela-S3	cervix
25	chr3:120574600-120574800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:120574600-120575000	Enhancers	Brain Hippocampus Middle	brain
27	chr3:120574600-120575000	Flanking Active TSS	HSMMtube	muscle
28	chr3:120574600-120575200	Enhancers	Fetal Stomach	stomach
29	chr3:120574600-120575200	Enhancers	Right Atrium	heart
30	chr3:120574600-120575600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:120574600-120575600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:120574800-120575600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:120575000-120575200	Weak transcription	Brain Hippocampus Middle	brain
34	chr3:120575000-120575400	Enhancers	Colon Smooth Muscle	Colon
35	chr3:120575000-120575600	Enhancers	Aorta	Aorta
36	chr3:120575000-120575600	Enhancers	HSMMtube	muscle
37	chr3:120575200-120575600	Enhancers	Brain Hippocampus Middle	brain
38	chr3:120576400-120576800	Weak transcription	Hela-S3	cervix
39	chr3:120576800-120578000	Enhancers	Hela-S3	cervix
40	chr3:120577400-120577800	Bivalent Enhancer	A549	lung

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