Variant report

Variant	nsv526057
Chromosome Location	chr3:110271283-110283716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr3:110279516-110279782	K562	blood:	n/a	n/a
2	FOS	chr3:110281676-110281696	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr3:110281585-110281614	MCF10A-Er-Src	breast:	n/a	n/a
4	FOSL2	chr3:110281371-110281853	A549	lung:	n/a	n/a
5	MAFF	chr3:110283506-110283866	K562	blood:	n/a	chr3:110283685-110283703 chr3:110283684-110283698
6	MAFF	chr3:110283513-110283872	HepG2	liver:	n/a	chr3:110283685-110283703 chr3:110283684-110283698
7	MAFK	chr3:110283478-110283876	IMR90	lung:	n/a	chr3:110283686-110283702 chr3:110283686-110283701 chr3:110283681-110283701 chr3:110283691-110283702 chr3:110283683-110283699 chr3:110283691-110283702
8	MAFK	chr3:110281577-110281763	IMR90	lung:	n/a	n/a
9	MAFK	chr3:110283508-110283873	HepG2	liver:	n/a	chr3:110283686-110283702 chr3:110283686-110283701 chr3:110283681-110283701 chr3:110283691-110283702 chr3:110283683-110283699 chr3:110283691-110283702
10	MAFK	chr3:110283546-110283994	Hela-S3	cervix:	n/a	chr3:110283686-110283702 chr3:110283686-110283701 chr3:110283681-110283701 chr3:110283691-110283702 chr3:110283683-110283699 chr3:110283691-110283702
11	MAFK	chr3:110283524-110283860	HepG2	liver:	n/a	chr3:110283686-110283702 chr3:110283686-110283701 chr3:110283681-110283701 chr3:110283691-110283702 chr3:110283683-110283699 chr3:110283691-110283702
12	MAFK	chr3:110283517-110283840	K562	blood:	n/a	chr3:110283686-110283702 chr3:110283686-110283701 chr3:110283681-110283701 chr3:110283691-110283702 chr3:110283683-110283699 chr3:110283691-110283702
13	MYC	chr3:110278414-110278456	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr3:110274212-110274231	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr3:110279328-110279335	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr3:110281363-110281405	Gliobla	brain:	n/a	n/a
17	POLR2A	chr3:110271511-110271731	K562	blood:	n/a	n/a
18	STAT3	chr3:110276980-110277180	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:110282414..110285256-chr3:110286686..110288676,2	K562	blood:
2	chr3:110240671..110243637-chr3:110277371..110279265,2	K562	blood:
3	chr3:110276449..110278320-chr3:110281402..110283554,3	K562	blood:
4	chr3:110279243..110282023-chr3:110283429..110285882,2	K562	blood:
5	chr3:110276449..110278320-chr3:110281402..110283554,3	K562	blood:
6	chr3:110232519..110235271-chr3:110279973..110282638,2	K562	blood:
7	chr3:110279243..110282023-chr3:110283429..110285882,2	K562	blood:
8	chr3:110269319..110271663-chr3:110272777..110274394,2	K562	blood:

Variant related genes	Relation type
RNU6ATAC15P	TF binding region
ENSG00000221206	chromatin interactions

Extended variants
information (count: 452 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2055966	chr3:110271283-110271284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145939393	chr3:110271383-110271384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537407612	chr3:110271454-110271455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180785038	chr3:110271484-110271485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139993442	chr3:110271494-110271495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539769029	chr3:110271511-110271512	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs544347780	chr3:110271635-110271636	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs553276765	chr3:110271642-110271643	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs11918532	chr3:110271671-110271672	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186147852	chr3:110271714-110271715	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs561818353	chr3:110271777-110271778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551771495	chr3:110271785-110271786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377014928	chr3:110271808-110271809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149324616	chr3:110271891-110271892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375469619	chr3:110271910-110271911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1398346	chr3:110271943-110271944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1512516	chr3:110271975-110271976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs9815868	chr3:110271991-110271992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35965282	chr3:110272082-110272083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560229471	chr3:110272087-110272088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564039671	chr3:110272100-110272101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367873227	chr3:110272115-110272116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144585617	chr3:110272350-110272351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4682182	chr3:110272365-110272366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190275800	chr3:110272401-110272402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570488651	chr3:110272426-110272427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539481022	chr3:110272435-110272436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148459521	chr3:110272460-110272461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181891171	chr3:110272489-110272490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2399335	chr3:110272492-110272493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs555692322	chr3:110272504-110272505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575262993	chr3:110272534-110272535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367680644	chr3:110272558-110272559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185711085	chr3:110272577-110272578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112338133	chr3:110272607-110272608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7634524	chr3:110272624-110272625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190468465	chr3:110272632-110272633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553321256	chr3:110272635-110272636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572019300	chr3:110272652-110272653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115675973	chr3:110272708-110272709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142608400	chr3:110272710-110272711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183060823	chr3:110272715-110272716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186275697	chr3:110272722-110272723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561085216	chr3:110272740-110272741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191548547	chr3:110272809-110272810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570651321	chr3:110272830-110272831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147700258	chr3:110272839-110272840	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182409469	chr3:110272869-110272870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs373004607	chr3:110272877-110272878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532970183	chr3:110272898-110272899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Hirschsprung''s Disease	21712996	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
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
Neurodevelopmental disorder	22521361	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110270000-110286800	Weak transcription	K562	blood
2	chr3:110280800-110282200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:110281200-110283400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:110281400-110281800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:110281400-110281800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:110281400-110281800	Enhancers	Adipose Nuclei	Adipose
7	chr3:110281400-110281800	Enhancers	Osteobl	bone
8	chr3:110281400-110282200	Enhancers	A549	lung
9	chr3:110281600-110281800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:110281600-110281800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr3:110281800-110286600	Weak transcription	Osteobl	bone
12	chr3:110281800-110286800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:110281800-110286800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:110282200-110285200	Weak transcription	A549	lung
15	chr3:110282200-110286000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:110283400-110283800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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