Variant report

Variant	nsv591891
Chromosome Location	chr3:140909743-140911331
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:140641240..140642122-chr3:140910840..140911783,2	MCF-7	breast:
2	chr3:140911231..140911800-chr3:140998106..140998618,2	MCF-7	breast:
3	chr3:140768713..140769273-chr3:140910536..140911423,2	MCF-7	breast:
4	chr20:9524757..9525257-chr3:140910988..140911568,2	MCF-7	breast:
5	chr3:140910870..140911682-chr3:140950195..140951399,3	MCF-7	breast:
6	chr3:140582774..140583595-chr3:140910775..140911453,2	K562	blood:
7	chr3:140910735..140911727-chr3:141170663..141171495,2	K562	blood:
8	chr3:140616851..140618321-chr3:140910804..140911746,7	K562	blood:
9	chr3:140911179..140911719-chr3:141280024..141280597,2	K562	blood:
10	chr10:71561918..71562439-chr3:140910836..140911391,2	K562	blood:
11	chr3:140730037..140730966-chr3:140911200..140912285,7	MCF-7	breast:
12	chr20:46012466..46013414-chr3:140910734..140911750,3	MCF-7	breast:
13	chr3:140910927..140911916-chr3:140974455..140975357,4	MCF-7	breast:
14	chr3:140769329..140770294-chr3:140910775..140911651,5	MCF-7	breast:
15	chr3:140718217..140720012-chr3:140910812..140911779,16	MCF-7	breast:
16	chr3:140910860..140911731-chr3:140997895..140998782,2	K562	blood:
17	chr3:140641214..140642093-chr3:140910815..140911387,4	K562	blood:
18	chr2:205663276..205663797-chr3:140910816..140911375,4	K562	blood:
19	chr3:140717895..140719577-chr3:140910528..140912066,26	MCF-7	breast:
20	chr3:140616900..140617838-chr3:140910864..140911977,9	MCF-7	breast:
21	chr3:140730037..140731014-chr3:140910554..140911830,26	MCF-7	breast:
22	chr3:140867484..140869090-chr3:140909634..140911456,2	K562	blood:
23	chr3:140718651..140719525-chr3:140910863..140911815,6	K562	blood:
24	chr3:140824451..140825371-chr3:140910899..140911704,4	MCF-7	breast:
25	chr3:139847183..139848098-chr3:140910839..140911734,2	K562	blood:
26	chr3:140730111..140731019-chr3:140910769..140911416,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000155893	chromatin interactions
ENSG00000197467	chromatin interactions
ENSG00000175093	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9289622	chr3:140909781-140909782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113859827	chr3:140909807-140909808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9289623	chr3:140909831-140909832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537948479	chr3:140909869-140909870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556572259	chr3:140909972-140909973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574843336	chr3:140910004-140910005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535811193	chr3:140910012-140910013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554230040	chr3:140910056-140910057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9864596	chr3:140910066-140910067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142683680	chr3:140910088-140910089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115944318	chr3:140910089-140910090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564512681	chr3:140910094-140910095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202070949	chr3:140910138-140910139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534818988	chr3:140910178-140910179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201196885	chr3:140910187-140910188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149303285	chr3:140910188-140910189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576625017	chr3:140910202-140910203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367840642	chr3:140910226-140910227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372027507	chr3:140910227-140910228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112961605	chr3:140910231-140910232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373744434	chr3:140910232-140910233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199675484	chr3:140910235-140910236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60345942	chr3:140910260-140910261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562563748	chr3:140910335-140910336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529755240	chr3:140910337-140910338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs16851121	chr3:140910355-140910356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs56966360	chr3:140910389-140910390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554640886	chr3:140910397-140910398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527566792	chr3:140910502-140910503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16851123	chr3:140910504-140910505	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs533965424	chr3:140910594-140910595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570656601	chr3:140910671-140910672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538003097	chr3:140910776-140910777	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549722823	chr3:140910789-140910790	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568536052	chr3:140910793-140910794	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs76387229	chr3:140910824-140910825	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116290499	chr3:140910827-140910828	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572512590	chr3:140910850-140910851	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs544171643	chr3:140910858-140910859	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs558384925	chr3:140910875-140910876	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs576673678	chr3:140910878-140910879	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs543961716	chr3:140910889-140910890	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs9990218	chr3:140910894-140910895	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs574176802	chr3:140910956-140910957	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs368129277	chr3:140910971-140910972	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs541560520	chr3:140910984-140910985	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs116807018	chr3:140911037-140911038	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs527238035	chr3:140911101-140911102	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs541318261	chr3:140911118-140911119	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs545489803	chr3:140911162-140911163	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
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
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Schizophrenia	17989066	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140905800-140911400	Weak transcription	Thymus	Thymus
2	chr3:140910400-140911000	Enhancers	Osteobl	bone
3	chr3:140910400-140911200	Enhancers	HMEC	breast
4	chr3:140910400-140911600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:140910600-140910800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:140910600-140911000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:140910600-140911200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr3:140910600-140911200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:140910600-140912400	Enhancers	Dnd41	blood
10	chr3:140910800-140911000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:140910800-140911000	Enhancers	Fetal Muscle Leg	muscle
12	chr3:140910800-140911600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr3:140911000-140911200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr3:140911000-140911400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr3:140911000-140911600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr3:140911000-140911600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr3:140911000-140911600	Enhancers	Duodenum Mucosa	Duodenum
18	chr3:140911000-140911600	Enhancers	Fetal Kidney	kidney
19	chr3:140911000-140911600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:140911000-140911600	Enhancers	Hela-S3	cervix
21	chr3:140911000-140911800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr3:140911000-140911800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr3:140911000-140912000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr3:140911000-140912200	Enhancers	Fetal Thymus	thymus
25	chr3:140911200-140911600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:140911200-140911600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood

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