Variant report

Variant	nsv877305
Chromosome Location	chr3:105298379-105362282
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:105352013..105355360-chr3:105356310..105359089,4	K562	blood:
2	chr3:105352621..105354226-chr3:105357589..105360065,2	K562	blood:
3	chr3:105352621..105354226-chr3:105357589..105360065,2	K562	blood:
4	chr3:105328849..105330931-chr3:105332356..105334340,2	K562	blood:
5	chr3:105326304..105329167-chr3:105329885..105331831,2	K562	blood:
6	chr3:105326304..105329167-chr3:105329885..105331831,2	K562	blood:
7	chr3:105328849..105330931-chr3:105332356..105334340,2	K562	blood:
8	chr3:105352013..105355360-chr3:105356310..105359089,4	K562	blood:

No data

Extended variants
information (count: 1917 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1917 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13081408	chr3:105298379-105298380	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146730293	chr3:105298383-105298384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532218438	chr3:105298389-105298390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184480165	chr3:105298459-105298460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547534758	chr3:105298460-105298461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529693032	chr3:105298461-105298462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567219115	chr3:105298464-105298465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548241891	chr3:105298493-105298494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569570876	chr3:105298668-105298669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189450889	chr3:105298715-105298716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181245049	chr3:105298740-105298741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571801490	chr3:105298756-105298757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576433477	chr3:105298771-105298772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185604452	chr3:105298772-105298773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190408195	chr3:105298790-105298791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181694096	chr3:105298795-105298796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554923388	chr3:105298810-105298811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs57352621	chr3:105298826-105298827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187153567	chr3:105298827-105298828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139289901	chr3:105298841-105298842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76959479	chr3:105298861-105298862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144164588	chr3:105298900-105298901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375237946	chr3:105298935-105298936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535854203	chr3:105298962-105298963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559476789	chr3:105298987-105298988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116228496	chr3:105299001-105299002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567037805	chr3:105299098-105299099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192333784	chr3:105299189-105299190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563254538	chr3:105299201-105299202	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs151009681	chr3:105299215-105299216	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs530463117	chr3:105299223-105299224	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs550443612	chr3:105299256-105299257	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs140959772	chr3:105299261-105299262	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs182363376	chr3:105299264-105299265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs199942285	chr3:105299285-105299286	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs187959274	chr3:105299298-105299299	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs565956979	chr3:105299301-105299302	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs9854039	chr3:105299342-105299343	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190114365	chr3:105299351-105299352	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs369523529	chr3:105299406-105299407	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs182625776	chr3:105299428-105299429	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs150196194	chr3:105299459-105299460	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs558793789	chr3:105299467-105299468	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs577245201	chr3:105299551-105299552	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs57082329	chr3:105299555-105299556	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs6796463	chr3:105299556-105299557	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549775191	chr3:105299576-105299577	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs532735601	chr3:105299606-105299607	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs376654601	chr3:105299640-105299641	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs145682742	chr3:105299660-105299661	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Renal cell carcinoma	21668985	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
small cell lung cancer	20016488	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
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105221400-105300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:105260800-105299800	Weak transcription	Pancreas	Pancrea
3	chr3:105271600-105303000	Weak transcription	Aorta	Aorta
4	chr3:105272200-105312800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:105272400-105302800	Weak transcription	NHEK	skin
6	chr3:105273200-105303000	Weak transcription	HMEC	breast
7	chr3:105273400-105299800	Weak transcription	NHDF-Ad	bronchial
8	chr3:105274000-105303000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:105277200-105299200	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:105292000-105303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:105296200-105299200	Weak transcription	NH-A	brain
12	chr3:105296400-105299600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:105296600-105299000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:105296800-105299000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:105296800-105303200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:105297000-105303200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:105297800-105298400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:105297800-105300000	Enhancers	Osteobl	bone
19	chr3:105298000-105300000	Enhancers	HSMM	muscle
20	chr3:105298000-105300200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:105298400-105299200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:105299000-105299200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:105299000-105299400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:105299200-105299400	Enhancers	Brain Hippocampus Middle	brain
25	chr3:105299200-105299400	Enhancers	NH-A	brain
26	chr3:105299200-105299800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:105299200-105300000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:105299200-105300600	Enhancers	HSMMtube	muscle
29	chr3:105299600-105299800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:105299800-105300000	Enhancers	NHDF-Ad	bronchial
31	chr3:105299800-105300400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:105300000-105307800	Weak transcription	HSMM	muscle
33	chr3:105300600-105302800	Weak transcription	HSMMtube	muscle
34	chr3:105302600-105303400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:105302800-105303400	Enhancers	HSMMtube	muscle
36	chr3:105302800-105304000	Enhancers	NHEK	skin
37	chr3:105303000-105303600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:105303000-105303600	ZNF genes & repeats	Aorta	Aorta
39	chr3:105303000-105304200	Enhancers	HMEC	breast
40	chr3:105303200-105303400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:105303200-105303400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:105303200-105303600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:105303200-105303600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:105312000-105312800	Weak transcription	HSMM	muscle
45	chr3:105312200-105315000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:105312400-105314200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr3:105312400-105314200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:105312600-105313400	Enhancers	NH-A	brain
49	chr3:105312600-105313400	Enhancers	NHDF-Ad	bronchial
50	chr3:105312600-105313600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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