Variant report

Variant	nsv522974
Chromosome Location	chr3:112832063-112836389
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	chr3:112831326..112834195-chr3:112837438..112839554,2	K562	blood:

Extended variants
information (count: 208 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1795174	chr3:112832063-112832064	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569372360	chr3:112832082-112832083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188213618	chr3:112832086-112832087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555285745	chr3:112832118-112832119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573605128	chr3:112832144-112832145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534595169	chr3:112832168-112832169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2700209	chr3:112832234-112832235	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1632500	chr3:112832274-112832275	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145463979	chr3:112832303-112832304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180698670	chr3:112832341-112832342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1797619	chr3:112832409-112832410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1795173	chr3:112832434-112832435	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs184715036	chr3:112832452-112832453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560847277	chr3:112832480-112832481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562185459	chr3:112832485-112832486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111477558	chr3:112832627-112832628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373270173	chr3:112832628-112832629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72105794	chr3:112832629-112832630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60072499	chr3:112832652-112832653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61011112	chr3:112832716-112832717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567102289	chr3:112832718-112832719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537684781	chr3:112832729-112832730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74857756	chr3:112832738-112832739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57377597	chr3:112832739-112832740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57239558	chr3:112832747-112832748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550810091	chr3:112832769-112832770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60242702	chr3:112832770-112832771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569367615	chr3:112832791-112832792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536422461	chr3:112832796-112832797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530881717	chr3:112832817-112832818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189500410	chr3:112832819-112832820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34665820	chr3:112832827-112832828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534504685	chr3:112832845-112832846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552956396	chr3:112832849-112832850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9837076	chr3:112832851-112832852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs146502525	chr3:112832866-112832867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556761709	chr3:112832881-112832882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538588097	chr3:112832887-112832888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60283613	chr3:112832889-112832890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs542404201	chr3:112832890-112832891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560758508	chr3:112832913-112832914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572756652	chr3:112832957-112832958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181841439	chr3:112832970-112832971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187100798	chr3:112832975-112832976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141138693	chr3:112833018-112833019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111852655	chr3:112833023-112833024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532386127	chr3:112833024-112833025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144581281	chr3:112833026-112833027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562836642	chr3:112833078-112833079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540547283	chr3:112833099-112833100	Weak transcription	n/a	n/a	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
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112808800-112832400	Weak transcription	Primary T cells from cord blood	blood
2	chr3:112826000-112832200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:112828200-112836200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:112830000-112835200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:112830200-112835800	Weak transcription	Fetal Stomach	stomach
6	chr3:112830800-112836200	Weak transcription	NHEK	skin
7	chr3:112831200-112836000	Weak transcription	Hela-S3	cervix
8	chr3:112832000-112832600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:112832000-112832600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:112832200-112832600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:112833200-112833400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr3:112833400-112836200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:112835200-112836000	Enhancers	Fetal Muscle Trunk	muscle
14	chr3:112835800-112840600	Enhancers	Fetal Stomach	stomach
15	chr3:112836000-112837200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:112836000-112837200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:112836000-112837200	Enhancers	Osteobl	bone
18	chr3:112836000-112837600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:112836000-112837600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:112836000-112837600	Enhancers	Hela-S3	cervix
21	chr3:112836000-112837800	Enhancers	Colon Smooth Muscle	Colon
22	chr3:112836200-112836400	Flanking Active TSS	NH-A	brain
23	chr3:112836200-112836600	Enhancers	Fetal Heart	heart
24	chr3:112836200-112836800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:112836200-112836800	Enhancers	NHDF-Ad	bronchial
26	chr3:112836200-112836800	Enhancers	NHEK	skin
27	chr3:112836200-112836800	Enhancers	NHLF	lung
28	chr3:112836200-112837000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:112836200-112837000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:112836200-112837000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:112836200-112837000	Enhancers	HSMM	muscle
32	chr3:112836200-112837200	Enhancers	Stomach Smooth Muscle	stomach
33	chr3:112836200-112837400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:112836200-112837600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:112836200-112837600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr3:112836200-112837600	Enhancers	Adipose Nuclei	Adipose
37	chr3:112836200-112837600	Enhancers	Fetal Muscle Leg	muscle
38	chr3:112836200-112837600	Enhancers	Rectal Smooth Muscle	rectum

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