Variant report

Variant	esv2755082
Chromosome Location	chr3:115896250-115902901
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	chr3:115890950..115893420-chr3:115897517..115899878,2	K562	blood:

Extended variants
information (count: 250 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:250 , 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	rs4582055	chr3:115896250-115896251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546942671	chr3:115896252-115896253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186693394	chr3:115896263-115896264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531498883	chr3:115896270-115896271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56138725	chr3:115896283-115896284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs558131655	chr3:115896324-115896325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569970737	chr3:115896335-115896336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370214120	chr3:115896367-115896368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537203812	chr3:115896484-115896485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375757362	chr3:115896497-115896498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148653530	chr3:115896548-115896549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573655532	chr3:115896555-115896556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540798942	chr3:115896595-115896596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141365071	chr3:115896618-115896619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191502149	chr3:115896620-115896621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147423418	chr3:115896651-115896652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62269193	chr3:115896711-115896712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531116978	chr3:115896716-115896717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531040985	chr3:115896721-115896722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368037519	chr3:115896820-115896821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542778425	chr3:115896821-115896822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561343857	chr3:115896837-115896838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12488904	chr3:115896878-115896879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546812227	chr3:115896897-115896898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201504529	chr3:115896942-115896943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369708941	chr3:115896943-115896944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145784099	chr3:115896944-115896945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59629948	chr3:115896948-115896949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142303964	chr3:115896953-115896954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs398062713	chr3:115896964-115896965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139483973	chr3:115896984-115896985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184600757	chr3:115897013-115897014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145009201	chr3:115897044-115897045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564463888	chr3:115897067-115897068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144218279	chr3:115897101-115897102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537367240	chr3:115897115-115897116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147176354	chr3:115897139-115897140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188299027	chr3:115897144-115897145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534708337	chr3:115897160-115897161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201003246	chr3:115897162-115897163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528944595	chr3:115897217-115897218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577668138	chr3:115897233-115897234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544561373	chr3:115897234-115897235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546645665	chr3:115897264-115897265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7615264	chr3:115897284-115897285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6768229	chr3:115897295-115897296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs113881829	chr3:115897306-115897307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528727298	chr3:115897310-115897311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375997834	chr3:115897372-115897373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185266924	chr3:115897375-115897376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115890000-115897800	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:115895800-115897600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:115896200-115896400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:115896200-115897800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:115896200-115898000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:115896200-115898000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:115896400-115897000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:115897400-115898600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:115897600-115898000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:115897600-115898800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:115897600-115898800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:115897800-115898200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:115897800-115898400	Enhancers	NHDF-Ad	bronchial
14	chr3:115897800-115898600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:115897800-115898600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:115897800-115898600	Enhancers	Colon Smooth Muscle	Colon
17	chr3:115898000-115898200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:115898000-115898200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr3:115898000-115898400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:115898000-115898800	Enhancers	Fetal Lung	lung
21	chr3:115898200-115898600	Enhancers	Fetal Stomach	stomach
22	chr3:115898600-115907000	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:115899800-115900600	Enhancers	Rectal Smooth Muscle	rectum

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