Variant report

Variant	esv3464319
Chromosome Location	chr3:143141030-143142645
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	chr3:143142091..143144057-chr3:143161470..143163201,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552726755	chr3:143141043-143141044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144489478	chr3:143141064-143141065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148440947	chr3:143141068-143141069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142563639	chr3:143141082-143141083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565971134	chr3:143141151-143141152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543443876	chr3:143141152-143141153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147606342	chr3:143141201-143141202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529385439	chr3:143141258-143141259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547935927	chr3:143141261-143141262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115078780	chr3:143141281-143141282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540503431	chr3:143141296-143141297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140529779	chr3:143141325-143141326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77521472	chr3:143141357-143141358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144494193	chr3:143141430-143141431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72992201	chr3:143141447-143141448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548552270	chr3:143141486-143141487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566949831	chr3:143141529-143141530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78059675	chr3:143141531-143141532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35515985	chr3:143141564-143141565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374865591	chr3:143141580-143141581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147859436	chr3:143141584-143141585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577376383	chr3:143141631-143141632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538458524	chr3:143141641-143141642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140442881	chr3:143141660-143141661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575433973	chr3:143141693-143141694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542936545	chr3:143141705-143141706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555771384	chr3:143141742-143141743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574099959	chr3:143141752-143141753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185008211	chr3:143141768-143141769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559891583	chr3:143141785-143141786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533517849	chr3:143141786-143141787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577133836	chr3:143141854-143141855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72993804	chr3:143141861-143141862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563939091	chr3:143141867-143141868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190256157	chr3:143141892-143141893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76389058	chr3:143141907-143141908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544573730	chr3:143141908-143141909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563139210	chr3:143141961-143141962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182545715	chr3:143141989-143141990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546242913	chr3:143141994-143141995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571245407	chr3:143142006-143142007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9835113	chr3:143142047-143142048	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs74850749	chr3:143142050-143142051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569056433	chr3:143142052-143142053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6777206	chr3:143142055-143142056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548752283	chr3:143142059-143142060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552623559	chr3:143142061-143142062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556744523	chr3:143142063-143142064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554914387	chr3:143142072-143142073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574038657	chr3:143142084-143142085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
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
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143100600-143142600	Weak transcription	Primary T cells from cord blood	blood
2	chr3:143133200-143142800	Weak transcription	Primary B cells from cord blood	blood
3	chr3:143137600-143142000	Weak transcription	Dnd41	blood
4	chr3:143139000-143145600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:143140000-143150000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:143140800-143142000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:143140800-143142600	Weak transcription	Fetal Thymus	thymus
8	chr3:143142000-143150200	Enhancers	Dnd41	blood
9	chr3:143142200-143143200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr3:143142200-143143200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr3:143142600-143142800	Enhancers	Fetal Thymus	thymus
12	chr3:143142600-143143200	Enhancers	Primary T cells from cord blood	blood
13	chr3:143142600-143143200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr3:143142600-143143600	Enhancers	Primary B cells from peripheral blood	blood
15	chr3:143142600-143144000	Enhancers	GM12878-XiMat	blood

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