Variant report

Variant	esv3462242
Chromosome Location	chr3:100669149-100670940
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	chr3:100667011..100669832-chr3:100673806..100676127,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72930271	chr3:100669154-100669155	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567585358	chr3:100669342-100669343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199901173	chr3:100669375-100669376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183445326	chr3:100669376-100669377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532287444	chr3:100669440-100669441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547284683	chr3:100669470-100669471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556475532	chr3:100669559-100669560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145603007	chr3:100669563-100669564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538827734	chr3:100669569-100669570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62273935	chr3:100669576-100669577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138198857	chr3:100669587-100669588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543022174	chr3:100669682-100669683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375207162	chr3:100669697-100669698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142791899	chr3:100669747-100669748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144270767	chr3:100669751-100669752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386663902	chr3:100669851-100669852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565225768	chr3:100669874-100669875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532611882	chr3:100669878-100669879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148747397	chr3:100669925-100669926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560204661	chr3:100669926-100669927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141498460	chr3:100669931-100669932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35760330	chr3:100669956-100669957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188256093	chr3:100670039-100670040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2164630	chr3:100670061-100670062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548987712	chr3:100670127-100670128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567300553	chr3:100670133-100670134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531318648	chr3:100670147-100670148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550140694	chr3:100670168-100670169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535964739	chr3:100670226-100670227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191854158	chr3:100670254-100670255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553650507	chr3:100670280-100670281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534516779	chr3:100670281-100670282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2713752	chr3:100670336-100670337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs183574394	chr3:100670353-100670354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554625536	chr3:100670362-100670363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547915969	chr3:100670401-100670402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576065280	chr3:100670409-100670410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543407561	chr3:100670425-100670426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569299687	chr3:100670444-100670445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188261006	chr3:100670446-100670447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7647640	chr3:100670462-100670463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541629525	chr3:100670489-100670490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567671522	chr3:100670506-100670507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559667003	chr3:100670524-100670525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185537754	chr3:100670527-100670528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2713750	chr3:100670539-100670540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs560956720	chr3:100670540-100670541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531382324	chr3:100670577-100670578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549751629	chr3:100670610-100670611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7613669	chr3:100670633-100670634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100630200-100673600	Weak transcription	Ovary	ovary
2	chr3:100660600-100673200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:100660600-100673600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:100660600-100673600	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:100660800-100672800	Weak transcription	HSMM	muscle
6	chr3:100667000-100675600	Weak transcription	Aorta	Aorta
7	chr3:100667400-100671600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:100667400-100672200	Weak transcription	NHDF-Ad	bronchial
9	chr3:100667400-100672600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:100667400-100672600	Weak transcription	Osteobl	bone
11	chr3:100667400-100673400	Weak transcription	Fetal Stomach	stomach
12	chr3:100668600-100671800	Weak transcription	HSMMtube	muscle
13	chr3:100669000-100669400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:100669400-100672400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links