Variant report

Variant	nsv963281
Chromosome Location	chr3:155018870-155021465
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:155009118..155010952-chr3:155020666..155023404,2	K562	blood:
2	chr3:155014856..155017723-chr3:155018548..155020187,2	K562	blood:
3	chr3:155014661..155016356-chr3:155017563..155020187,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114719620	chr3:155018885-155018886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528069093	chr3:155018891-155018892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569357754	chr3:155018913-155018914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12490500	chr3:155018941-155018942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs16824812	chr3:155018949-155018950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550816939	chr3:155018978-155018979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77114146	chr3:155018998-155018999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536068824	chr3:155019000-155019001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372492526	chr3:155019024-155019025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575898378	chr3:155019084-155019085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187871815	chr3:155019116-155019117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558609092	chr3:155019147-155019148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561864297	chr3:155019202-155019203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78167402	chr3:155019217-155019218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566906299	chr3:155019228-155019229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145130477	chr3:155019229-155019230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201045832	chr3:155019237-155019238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1564851	chr3:155019238-155019239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1564852	chr3:155019239-155019240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375421950	chr3:155019251-155019252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200786960	chr3:155019257-155019258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1564853	chr3:155019268-155019269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560596162	chr3:155019284-155019285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192038058	chr3:155019306-155019307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1564854	chr3:155019323-155019324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs76411871	chr3:155019340-155019341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370155045	chr3:155019399-155019400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537490737	chr3:155019432-155019433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140718002	chr3:155019433-155019434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112036080	chr3:155019434-155019435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34849486	chr3:155019442-155019443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112763134	chr3:155019489-155019490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571070335	chr3:155019645-155019646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116170314	chr3:155019681-155019682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557570127	chr3:155019715-155019716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572933794	chr3:155019743-155019744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs16824813	chr3:155019787-155019788	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs377432337	chr3:155019859-155019860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2200391	chr3:155019896-155019897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116548982	chr3:155019914-155019915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2200392	chr3:155019933-155019934	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs544503634	chr3:155019936-155019937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562745419	chr3:155019953-155019954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532981127	chr3:155019996-155019997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181393187	chr3:155020005-155020006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570483346	chr3:155020008-155020009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79624742	chr3:155020020-155020021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184928632	chr3:155020024-155020025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567304135	chr3:155020029-155020030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538185682	chr3:155020068-155020069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	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
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155009200-155026600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:155012800-155021200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:155018600-155019000	Enhancers	Fetal Heart	heart
4	chr3:155019000-155020400	Weak transcription	Fetal Heart	heart
5	chr3:155019600-155020600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:155019600-155020800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:155019800-155020600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:155019800-155020600	Enhancers	Fetal Intestine Small	intestine
9	chr3:155019800-155020600	Enhancers	NHDF-Ad	bronchial
10	chr3:155019800-155020800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:155019800-155021000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:155019800-155021600	Enhancers	Duodenum Mucosa	Duodenum
13	chr3:155020200-155020600	Enhancers	Osteobl	bone
14	chr3:155020400-155020600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:155020400-155021400	Enhancers	Liver	Liver
16	chr3:155020400-155021800	Enhancers	Fetal Heart	heart
17	chr3:155020400-155022400	Enhancers	HepG2	liver
18	chr3:155020600-155020800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:155020600-155021000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:155020600-155021000	Weak transcription	Fetal Intestine Small	intestine
21	chr3:155020600-155021400	Enhancers	A549	lung
22	chr3:155020600-155022000	Enhancers	Fetal Intestine Large	intestine
23	chr3:155020600-155027400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:155020800-155022000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:155020800-155026600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:155021000-155022400	Enhancers	Fetal Intestine Small	intestine
27	chr3:155021000-155022600	Enhancers	K562	blood
28	chr3:155021000-155025800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:155021200-155021600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:155021200-155021600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr3:155021400-155021600	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links