Variant report

Variant	esv2753648
Chromosome Location	chr3:140247073-140250708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs168387	chr3:140247073-140247074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551732697	chr3:140247088-140247089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76067639	chr3:140247094-140247095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530856234	chr3:140247098-140247099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs349533	chr3:140247102-140247103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114611632	chr3:140247106-140247107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373916708	chr3:140247155-140247156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4683505	chr3:140247177-140247178	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
9	rs571475552	chr3:140247190-140247191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370932949	chr3:140247197-140247198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538834050	chr3:140247207-140247208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557262649	chr3:140247248-140247249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575894308	chr3:140247279-140247280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546925636	chr3:140247310-140247311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185391254	chr3:140247366-140247367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191083317	chr3:140247393-140247394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573673283	chr3:140247394-140247395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149536353	chr3:140247399-140247400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35244841	chr3:140247412-140247413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559473085	chr3:140247419-140247420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577939370	chr3:140247428-140247429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144081389	chr3:140247471-140247472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371806297	chr3:140247472-140247473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563474675	chr3:140247473-140247474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3057900	chr3:140247479-140247480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61047817	chr3:140247486-140247487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530793316	chr3:140247503-140247504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77917829	chr3:140247504-140247505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561308324	chr3:140247523-140247524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528580364	chr3:140247587-140247588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546725374	chr3:140247617-140247618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183395351	chr3:140247655-140247656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566636788	chr3:140247663-140247664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17415160	chr3:140247702-140247703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551146834	chr3:140247708-140247709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569462503	chr3:140247730-140247731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536921203	chr3:140247765-140247766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555082205	chr3:140247768-140247769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567286512	chr3:140247821-140247822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142141915	chr3:140247827-140247828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553148925	chr3:140247829-140247830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188376351	chr3:140247856-140247857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116366178	chr3:140247857-140247858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545232886	chr3:140247873-140247874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4683506	chr3:140247880-140247881	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs349534	chr3:140247885-140247886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542874875	chr3:140247899-140247900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372729565	chr3:140247910-140247911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561010969	chr3:140247920-140247921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528496605	chr3:140247943-140247944	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
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	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
Lung cancer	16740712	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
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Schizophrenia	17989066	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140224400-140247200	Weak transcription	Ovary	ovary
2	chr3:140237400-140249400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:140242200-140249400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:140243400-140247600	Weak transcription	HSMMtube	muscle
5	chr3:140245400-140250000	Enhancers	HSMM	muscle
6	chr3:140245600-140251200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:140245800-140251000	Enhancers	HMEC	breast
8	chr3:140246600-140247600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:140247000-140250000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:140247200-140249800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:140247200-140250000	Enhancers	Ovary	ovary
12	chr3:140247200-140250800	Enhancers	NHEK	skin
13	chr3:140247600-140249400	Enhancers	HSMMtube	muscle
14	chr3:140247600-140249600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:140247600-140249800	Enhancers	NH-A	brain
16	chr3:140247800-140248400	Enhancers	Adipose Nuclei	Adipose
17	chr3:140247800-140248800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:140248000-140248200	Enhancers	Fetal Muscle Leg	muscle
19	chr3:140248000-140248200	Enhancers	Psoas Muscle	Psoas
20	chr3:140248000-140248400	Bivalent Enhancer	Left Ventricle	heart
21	chr3:140248000-140248800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:140248000-140248800	Enhancers	Osteobl	bone
23	chr3:140248200-140248800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:140248400-140248800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:140248400-140248800	Enhancers	Colon Smooth Muscle	Colon
26	chr3:140248400-140249400	Weak transcription	Fetal Muscle Leg	muscle
27	chr3:140248400-140251200	Weak transcription	Adipose Nuclei	Adipose
28	chr3:140248400-140254200	Weak transcription	Psoas Muscle	Psoas
29	chr3:140249200-140249800	Enhancers	Fetal Lung	lung
30	chr3:140249400-140249600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:140249400-140249600	Flanking Active TSS	HSMMtube	muscle
32	chr3:140249400-140249800	Enhancers	Fetal Muscle Leg	muscle
33	chr3:140249400-140250400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:140249600-140249800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:140249600-140250800	Enhancers	HSMMtube	muscle
36	chr3:140249800-140250000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:140249800-140250600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:140250000-140251800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:140250000-140253000	Weak transcription	Ovary	ovary
40	chr3:140250000-140260400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:140250400-140253000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:140250600-140250800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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