Variant report

Variant	esv2582112
Chromosome Location	chr3:157082158-157083448
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr3:157083249-157083647	HUVEC	blood vessel:	n/a	chr3:157083451-157083462
2	FOS	chr3:157083423-157083434	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr3:157082601-157082634	K562	blood:	n/a	n/a

Variant related genes	Relation type
VEPH1	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144626872	chr3:157082159-157082160	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377759596	chr3:157082170-157082171	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573123156	chr3:157082179-157082180	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560830784	chr3:157082186-157082187	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370824292	chr3:157082223-157082224	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138456629	chr3:157082245-157082246	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367738920	chr3:157082289-157082290	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540489488	chr3:157082304-157082305	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147574752	chr3:157082309-157082310	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113257684	chr3:157082436-157082437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571981410	chr3:157082476-157082477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75812544	chr3:157082501-157082502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114647294	chr3:157082505-157082506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562594832	chr3:157082582-157082583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113761963	chr3:157082588-157082589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1500917	chr3:157082593-157082594	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545204171	chr3:157082614-157082615	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs531451917	chr3:157082623-157082624	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs560364100	chr3:157082669-157082670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149212653	chr3:157082711-157082712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549250117	chr3:157082729-157082730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs16827540	chr3:157082762-157082763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs77513292	chr3:157082779-157082780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569346657	chr3:157082814-157082815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550730448	chr3:157082826-157082827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182019022	chr3:157082827-157082828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539517922	chr3:157082843-157082844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549863761	chr3:157082850-157082851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186040892	chr3:157082955-157082956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374021400	chr3:157083091-157083092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373368125	chr3:157083127-157083128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151291720	chr3:157083137-157083138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556023409	chr3:157083147-157083148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199818016	chr3:157083163-157083164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73873652	chr3:157083221-157083222	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544181199	chr3:157083257-157083258	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs35923700	chr3:157083259-157083260	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs555916777	chr3:157083267-157083268	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs35194448	chr3:157083279-157083280	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs577737496	chr3:157083294-157083295	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs191757183	chr3:157083307-157083308	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs183270405	chr3:157083352-157083353	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs73873653	chr3:157083370-157083371	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542494942	chr3:157083418-157083419	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	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
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157066000-157086800	Weak transcription	Pancreas	Pancrea
2	chr3:157066600-157083200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:157077600-157083400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:157078200-157083400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:157078200-157102400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr3:157078600-157083800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:157078800-157083600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:157078800-157091600	Weak transcription	NH-A	brain
9	chr3:157079200-157087600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:157079400-157082800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:157079400-157083000	Weak transcription	A549	lung
12	chr3:157079400-157083200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:157079600-157082200	Weak transcription	NHDF-Ad	bronchial
14	chr3:157080400-157082600	Enhancers	Fetal Lung	lung
15	chr3:157081000-157082400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:157081000-157083600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:157081400-157083200	Weak transcription	Osteobl	bone
18	chr3:157081600-157083200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:157081600-157091600	Weak transcription	NHLF	lung
20	chr3:157081600-157093800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:157082000-157082200	Enhancers	HSMM	muscle
22	chr3:157082000-157082800	Weak transcription	HUVEC	blood vessel
23	chr3:157082200-157083200	Weak transcription	HSMM	muscle
24	chr3:157082200-157083800	Enhancers	NHDF-Ad	bronchial
25	chr3:157082400-157082600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:157082400-157084600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:157082600-157083200	Weak transcription	Fetal Lung	lung
28	chr3:157082800-157083200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:157082800-157083400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:157082800-157083600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:157082800-157084000	Enhancers	HUVEC	blood vessel
32	chr3:157083000-157083600	Enhancers	A549	lung
33	chr3:157083000-157083800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr3:157083200-157083600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:157083200-157083600	Enhancers	HSMM	muscle
36	chr3:157083200-157083800	Enhancers	Fetal Lung	lung
37	chr3:157083200-157084000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:157083200-157084000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:157083200-157084200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:157083200-157084200	Enhancers	Osteobl	bone
41	chr3:157083200-157084800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:157083400-157083600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:157083400-157084200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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