Variant report

Variant	esv3409148
Chromosome Location	chr3:146184258-146185130
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	chr3:146139318..146141303-chr3:146183434..146185764,2	MCF-7	breast:
2	chr3:146176309..146178627-chr3:146183394..146185507,2	K562	blood:

Variant related genes	Relation type
ENSG00000163746	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534427750	chr3:146184365-146184366	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558851065	chr3:146184448-146184449	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185334046	chr3:146184467-146184468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548619813	chr3:146184510-146184511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569607573	chr3:146184518-146184519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372270332	chr3:146184563-146184564	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138416035	chr3:146184573-146184574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567144224	chr3:146184581-146184582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556642231	chr3:146184596-146184597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369012226	chr3:146184620-146184621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs509382	chr3:146184701-146184702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs372805624	chr3:146184728-146184729	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554085027	chr3:146184735-146184736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572217615	chr3:146184754-146184755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542216803	chr3:146184763-146184764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369319960	chr3:146184775-146184776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545993492	chr3:146184818-146184819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558872928	chr3:146184852-146184853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs564083148	chr3:146184854-146184855	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531436723	chr3:146184873-146184874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543146252	chr3:146184895-146184896	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190184264	chr3:146184916-146184917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs528838176	chr3:146184957-146184958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546962241	chr3:146185010-146185011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566840176	chr3:146185013-146185014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76774339	chr3:146185035-146185036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552741183	chr3:146185040-146185041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570954083	chr3:146185073-146185074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150195767	chr3:146185107-146185108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Basal cell lymphoma	21115979	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
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146181600-146185000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:146181600-146185200	Enhancers	NHDF-Ad	bronchial
3	chr3:146181600-146185800	Weak transcription	K562	blood
4	chr3:146181600-146187000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:146181800-146185000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:146182400-146185200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr3:146182600-146185200	Enhancers	A549	lung
8	chr3:146182600-146186000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:146183000-146186200	Weak transcription	Fetal Stomach	stomach
10	chr3:146183000-146187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:146183000-146187000	Weak transcription	HMEC	breast
12	chr3:146183000-146187000	Weak transcription	NHEK	skin
13	chr3:146183400-146185800	Weak transcription	Fetal Heart	heart
14	chr3:146183600-146186000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:146183600-146187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:146183800-146185400	Enhancers	NHLF	lung
17	chr3:146184000-146184800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr3:146184000-146185000	Enhancers	Hela-S3	cervix
19	chr3:146184000-146185200	Enhancers	Osteobl	bone
20	chr3:146184000-146186200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:146184000-146187000	Weak transcription	Right Atrium	heart
22	chr3:146184200-146184800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:146184200-146186800	Weak transcription	Esophagus	oesophagus
24	chr3:146184200-146186800	Weak transcription	Pancreas	Pancrea
25	chr3:146184200-146187000	Weak transcription	Aorta	Aorta
26	chr3:146184200-146187000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:146184400-146186000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:146184800-146185600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr3:146184800-146186000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:146185000-146185800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:146185000-146186000	Weak transcription	Hela-S3	cervix
32	chr3:146185000-146186200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links