Variant report

Variant	esv3398903
Chromosome Location	chr3:52056112-52061110
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52060421..52065315-chr3:52077239..52080916,4	K562	blood:
2	chr3:52048651..52051946-chr3:52056389..52059628,4	K562	blood:
3	chr3:52048430..52050656-chr3:52053899..52056295,3	K562	blood:
4	chr3:51975350..51976898-chr3:52056467..52059042,2	K562	blood:
5	chr3:52058192..52060960-chr3:52064469..52066894,2	K562	blood:
6	chr3:52048651..52051918-chr3:52057028..52059628,3	K562	blood:
7	chr3:52053407..52057032-chr3:52057873..52061894,4	K562	blood:
8	chr3:52053407..52057032-chr3:52057873..52061894,4	K562	blood:
9	chr3:52048055..52051356-chr3:52052467..52056276,3	K562	blood:
10	chr3:52059478..52062079-chr3:52187241..52190145,3	K562	blood:
11	chr3:52060421..52063278-chr3:52077239..52079436,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000114767	chromatin interactions
ENSG00000041880	chromatin interactions
ENSG00000164087	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116814462	chr3:52056133-52056134	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs542558947	chr3:52056175-52056176	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs561231436	chr3:52056176-52056177	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs531446065	chr3:52056227-52056228	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs35503077	chr3:52056237-52056238	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs115887445	chr3:52056256-52056257	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs74429412	chr3:52056267-52056268	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs532266858	chr3:52056306-52056307	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs184152452	chr3:52056318-52056319	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs565689823	chr3:52056401-52056402	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs188826156	chr3:52056463-52056464	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs149295258	chr3:52056464-52056465	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs78235752	chr3:52056479-52056480	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs531330346	chr3:52056491-52056492	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs181460770	chr3:52056496-52056497	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs146329790	chr3:52056498-52056499	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs374591776	chr3:52056513-52056514	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs144563055	chr3:52056542-52056543	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs577778578	chr3:52056582-52056583	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373660882	chr3:52056583-52056584	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs115315068	chr3:52056629-52056630	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553800487	chr3:52056640-52056641	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs148461046	chr3:52056648-52056649	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs377510317	chr3:52056649-52056650	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs371440734	chr3:52056712-52056713	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561062609	chr3:52056831-52056832	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs576265246	chr3:52056832-52056833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs543325133	chr3:52056835-52056836	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs141768140	chr3:52056855-52056856	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs572066368	chr3:52056867-52056868	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs146033105	chr3:52056886-52056887	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs34807207	chr3:52056892-52056893	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs547520492	chr3:52056893-52056894	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs545518738	chr3:52056897-52056898	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370955228	chr3:52056898-52056899	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs548156328	chr3:52056900-52056901	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs376550550	chr3:52056944-52056945	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs569519605	chr3:52056959-52056960	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs186980710	chr3:52056984-52056985	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs191869043	chr3:52057007-52057008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs571508125	chr3:52057023-52057024	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs182445833	chr3:52057052-52057053	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs576690232	chr3:52057059-52057060	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs375260243	chr3:52057062-52057063	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs77801904	chr3:52057114-52057115	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs572485690	chr3:52057120-52057121	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs368203137	chr3:52057137-52057138	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs536278124	chr3:52057158-52057159	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs368175337	chr3:52057162-52057163	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs559018775	chr3:52057191-52057192	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52046200-52058600	Enhancers	Spleen	Spleen
2	chr3:52046200-52060600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:52048000-52056600	Enhancers	Right Ventricle	heart
4	chr3:52048600-52056600	Enhancers	Left Ventricle	heart
5	chr3:52048600-52056800	Enhancers	Psoas Muscle	Psoas
6	chr3:52048600-52061000	Enhancers	Fetal Muscle Leg	muscle
7	chr3:52050000-52056600	Enhancers	Right Atrium	heart
8	chr3:52050600-52073400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:52052600-52058000	Enhancers	Fetal Heart	heart
10	chr3:52053000-52058400	Enhancers	Placenta	Placenta
11	chr3:52053000-52060400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:52054200-52056200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:52054200-52057200	Weak transcription	GM12878-XiMat	blood
14	chr3:52054200-52057400	Enhancers	Stomach Smooth Muscle	stomach
15	chr3:52054200-52057600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:52054400-52059600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:52054600-52060600	Enhancers	Lung	lung
18	chr3:52054800-52056200	Weak transcription	Aorta	Aorta
19	chr3:52055000-52057800	Enhancers	Esophagus	oesophagus
20	chr3:52055000-52058000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr3:52055200-52056200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:52055200-52056600	Enhancers	HSMM	muscle
23	chr3:52055200-52058400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:52055200-52058400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:52055400-52056200	Enhancers	Primary hematopoietic stem cells	blood
26	chr3:52055400-52056200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:52055400-52056600	Enhancers	Osteobl	bone
28	chr3:52055400-52058000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr3:52055600-52056200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr3:52055600-52056200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:52055600-52056200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:52055600-52056400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:52055600-52056400	Enhancers	HSMMtube	muscle
34	chr3:52055600-52057200	Enhancers	K562	blood
35	chr3:52055600-52057400	Enhancers	Fetal Brain Female	brain
36	chr3:52055600-52058000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:52055600-52058000	Enhancers	Brain Substantia Nigra	brain
38	chr3:52055600-52058200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:52055600-52058200	Enhancers	Fetal Stomach	stomach
40	chr3:52055600-52058400	Enhancers	Brain Anterior Caudate	brain
41	chr3:52055600-52058600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:52055600-52058600	Enhancers	Brain Cingulate Gyrus	brain
43	chr3:52055600-52058600	Enhancers	Brain Hippocampus Middle	brain
44	chr3:52055600-52058600	Enhancers	NHDF-Ad	bronchial
45	chr3:52055600-52060800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr3:52055800-52056200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr3:52055800-52057000	Enhancers	Adipose Nuclei	Adipose
48	chr3:52055800-52057400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr3:52055800-52057600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:52055800-52057800	Enhancers	Fetal Brain Male	brain

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