Variant report

Variant	esv3361557
Chromosome Location	chr3:46527462-46528216
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	MAFK	chr3:46527278-46527490	HepG2	liver:	n/a	n/a
2	MAFK	chr3:46527266-46527507	HepG2	liver:	n/a	n/a
3	NFYB	chr3:46527662-46527894	K562	blood:	n/a	n/a
4	NR2F2	chr3:46527511-46527753	K562	blood:	n/a	n/a
5	NR3C1	chr3:46527243-46527552	ECC-1	luminal epithelium:	n/a	n/a
6	NR3C1	chr3:46527235-46527585	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46526738..46529447-chr3:46598574..46601375,2	K562	blood:

Variant related genes	Relation type
LTF	TF binding region
ENSG00000268324	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375849120	chr3:46527489-46527490	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs114092788	chr3:46527491-46527492	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542194542	chr3:46527528-46527529	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs557319090	chr3:46527558-46527559	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575588184	chr3:46527595-46527596	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546276436	chr3:46527605-46527606	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs564572062	chr3:46527667-46527668	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs4683239	chr3:46527686-46527687	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs190171735	chr3:46527725-46527726	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs61550542	chr3:46527802-46527803	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529978394	chr3:46527813-46527814	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs566764622	chr3:46527814-46527815	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs182540188	chr3:46527817-46527818	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs59736457	chr3:46527865-46527866	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530434007	chr3:46527885-46527886	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1402151	chr3:46527930-46527931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570237630	chr3:46527961-46527962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187245683	chr3:46528032-46528033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553519018	chr3:46528051-46528052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs57046671	chr3:46528084-46528085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568591008	chr3:46528087-46528088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536136313	chr3:46528092-46528093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs67091203	chr3:46528114-46528115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs575661149	chr3:46528125-46528126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs74520969	chr3:46528186-46528187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12637386	chr3:46528199-46528200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10693329	chr3:46528208-46528209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs58396674	chr3:46528209-46528210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs386396544	chr3:46528210-46528211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs72581951	chr3:46528211-46528212	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs397713410	chr3:46528212-46528213	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200031476	chr3:46528213-46528214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
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
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46511800-46530200	Weak transcription	Right Atrium	heart
2	chr3:46522800-46530200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr3:46522800-46530400	Weak transcription	Gastric	stomach
4	chr3:46523400-46529400	Weak transcription	Brain Substantia Nigra	brain
5	chr3:46524400-46528400	Enhancers	Fetal Intestine Large	intestine
6	chr3:46524600-46528400	Enhancers	Fetal Intestine Small	intestine
7	chr3:46524800-46527600	Enhancers	Fetal Muscle Leg	muscle
8	chr3:46524800-46530400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:46525000-46530600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:46525200-46530000	Weak transcription	NH-A	brain
11	chr3:46525800-46530400	Weak transcription	Right Ventricle	heart
12	chr3:46526200-46527800	Enhancers	Duodenum Mucosa	Duodenum
13	chr3:46526200-46530200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr3:46526800-46530400	Weak transcription	Spleen	Spleen
15	chr3:46527000-46528400	Enhancers	Fetal Kidney	kidney
16	chr3:46527000-46530400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:46527200-46527600	Enhancers	HepG2	liver
18	chr3:46527200-46530200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:46527200-46530200	Weak transcription	Placenta	Placenta
20	chr3:46527200-46530400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:46527200-46530400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:46527400-46530200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:46527400-46530400	Weak transcription	Pancreas	Pancrea
24	chr3:46527400-46530400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:46527400-46530400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr3:46527400-46530400	Weak transcription	Stomach Mucosa	stomach
27	chr3:46527400-46530400	Weak transcription	HSMM	muscle
28	chr3:46527400-46530600	Weak transcription	HSMMtube	muscle
29	chr3:46527600-46530200	Weak transcription	Fetal Muscle Leg	muscle
30	chr3:46527600-46530400	Weak transcription	HepG2	liver
31	chr3:46527800-46530400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr3:46528200-46528400	Enhancers	Primary B cells from cord blood	blood

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