Variant report

Variant	esv3335681
Chromosome Location	chr3:43596648-43600746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr3:43597787-43597849	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr3:43600445-43600480	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:43597436-43597515	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:43598187..43599814-chr3:43732454..43734757,2	K562	blood:
2	chr3:43585797..43588014-chr3:43597479..43599689,2	K562	blood:
3	chr3:43596981..43599663-chr3:43600063..43602874,2	K562	blood:
4	chr3:43594816..43596993-chr3:43599565..43601407,2	MCF-7	breast:
5	chr3:43600622..43603155-chr3:43732043..43734565,2	MCF-7	breast:
6	chr3:43596981..43599663-chr3:43600063..43602874,2	K562	blood:
7	chr3:43597398..43599637-chr3:43690273..43692203,2	K562	blood:
8	chr3:43598137..43600828-chr3:43690273..43693034,2	K562	blood:

No data

Variant related genes	Relation type
ANO10	TF binding region
ENSG00000011198	chromatin interactions
ENSG00000160746	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147520095	chr3:43596654-43596655	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185962719	chr3:43596688-43596689	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376240935	chr3:43596700-43596701	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139348667	chr3:43596759-43596760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573167523	chr3:43596760-43596761	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538680619	chr3:43596795-43596796	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372086237	chr3:43596810-43596811	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562390589	chr3:43596834-43596835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149914846	chr3:43596872-43596873	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150026260	chr3:43596879-43596880	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149046491	chr3:43596889-43596890	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376056799	chr3:43596890-43596891	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140436050	chr3:43596900-43596901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs387907089	chr3:43596909-43596910	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369410702	chr3:43596912-43596913	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200123518	chr3:43596917-43596918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201719088	chr3:43596928-43596929	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145543748	chr3:43596945-43596946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78884042	chr3:43596975-43596976	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368870797	chr3:43596980-43596981	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4682893	chr3:43596998-43596999	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs201228393	chr3:43597003-43597004	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560468868	chr3:43597069-43597070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs56218860	chr3:43597077-43597078	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551887059	chr3:43597100-43597101	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542520672	chr3:43597119-43597120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148784241	chr3:43597134-43597135	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531355030	chr3:43597143-43597144	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547861184	chr3:43597202-43597203	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147920165	chr3:43597225-43597226	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567557321	chr3:43597237-43597238	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536463335	chr3:43597271-43597272	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573839664	chr3:43597294-43597295	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546763618	chr3:43597321-43597322	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566827735	chr3:43597323-43597324	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539279881	chr3:43597330-43597331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34709373	chr3:43597360-43597361	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558721104	chr3:43597369-43597370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143212480	chr3:43597409-43597410	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190317290	chr3:43597454-43597455	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs560589806	chr3:43597459-43597460	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs555085327	chr3:43597621-43597622	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527709406	chr3:43597642-43597643	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552573830	chr3:43597716-43597717	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574949184	chr3:43597724-43597725	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540452200	chr3:43597727-43597728	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181904575	chr3:43597816-43597817	Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs146662459	chr3:43597840-43597841	Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs34833600	chr3:43597901-43597902	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546077553	chr3:43597925-43597926	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
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
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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	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
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43540200-43602200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:43544000-43617600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:43553000-43601600	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:43556200-43624800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:43558600-43625600	Weak transcription	Lung	lung
6	chr3:43560800-43618000	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:43561200-43601200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:43561400-43600400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:43561600-43601000	Weak transcription	Pancreas	Pancrea
10	chr3:43561800-43602000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:43571000-43613600	Weak transcription	Gastric	stomach
12	chr3:43573800-43601400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:43573800-43617800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:43574800-43662400	Weak transcription	Right Ventricle	heart
15	chr3:43576200-43601000	Weak transcription	Esophagus	oesophagus
16	chr3:43576200-43623800	Weak transcription	Psoas Muscle	Psoas
17	chr3:43576400-43613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:43576400-43621200	Weak transcription	NHEK	skin
19	chr3:43577600-43625400	Weak transcription	HUVEC	blood vessel
20	chr3:43578200-43599800	Weak transcription	Fetal Brain Female	brain
21	chr3:43579200-43600200	Weak transcription	Liver	Liver
22	chr3:43580600-43647600	Weak transcription	Brain Angular Gyrus	brain
23	chr3:43580800-43613800	Weak transcription	Aorta	Aorta
24	chr3:43581800-43601400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:43582000-43601600	Weak transcription	HepG2	liver
26	chr3:43582200-43600600	Weak transcription	Placenta	Placenta
27	chr3:43582400-43607000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:43582600-43617800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:43582800-43602200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:43584000-43632800	Weak transcription	Small Intestine	intestine
31	chr3:43584600-43614000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:43585600-43602200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:43585600-43624400	Weak transcription	Fetal Lung	lung
34	chr3:43585800-43598200	Weak transcription	Stomach Mucosa	stomach
35	chr3:43585800-43603800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr3:43585800-43617800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr3:43587000-43647200	Weak transcription	Fetal Kidney	kidney
38	chr3:43587200-43632000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr3:43587800-43634000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:43588800-43617800	Weak transcription	Brain Anterior Caudate	brain
41	chr3:43589000-43618000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:43589000-43648400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:43589200-43617600	Weak transcription	Colonic Mucosa	Colon
44	chr3:43589600-43603400	Weak transcription	Fetal Brain Male	brain
45	chr3:43589600-43617400	Weak transcription	Primary T cells from cord blood	blood
46	chr3:43589600-43625600	Weak transcription	Brain Substantia Nigra	brain
47	chr3:43590000-43602200	Weak transcription	NHLF	lung
48	chr3:43590600-43611400	Weak transcription	Brain Germinal Matrix	brain
49	chr3:43590600-43636400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr3:43591000-43601400	Weak transcription	Ovary	ovary

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