Variant report

Variant	nsv963259
Chromosome Location	chr3:52131542-52139351
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52125379..52127206-chr3:52129212..52131778,2	MCF-7	breast:
2	chr3:52132894..52135782-chr3:52312106..52313772,2	K562	blood:
3	chr3:52102072..52104236-chr3:52134080..52136979,2	K562	blood:
4	chr3:52131304..52133205-chr3:52136304..52138241,3	K562	blood:
5	chr3:52090535..52092344-chr3:52130549..52132404,2	MCF-7	breast:
6	chr3:52127256..52128902-chr3:52133250..52136103,2	MCF-7	breast:
7	chr3:52131272..52134200-chr3:52142689..52145200,2	K562	blood:
8	chr3:52125744..52128166-chr3:52131962..52134526,2	MCF-7	breast:
9	chr3:52131304..52133205-chr3:52136304..52138241,3	K562	blood:
10	chr3:52117533..52120649-chr3:52132486..52135579,3	K562	blood:
11	chr3:52133422..52135026-chr3:52139587..52141150,2	MCF-7	breast:
12	chr3:52135638..52138438-chr3:52142187..52143836,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164086	chromatin interactions
ENSG00000164091	chromatin interactions

Extended variants
information (count: 243 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550996560	chr3:52131593-52131594	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563153724	chr3:52131605-52131606	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs61467183	chr3:52131622-52131623	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34758423	chr3:52131671-52131672	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs187646705	chr3:52131677-52131678	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs147397171	chr3:52131681-52131682	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148037972	chr3:52131747-52131748	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559739160	chr3:52131756-52131757	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558115329	chr3:52131777-52131778	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191163314	chr3:52131808-52131809	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs115542199	chr3:52131836-52131837	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372647407	chr3:52131906-52131907	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs540480326	chr3:52131908-52131909	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141766626	chr3:52131944-52131945	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9843852	chr3:52132029-52132030	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs72955240	chr3:52132045-52132046	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562410286	chr3:52132061-52132062	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528739017	chr3:52132069-52132070	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532978264	chr3:52132137-52132138	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550943179	chr3:52132166-52132167	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs182987523	chr3:52132203-52132204	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs73082779	chr3:52132239-52132240	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188430666	chr3:52132352-52132353	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568641020	chr3:52132374-52132375	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571802086	chr3:52132386-52132387	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs539149698	chr3:52132497-52132498	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76330761	chr3:52132506-52132507	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371401514	chr3:52132524-52132525	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143209403	chr3:52132539-52132540	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557397221	chr3:52132544-52132545	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376820290	chr3:52132560-52132561	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191922607	chr3:52132574-52132575	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368533242	chr3:52132584-52132585	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571757201	chr3:52132679-52132680	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539849272	chr3:52132706-52132707	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544571670	chr3:52132711-52132712	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573214171	chr3:52132739-52132740	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146209735	chr3:52132793-52132794	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372589566	chr3:52132810-52132811	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573796836	chr3:52132824-52132825	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35057316	chr3:52132838-52132839	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544061219	chr3:52132883-52132884	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184352127	chr3:52132928-52132929	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187645245	chr3:52132929-52132930	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192573557	chr3:52132976-52132977	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs371925803	chr3:52133036-52133037	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559727995	chr3:52133040-52133041	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs527248753	chr3:52133042-52133043	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs139232798	chr3:52133057-52133058	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185834083	chr3:52133072-52133073	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52105800-52142400	Weak transcription	Primary B cells from cord blood	blood
2	chr3:52110600-52179400	Weak transcription	Brain Germinal Matrix	brain
3	chr3:52115800-52133000	Weak transcription	Gastric	stomach
4	chr3:52122000-52140000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:52122800-52142200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:52123600-52135200	Strong transcription	Dnd41	blood
7	chr3:52124200-52138200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr3:52124200-52157200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:52124400-52132800	Weak transcription	Stomach Mucosa	stomach
10	chr3:52124600-52134200	Weak transcription	A549	lung
11	chr3:52124800-52142000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:52125000-52140400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:52125200-52132600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:52125400-52133400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:52125400-52138400	Weak transcription	Fetal Intestine Large	intestine
16	chr3:52125600-52132800	Strong transcription	Fetal Intestine Small	intestine
17	chr3:52125600-52135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:52125800-52132000	Weak transcription	K562	blood
19	chr3:52125800-52133400	Strong transcription	Thymus	Thymus
20	chr3:52125800-52134200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:52125800-52139800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:52125800-52142400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:52126000-52132600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:52126000-52132800	Strong transcription	Fetal Stomach	stomach
25	chr3:52126200-52135200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:52126200-52160600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:52126400-52132200	Weak transcription	Fetal Lung	lung
28	chr3:52126600-52132400	Weak transcription	Brain Angular Gyrus	brain
29	chr3:52127000-52131800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:52127000-52132000	Weak transcription	Right Ventricle	heart
31	chr3:52127000-52132400	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:52127000-52134600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:52127200-52131800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:52127200-52132400	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr3:52127400-52131600	Weak transcription	Right Atrium	heart
36	chr3:52127400-52131800	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr3:52127400-52139200	Weak transcription	Esophagus	oesophagus
38	chr3:52127800-52132400	Weak transcription	Left Ventricle	heart
39	chr3:52128200-52140800	Weak transcription	Spleen	Spleen
40	chr3:52128400-52132000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:52128400-52132000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:52128400-52132000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:52128400-52132200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:52128400-52133000	Weak transcription	Osteobl	bone
45	chr3:52128400-52133200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:52128400-52142200	Weak transcription	NHDF-Ad	bronchial
47	chr3:52128400-52142600	Weak transcription	NH-A	brain
48	chr3:52128600-52131600	Strong transcription	Hela-S3	cervix
49	chr3:52128600-52157000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:52128800-52134600	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links