Variant report

Variant	nsv590303
Chromosome Location	chr3:52469785-52478428
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52467987..52470484-chr3:52476648..52478461,2	K562	blood:
2	chr3:52468021..52470813-chr3:52473930..52477300,4	MCF-7	breast:
3	chr3:52468021..52470813-chr3:52473930..52477300,4	MCF-7	breast:
4	chr3:52462146..52465116-chr3:52469373..52470993,2	K562	blood:
5	chr3:52310738..52312767-chr3:52476812..52478941,2	K562	blood:
6	chr3:52456788..52463599-chr3:52473182..52477176,6	K562	blood:
7	chr3:52310738..52313208-chr3:52476812..52479185,3	K562	blood:
8	chr3:52463018..52466241-chr3:52472841..52475909,3	MCF-7	breast:
9	chr3:52458322..52461019-chr3:52473695..52476448,2	K562	blood:
10	chr3:52471886..52474834-chr3:52476062..52479987,6	MCF-7	breast:
11	chr3:52470597..52472566-chr3:52486223..52488356,2	K562	blood:
12	chr3:52467987..52470484-chr3:52476648..52478461,2	K562	blood:
13	chr3:52468984..52472313-chr3:52476961..52479325,3	K562	blood:
14	chr3:52454776..52457169-chr3:52474069..52476280,2	K562	blood:
15	chr3:52475844..52477780-chr3:52570029..52571892,2	MCF-7	breast:
16	chr3:52473006..52475659-chr3:52488110..52490885,2	MCF-7	breast:
17	chr3:52468739..52471066-chr3:52488025..52490094,2	K562	blood:
18	chr3:52463683..52467756-chr3:52469500..52473710,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000010318	chromatin interactions
ENSG00000010322	chromatin interactions
ENSG00000114854	chromatin interactions
ENSG00000164091	chromatin interactions
ENSG00000168273	chromatin interactions
ENSG00000010319	chromatin interactions

Extended variants
information (count: 445 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34058757	chr3:52469785-52469786	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550878485	chr3:52469804-52469805	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs138427289	chr3:52469807-52469808	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs533281627	chr3:52469808-52469809	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs143334628	chr3:52469839-52469840	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs143316722	chr3:52469844-52469845	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs199738568	chr3:52469887-52469888	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs138549917	chr3:52469889-52469890	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs200593686	chr3:52469894-52469895	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs370282481	chr3:52469908-52469909	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs143787641	chr3:52469914-52469915	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs149805640	chr3:52469941-52469942	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs185476879	chr3:52469956-52469957	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs572086601	chr3:52469995-52469996	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs139348169	chr3:52470003-52470004	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs201353450	chr3:52470006-52470007	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs149754805	chr3:52470017-52470018	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs558407652	chr3:52470018-52470019	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs200142915	chr3:52470019-52470020	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs534522733	chr3:52470031-52470032	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs145646348	chr3:52470033-52470034	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs142042017	chr3:52470041-52470042	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs572843419	chr3:52470053-52470054	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs377268528	chr3:52470055-52470056	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs369858134	chr3:52470056-52470057	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs561801072	chr3:52470060-52470061	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs151151732	chr3:52470061-52470062	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs145809970	chr3:52470074-52470075	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs141710411	chr3:52470075-52470076	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs200816034	chr3:52470078-52470079	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs115134928	chr3:52470081-52470082	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs376737486	chr3:52470099-52470100	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs370902272	chr3:52470110-52470111	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs564324191	chr3:52470125-52470126	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs111410797	chr3:52470157-52470158	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs533040208	chr3:52470170-52470171	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs182689922	chr3:52470173-52470174	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs35027771	chr3:52470178-52470179	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs560280805	chr3:52470185-52470186	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs529286895	chr3:52470236-52470237	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs549046685	chr3:52470323-52470324	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs569037378	chr3:52470338-52470339	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs537969712	chr3:52470364-52470365	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs185946130	chr3:52470366-52470367	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs148811206	chr3:52470367-52470368	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs534223296	chr3:52470378-52470379	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs113326178	chr3:52470394-52470395	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs554491062	chr3:52470402-52470403	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs143450132	chr3:52470440-52470441	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs146450763	chr3:52470494-52470495	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52445600-52471600	Weak transcription	Gastric	stomach
2	chr3:52446400-52470200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:52447000-52470200	Weak transcription	Fetal Lung	lung
4	chr3:52448600-52471200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:52450200-52478400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:52462800-52469800	Enhancers	Placenta	Placenta
7	chr3:52462800-52473600	Enhancers	Fetal Muscle Leg	muscle
8	chr3:52463400-52470400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:52464600-52477400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:52465600-52470800	Enhancers	Fetal Heart	heart
11	chr3:52466000-52471400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:52466400-52473200	Enhancers	Spleen	Spleen
13	chr3:52467400-52477600	Weak transcription	HUVEC	blood vessel
14	chr3:52467600-52472400	Enhancers	Lung	lung
15	chr3:52468000-52470200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr3:52468000-52471600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:52468000-52472400	Weak transcription	HepG2	liver
18	chr3:52468200-52472000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr3:52468600-52470000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:52468600-52470600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:52468600-52471800	Weak transcription	Pancreas	Pancrea
22	chr3:52468600-52477600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:52468800-52470400	Weak transcription	Ovary	ovary
24	chr3:52468800-52471400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:52468800-52471400	Weak transcription	NHEK	skin
26	chr3:52468800-52471600	Weak transcription	Esophagus	oesophagus
27	chr3:52469000-52478200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:52469200-52469800	Enhancers	HSMMtube	muscle
29	chr3:52469200-52470000	Weak transcription	Right Ventricle	heart
30	chr3:52469200-52470200	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr3:52469200-52470400	Weak transcription	Colonic Mucosa	Colon
32	chr3:52469200-52471000	Weak transcription	Right Atrium	heart
33	chr3:52469200-52471400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:52469200-52471600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:52469200-52476800	Weak transcription	Left Ventricle	heart
36	chr3:52469400-52470000	Enhancers	Adipose Nuclei	Adipose
37	chr3:52469400-52470400	Weak transcription	Fetal Stomach	stomach
38	chr3:52469400-52471400	Weak transcription	HMEC	breast
39	chr3:52469600-52469800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr3:52469600-52471000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:52469600-52471200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:52469600-52475200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr3:52469800-52470200	Weak transcription	HSMMtube	muscle
44	chr3:52469800-52470800	Genic enhancers	Placenta	Placenta
45	chr3:52469800-52471800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
46	chr3:52470000-52470200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr3:52470000-52470600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:52470000-52470800	Enhancers	Right Ventricle	heart
49	chr3:52470000-52471000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:52470000-52471600	Weak transcription	Stomach Mucosa	stomach

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