Variant report

Variant	nsv967252
Chromosome Location	chr3:51411328-51415054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:51406871..51409726-chr3:51410883..51412893,2	K562	blood:
2	chr3:51412700..51415238-chr3:51421293..51423152,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145050	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187276260	chr3:51411368-51411369	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142205750	chr3:51411426-51411427	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190973183	chr3:51411436-51411437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146116003	chr3:51411441-51411442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369706784	chr3:51411549-51411550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59563413	chr3:51411581-51411582	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551958555	chr3:51411582-51411583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570543634	chr3:51411675-51411676	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545559461	chr3:51411772-51411773	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534456917	chr3:51411786-51411787	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3828395	chr3:51411797-51411798	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs370356522	chr3:51411806-51411807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574143747	chr3:51411841-51411842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376124727	chr3:51411853-51411854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554850331	chr3:51411873-51411874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182091387	chr3:51411907-51411908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544013677	chr3:51411917-51411918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374668386	chr3:51411926-51411927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368729460	chr3:51411935-51411936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548892600	chr3:51411945-51411946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372395657	chr3:51412013-51412014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375648307	chr3:51412031-51412032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558745668	chr3:51412128-51412129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577252536	chr3:51412140-51412141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138969185	chr3:51412200-51412201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559779007	chr3:51412205-51412206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6777506	chr3:51412226-51412227	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542099423	chr3:51412268-51412269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563597846	chr3:51412281-51412282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143445998	chr3:51412297-51412298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185115040	chr3:51412301-51412302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs118033104	chr3:51412368-51412369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570584864	chr3:51412376-51412377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189911840	chr3:51412394-51412395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372989632	chr3:51412396-51412397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552715367	chr3:51412474-51412475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570823341	chr3:51412541-51412542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182507769	chr3:51412591-51412592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567674686	chr3:51412597-51412598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538029284	chr3:51412691-51412692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535082658	chr3:51412788-51412789	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs74974237	chr3:51412822-51412823	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73837441	chr3:51412858-51412859	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs537378115	chr3:51412871-51412872	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559084122	chr3:51412947-51412948	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577410708	chr3:51412972-51412973	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541505132	chr3:51413077-51413078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147999403	chr3:51413078-51413079	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574857224	chr3:51413115-51413116	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542260522	chr3:51413124-51413125	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Pancreatic endocrine tumor	17639061	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51378600-51421000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:51378800-51421400	Weak transcription	Right Ventricle	heart
3	chr3:51379000-51414600	Weak transcription	Left Ventricle	heart
4	chr3:51384200-51420600	Weak transcription	Fetal Brain Male	brain
5	chr3:51392800-51418600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:51400600-51411400	Weak transcription	Brain Anterior Caudate	brain
7	chr3:51400800-51411400	Weak transcription	Brain Substantia Nigra	brain
8	chr3:51400800-51411400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:51400800-51412200	Weak transcription	HSMMtube	muscle
10	chr3:51401000-51411800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:51406000-51411600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:51406000-51417000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:51406000-51420200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:51406000-51420400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:51406000-51420400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:51406000-51420600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:51406000-51420800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:51406000-51420800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr3:51406000-51421400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:51406400-51411800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:51406400-51420600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:51406400-51421600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:51410000-51421400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:51410400-51417800	Strong transcription	Brain Germinal Matrix	brain
25	chr3:51410400-51420600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:51410600-51411800	Enhancers	Liver	Liver
27	chr3:51410600-51419200	Weak transcription	Fetal Stomach	stomach
28	chr3:51410800-51414600	Strong transcription	Brain Hippocampus Middle	brain
29	chr3:51410800-51415200	Strong transcription	Brain Angular Gyrus	brain
30	chr3:51410800-51416000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:51411000-51420000	Strong transcription	Brain Cingulate Gyrus	brain
32	chr3:51411000-51420000	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr3:51411200-51411400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:51411200-51411400	Enhancers	Fetal Muscle Trunk	muscle
35	chr3:51411200-51416400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:51411200-51420000	Strong transcription	Fetal Brain Female	brain
37	chr3:51411400-51413000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr3:51411400-51415000	Strong transcription	Brain Substantia Nigra	brain
39	chr3:51411400-51415400	Strong transcription	Brain Anterior Caudate	brain
40	chr3:51411600-51414800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:51411800-51412400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:51411800-51414400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr3:51412200-51414800	Strong transcription	HSMMtube	muscle
44	chr3:51412400-51420600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:51413000-51413800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:51413200-51415800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:51413800-51419800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr3:51414000-51414200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:51414000-51416200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr3:51414200-51414400	Weak transcription	Spleen	Spleen

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