Variant report

Variant	nsv10334
Chromosome Location	chr3:143217154-143221569
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	chr3:143212932..143214521-chr3:143217945..143220851,2	MCF-7	breast:
2	chr3:143187283..143189159-chr3:143216488..143218723,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 55 )

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	rs571416438	chr3:143217184-143217185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145304901	chr3:143217223-143217224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115899838	chr3:143217292-143217293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532522037	chr3:143217326-143217327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181055336	chr3:143217331-143217332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549535727	chr3:143217332-143217333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567829084	chr3:143217344-143217345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528697754	chr3:143217350-143217351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2010617	chr3:143217358-143217359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs708485	chr3:143217359-143217360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539363591	chr3:143217429-143217430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36038450	chr3:143217460-143217461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371545196	chr3:143217463-143217464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556661232	chr3:143217492-143217493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201830375	chr3:143217522-143217523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372624402	chr3:143217545-143217546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149796120	chr3:143217588-143217589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185951750	chr3:143217606-143217607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145786283	chr3:143217630-143217631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114330362	chr3:143217635-143217636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114566910	chr3:143217671-143217672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558759365	chr3:143217687-143217688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189543536	chr3:143217745-143217746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140612655	chr3:143217794-143217795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563519122	chr3:143217802-143217803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1001478	chr3:143217819-143217820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552987863	chr3:143217882-143217883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543118676	chr3:143217896-143217897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574362365	chr3:143217897-143217898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145756040	chr3:143217916-143217917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376390398	chr3:143217963-143217964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370943706	chr3:143217964-143217965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547210106	chr3:143218003-143218004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571837370	chr3:143218090-143218091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371628831	chr3:143218120-143218121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532678909	chr3:143218201-143218202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182565716	chr3:143218222-143218223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577835428	chr3:143218263-143218264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78856723	chr3:143218268-143218269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113796657	chr3:143218419-143218420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574336666	chr3:143218424-143218425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554204373	chr3:143218509-143218510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185339588	chr3:143218528-143218529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370429867	chr3:143218708-143218709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73008898	chr3:143218717-143218718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs530627937	chr3:143218721-143218722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145179183	chr3:143218730-143218731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577004233	chr3:143218731-143218732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537718539	chr3:143218736-143218737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147978162	chr3:143218758-143218759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143174400-143220400	Weak transcription	Fetal Lung	lung
2	chr3:143176800-143220400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:143179400-143220400	Weak transcription	Brain Substantia Nigra	brain
4	chr3:143186000-143223000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr3:143191400-143231000	Weak transcription	Primary B cells from cord blood	blood
6	chr3:143201800-143226400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:143209000-143226800	Weak transcription	Adipose Nuclei	Adipose
8	chr3:143212600-143224800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr3:143212600-143247400	Weak transcription	Primary T cells from cord blood	blood
10	chr3:143215600-143226800	Weak transcription	Fetal Stomach	stomach
11	chr3:143219800-143222200	Weak transcription	Esophagus	oesophagus
12	chr3:143220200-143220800	Enhancers	Brain Angular Gyrus	brain
13	chr3:143220200-143220800	Enhancers	Brain Germinal Matrix	brain
14	chr3:143220200-143221200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:143220200-143221200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:143220200-143221200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:143220200-143221200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:143220400-143220800	Enhancers	Brain Cingulate Gyrus	brain
19	chr3:143220400-143220800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr3:143220400-143221000	Enhancers	Brain Substantia Nigra	brain
21	chr3:143220400-143221200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:143220400-143221200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr3:143220400-143221200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:143220400-143221200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:143220400-143221200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:143220400-143221200	Enhancers	Brain Hippocampus Middle	brain
27	chr3:143220400-143221400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:143220400-143221800	Enhancers	Fetal Lung	lung
29	chr3:143220400-143226400	Weak transcription	HSMMtube	muscle
30	chr3:143220600-143220800	Enhancers	Brain Anterior Caudate	brain
31	chr3:143220600-143221200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr3:143220600-143221200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:143220800-143221200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:143220800-143221200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr3:143220800-143226600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:143221000-143222400	Weak transcription	Spleen	Spleen
37	chr3:143221000-143227200	Weak transcription	Brain Substantia Nigra	brain
38	chr3:143221200-143224000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:143221200-143226800	Weak transcription	Brain Hippocampus Middle	brain
40	chr3:143221200-143228200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:143221400-143223800	Weak transcription	Fetal Muscle Leg	muscle
42	chr3:143221400-143224600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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