Variant report

Variant	nsv584353
Chromosome Location	chr2:213136747-213191389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:
2	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:
3	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:
4	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:
5	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:
6	chr2:213165115..213165752-chr21:42883583..42884373,2	MCF-7	breast:
7	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:

Extended variants
information (count: 2113 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2113 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2135161	chr2:213136747-213136748	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372814136	chr2:213136804-213136805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369326464	chr2:213136853-213136854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562716026	chr2:213136891-213136892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4673656	chr2:213136903-213136904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73986916	chr2:213136916-213136917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541976905	chr2:213136941-213136942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141828172	chr2:213137032-213137033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115288007	chr2:213137058-213137059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143720736	chr2:213137066-213137067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547391824	chr2:213137126-213137127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs931817	chr2:213137150-213137151	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs74325701	chr2:213137172-213137173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528152697	chr2:213137275-213137276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114825520	chr2:213137310-213137311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372007289	chr2:213137331-213137332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569134931	chr2:213137336-213137337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538033409	chr2:213137375-213137376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12468998	chr2:213137393-213137394	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568560006	chr2:213137396-213137397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73986918	chr2:213137471-213137472	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147092120	chr2:213137477-213137478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576333646	chr2:213137479-213137480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577298302	chr2:213137503-213137504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539792806	chr2:213137542-213137543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556477383	chr2:213137561-213137562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576342469	chr2:213137573-213137574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535860568	chr2:213137592-213137593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184426185	chr2:213137593-213137594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555539911	chr2:213137599-213137600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17346476	chr2:213137613-213137614	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541586110	chr2:213137651-213137652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs80045787	chr2:213137701-213137702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532111567	chr2:213137714-213137715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138444654	chr2:213137743-213137744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559482990	chr2:213137806-213137807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111267882	chr2:213137855-213137856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs16848142	chr2:213137862-213137863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532744896	chr2:213137868-213137869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369583584	chr2:213137917-213137918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367942479	chr2:213137919-213137920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372860175	chr2:213138000-213138001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546121127	chr2:213138031-213138032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562858251	chr2:213138042-213138043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189078057	chr2:213138133-213138134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548764154	chr2:213138177-213138178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568518275	chr2:213138179-213138180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527824898	chr2:213138275-213138276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113218827	chr2:213138287-213138288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563986528	chr2:213138330-213138331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213129200-213141000	Weak transcription	Brain Anterior Caudate	brain
2	chr2:213134200-213145200	Weak transcription	Aorta	Aorta
3	chr2:213134400-213147400	Weak transcription	Brain Substantia Nigra	brain
4	chr2:213135400-213139200	Enhancers	Fetal Heart	heart
5	chr2:213136400-213137400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:213136600-213147400	Weak transcription	Psoas Muscle	Psoas
7	chr2:213139000-213139200	Enhancers	Brain Hippocampus Middle	brain
8	chr2:213139200-213145400	Weak transcription	Fetal Heart	heart
9	chr2:213139200-213146200	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:213141000-213141200	Enhancers	Brain Anterior Caudate	brain
11	chr2:213141000-213141400	Enhancers	Fetal Kidney	kidney
12	chr2:213141200-213141600	Weak transcription	Brain Anterior Caudate	brain
13	chr2:213141200-213142000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:213141600-213141800	Enhancers	Brain Anterior Caudate	brain
15	chr2:213141800-213147400	Weak transcription	Brain Anterior Caudate	brain
16	chr2:213142000-213147200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:213145200-213145600	Enhancers	Aorta	Aorta
18	chr2:213145400-213145600	Enhancers	Fetal Heart	heart
19	chr2:213145600-213146000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:213145600-213146000	Weak transcription	Fetal Heart	heart
21	chr2:213145600-213146800	Weak transcription	Aorta	Aorta
22	chr2:213146000-213149400	Enhancers	Fetal Heart	heart
23	chr2:213146200-213150200	Enhancers	Brain Hippocampus Middle	brain
24	chr2:213146400-213146800	Enhancers	Brain Angular Gyrus	brain
25	chr2:213146800-213147200	Active TSS	Aorta	Aorta
26	chr2:213146800-213148400	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:213146800-213149000	Weak transcription	Brain Angular Gyrus	brain
28	chr2:213146800-213149600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:213147200-213147800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:213147200-213148000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:213147200-213148200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:213147200-213149000	Weak transcription	Aorta	Aorta
33	chr2:213147400-213147800	Enhancers	Brain Substantia Nigra	brain
34	chr2:213147400-213148000	Enhancers	Psoas Muscle	Psoas
35	chr2:213147400-213148400	Enhancers	Brain Anterior Caudate	brain
36	chr2:213147600-213148000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr2:213147800-213148200	Enhancers	Brain Germinal Matrix	brain
38	chr2:213147800-213148200	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr2:213147800-213148800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:213148000-213148200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:213148000-213149000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:213148000-213149000	Weak transcription	Psoas Muscle	Psoas
43	chr2:213148000-213155000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:213148200-213150000	Enhancers	Brain Substantia Nigra	brain
45	chr2:213148400-213149000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:213148400-213149200	Weak transcription	Brain Anterior Caudate	brain
47	chr2:213148600-213149000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr2:213148600-213150000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:213148800-213149000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:213148800-213149200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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