Variant report

Variant	nsv584347
Chromosome Location	chr2:213114645-213151230
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:
2	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:
3	chr2:213108853..213110992-chr2:213114605..213117467,2	MCF-7	breast:
4	chr2:213110335..213112278-chr2:213114371..213115906,2	MCF-7	breast:
5	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:
6	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:
7	chr2:212824327..212826321-chr2:213119385..213121248,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178568	chromatin interactions

Extended variants
information (count: 1406 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10497968	chr2:213114645-213114646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs16848085	chr2:213114694-213114695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs561624232	chr2:213114717-213114718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550474018	chr2:213114721-213114722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557406027	chr2:213114732-213114733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573950039	chr2:213114818-213114819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16848087	chr2:213114860-213114861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531291900	chr2:213114873-213114874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550621505	chr2:213114893-213114894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553188360	chr2:213115079-213115080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141754397	chr2:213115146-213115147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368799521	chr2:213115148-213115149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548211423	chr2:213115177-213115178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572991900	chr2:213115179-213115180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544798590	chr2:213115216-213115217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564674485	chr2:213115237-213115238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530537970	chr2:213115238-213115239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1949655	chr2:213115297-213115298	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs149916064	chr2:213115379-213115380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529651523	chr2:213115394-213115395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533918275	chr2:213115430-213115431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529075506	chr2:213115469-213115470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568096398	chr2:213115520-213115521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200400420	chr2:213115527-213115528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566361099	chr2:213115601-213115602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111386459	chr2:213115656-213115657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74770307	chr2:213115663-213115664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1983403	chr2:213115677-213115678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149021551	chr2:213115705-213115706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10497969	chr2:213115743-213115744	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537564188	chr2:213115760-213115761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553868378	chr2:213115772-213115773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551047935	chr2:213115776-213115777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567558514	chr2:213115836-213115837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs16848093	chr2:213115840-213115841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553037678	chr2:213115845-213115846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78071944	chr2:213115846-213115847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187674227	chr2:213115878-213115879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547352636	chr2:213115935-213115936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs16848095	chr2:213115952-213115953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567679137	chr2:213115995-213115996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143034178	chr2:213116005-213116006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs80019179	chr2:213116007-213116008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561028967	chr2:213116023-213116024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556007835	chr2:213116026-213116027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574396791	chr2:213116033-213116034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7587246	chr2:213116085-213116086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs138897101	chr2:213116136-213116137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372876840	chr2:213116144-213116145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13426487	chr2:213116181-213116182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213107800-213134000	Weak transcription	Aorta	Aorta
2	chr2:213113800-213114800	Enhancers	Brain Substantia Nigra	brain
3	chr2:213114200-213116600	Weak transcription	Fetal Heart	heart
4	chr2:213114400-213115200	Enhancers	Brain Angular Gyrus	brain
5	chr2:213114600-213130400	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:213114800-213115000	Weak transcription	Brain Substantia Nigra	brain
7	chr2:213115000-213115400	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:213115000-213115400	Enhancers	Brain Substantia Nigra	brain
9	chr2:213115200-213115800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:213115200-213119000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:213115400-213121800	Weak transcription	Brain Substantia Nigra	brain
12	chr2:213115400-213134000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:213116200-213117400	Enhancers	Fetal Kidney	kidney
14	chr2:213116600-213117400	Enhancers	Fetal Heart	heart
15	chr2:213117400-213117600	Weak transcription	Fetal Kidney	kidney
16	chr2:213117600-213118800	Enhancers	Fetal Kidney	kidney
17	chr2:213119000-213119400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:213119000-213119400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:213119000-213119400	Enhancers	Brain Angular Gyrus	brain
20	chr2:213119400-213122400	Weak transcription	Brain Angular Gyrus	brain
21	chr2:213121800-213122800	Enhancers	Brain Substantia Nigra	brain
22	chr2:213122400-213122600	Enhancers	Brain Angular Gyrus	brain
23	chr2:213122400-213122800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:213122800-213131200	Weak transcription	Brain Substantia Nigra	brain
25	chr2:213127400-213127600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:213127600-213128000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:213128000-213130800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:213128600-213128800	Enhancers	Brain Anterior Caudate	brain
29	chr2:213128600-213129400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:213128800-213129200	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr2:213128800-213129200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:213128800-213129800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:213128800-213130800	Enhancers	Brain Germinal Matrix	brain
34	chr2:213129000-213129200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:213129000-213129800	Enhancers	Psoas Muscle	Psoas
36	chr2:213129200-213141000	Weak transcription	Brain Anterior Caudate	brain
37	chr2:213129400-213130800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:213129400-213131000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:213129600-213130000	Weak transcription	Brain Angular Gyrus	brain
40	chr2:213129600-213133000	Enhancers	Fetal Heart	heart
41	chr2:213129800-213135400	Weak transcription	Psoas Muscle	Psoas
42	chr2:213130400-213130800	Active TSS	Brain Hippocampus Middle	brain
43	chr2:213130800-213131600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:213131000-213131200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:213131000-213131200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:213131000-213131600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:213131200-213132000	Enhancers	Brain Substantia Nigra	brain
48	chr2:213131200-213133400	Weak transcription	Brain Angular Gyrus	brain
49	chr2:213131600-213133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:213132000-213134000	Weak transcription	Brain Substantia Nigra	brain

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