Variant report

Variant	nsv3149
Chromosome Location	chr2:213204282-213248966
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:213202563..213204297-chr2:213206010..213208677,2	K562	blood:
2	chr2:213217638..213221383-chr2:213223310..213226579,3	MCF-7	breast:
3	chr2:213213790..213216008-chr2:213223245..213225984,2	MCF-7	breast:
4	chr2:213217638..213221383-chr2:213223310..213226579,3	MCF-7	breast:
5	chr2:213223218..213224821-chr2:213227410..213229033,2	MCF-7	breast:
6	chr2:213202563..213204297-chr2:213206010..213208677,2	K562	blood:
7	chr2:213213790..213216008-chr2:213223245..213225984,2	MCF-7	breast:
8	chr2:213223218..213224821-chr2:213227410..213229033,2	MCF-7	breast:

No data

Extended variants
information (count: 1702 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1702 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189957516	chr2:213204292-213204293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79064701	chr2:213204323-213204324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528010449	chr2:213204346-213204347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192871427	chr2:213204365-213204366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371078415	chr2:213204402-213204403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570744537	chr2:213204461-213204462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73074230	chr2:213204514-213204515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs556283420	chr2:213204563-213204564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569814252	chr2:213204568-213204569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6753945	chr2:213204574-213204575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115779418	chr2:213204589-213204590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572330389	chr2:213204594-213204595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185343298	chr2:213204639-213204640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370301541	chr2:213204640-213204641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577959472	chr2:213204646-213204647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543647541	chr2:213204718-213204719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11381212	chr2:213204771-213204772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111866617	chr2:213204772-213204773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs398061026	chr2:213204783-213204784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77586631	chr2:213204784-213204785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75934310	chr2:213204786-213204787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75988911	chr2:213204787-213204788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563432299	chr2:213204802-213204803	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190269285	chr2:213204813-213204814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1505354	chr2:213204814-213204815	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs559327480	chr2:213204854-213204855	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528059463	chr2:213204864-213204865	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34343027	chr2:213204868-213204869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548109101	chr2:213204910-213204911	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144421765	chr2:213204934-213204935	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4672645	chr2:213204955-213204956	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs35384625	chr2:213204957-213204958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1505355	chr2:213204980-213204981	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181936344	chr2:213204982-213204983	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1505356	chr2:213205001-213205002	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555566505	chr2:213205007-213205008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185154070	chr2:213205026-213205027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534707706	chr2:213205027-213205028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145542153	chr2:213205028-213205029	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4673661	chr2:213205047-213205048	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs551541176	chr2:213205066-213205067	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565162825	chr2:213205085-213205086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35659360	chr2:213205100-213205101	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115347617	chr2:213205148-213205149	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114518248	chr2:213205226-213205227	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573732161	chr2:213205227-213205228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111811536	chr2:213205228-213205229	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559174070	chr2:213205242-213205243	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188252496	chr2:213205268-213205269	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544604544	chr2:213205276-213205277	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213201800-213213000	Weak transcription	Aorta	Aorta
2	chr2:213202400-213204400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:213202600-213204800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:213203200-213208000	Weak transcription	Fetal Heart	heart
5	chr2:213204400-213204600	Enhancers	Brain Angular Gyrus	brain
6	chr2:213204800-213205600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:213205200-213205400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:213205600-213221000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:213208000-213210800	Enhancers	Fetal Heart	heart
10	chr2:213209000-213209200	Enhancers	Adipose Nuclei	Adipose
11	chr2:213210800-213211200	Weak transcription	Fetal Heart	heart
12	chr2:213211000-213211600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:213211200-213216200	Enhancers	Fetal Heart	heart
14	chr2:213212800-213213200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:213213000-213213400	Active TSS	Aorta	Aorta
16	chr2:213213200-213214800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:213213400-213213600	Flanking Active TSS	Aorta	Aorta
18	chr2:213213600-213215600	Weak transcription	Aorta	Aorta
19	chr2:213214800-213215000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:213215600-213216200	Enhancers	Aorta	Aorta
21	chr2:213216200-213218400	Weak transcription	Fetal Heart	heart
22	chr2:213216200-213221000	Weak transcription	Aorta	Aorta
23	chr2:213216600-213220600	Weak transcription	Fetal Kidney	kidney
24	chr2:213218400-213221800	Enhancers	Fetal Heart	heart
25	chr2:213218600-213219200	Enhancers	Psoas Muscle	Psoas
26	chr2:213218600-213219600	Enhancers	HepG2	liver
27	chr2:213219000-213221000	Enhancers	Brain Substantia Nigra	brain
28	chr2:213219200-213219400	Enhancers	Brain Angular Gyrus	brain
29	chr2:213219200-213227200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:213219200-213233600	Weak transcription	Psoas Muscle	Psoas
31	chr2:213219600-213220800	Weak transcription	Brain Angular Gyrus	brain
32	chr2:213219600-213222200	Weak transcription	HepG2	liver
33	chr2:213220000-213220200	Enhancers	Brain Anterior Caudate	brain
34	chr2:213220000-213220200	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:213220200-213220800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:213220200-213221000	Weak transcription	Brain Anterior Caudate	brain
37	chr2:213220200-213221000	Enhancers	Brain Hippocampus Middle	brain
38	chr2:213220600-213221200	Enhancers	Fetal Kidney	kidney
39	chr2:213220800-213221000	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:213220800-213221200	Enhancers	Brain Angular Gyrus	brain
41	chr2:213221000-213221200	Enhancers	Aorta	Aorta
42	chr2:213221000-213221600	Enhancers	Brain Anterior Caudate	brain
43	chr2:213221000-213222200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:213221000-213222200	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:213221000-213222200	Weak transcription	Brain Substantia Nigra	brain
46	chr2:213221000-213228600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:213221200-213221400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr2:213221200-213222200	Weak transcription	Aorta	Aorta
49	chr2:213221200-213222200	Weak transcription	Brain Angular Gyrus	brain
50	chr2:213221200-213223600	Weak transcription	Fetal Kidney	kidney

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