Variant report

Variant	nsv460064
Chromosome Location	chr2:212045919-212101698
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:212048363..212050986-chr2:212055468..212057547,3	K562	blood:
2	chr2:212022243..212024951-chr2:212075273..212077446,2	MCF-7	breast:
3	chr2:212048363..212050986-chr2:212055897..212057547,2	K562	blood:
4	chr2:212095965..212098227-chr2:212102071..212105031,2	MCF-7	breast:
5	chr2:212055110..212056655-chr2:212069046..212071730,2	MCF-7	breast:
6	chr2:212048363..212050986-chr2:212055468..212057547,3	K562	blood:
7	chr2:212100928..212103328-chr2:212103645..212105970,2	MCF-7	breast:
8	chr2:212042472..212044097-chr2:212046243..212049125,2	K562	blood:
9	chr2:212099679..212101187-chr2:213398262..213400932,2	MCF-7	breast:
10	chr2:212096248..212099236-chr2:212103842..212106130,2	K562	blood:
11	chr2:212055110..212056655-chr2:212069046..212071730,2	MCF-7	breast:
12	chr2:212080643..212081335-chr2:212146564..212147106,2	MCF-7	breast:
13	chr2:212022878..212025223-chr2:212045457..212047124,2	K562	blood:
14	chr2:212048363..212050986-chr2:212055897..212057547,2	K562	blood:

No data

Extended variants
information (count: 761 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:761 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1866195	chr2:212045919-212045920	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79958901	chr2:212045929-212045930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146627951	chr2:212045935-212045936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140190220	chr2:212045965-212045966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149814612	chr2:212045968-212045969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577575375	chr2:212045984-212045985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546536166	chr2:212045988-212045989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562843500	chr2:212046056-212046057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531767994	chr2:212046072-212046073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556999617	chr2:212046123-212046124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562250623	chr2:212046141-212046142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527491736	chr2:212046209-212046210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547522555	chr2:212046216-212046217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570321728	chr2:212046239-212046240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182115380	chr2:212046303-212046304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62178184	chr2:212046337-212046338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535779483	chr2:212046341-212046342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187777216	chr2:212046425-212046426	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs569285352	chr2:212046426-212046427	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs192346594	chr2:212046464-212046465	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs183038233	chr2:212046492-212046493	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs58740402	chr2:212046514-212046515	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs534430544	chr2:212046539-212046540	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs113548898	chr2:212046559-212046560	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs148847785	chr2:212046593-212046594	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs143515926	chr2:212046650-212046651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556930785	chr2:212046675-212046676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147556554	chr2:212046710-212046711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188647772	chr2:212046718-212046719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561939603	chr2:212046817-212046818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527743844	chr2:212046833-212046834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141929465	chr2:212046846-212046847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34344334	chr2:212046932-212046933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1866193	chr2:212046933-212046934	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs549646854	chr2:212046946-212046947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537825230	chr2:212047004-212047005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192762531	chr2:212047065-212047066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112745105	chr2:212047080-212047081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529180724	chr2:212047110-212047111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574231512	chr2:212047114-212047115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs16845473	chr2:212047120-212047121	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs370797520	chr2:212047165-212047166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145781740	chr2:212047177-212047178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528570357	chr2:212067613-212067614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551625367	chr2:212067615-212067616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73075701	chr2:212067618-212067619	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530679456	chr2:212067626-212067627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114805590	chr2:212067645-212067646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17738493	chr2:212067654-212067655	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536180114	chr2:212067666-212067667	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212045800-212046800	Enhancers	Fetal Intestine Large	intestine
2	chr2:212045800-212047000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:212045800-212047000	Enhancers	Brain Germinal Matrix	brain
4	chr2:212045800-212047200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:212046000-212047000	Enhancers	HepG2	liver
6	chr2:212046200-212046600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:212046200-212046600	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:212046200-212046600	Enhancers	Fetal Brain Male	brain
9	chr2:212046200-212046800	Enhancers	Brain Angular Gyrus	brain
10	chr2:212046400-212046600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
11	chr2:212046400-212046600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr2:212046400-212046800	Enhancers	Brain Hippocampus Middle	brain
13	chr2:212046400-212046800	Enhancers	Brain Substantia Nigra	brain
14	chr2:212046400-212046800	Enhancers	HSMMtube	muscle
15	chr2:212046400-212047200	Enhancers	Liver	Liver
16	chr2:212067600-212069200	Enhancers	Hela-S3	cervix
17	chr2:212068600-212069400	Enhancers	HSMMtube	muscle
18	chr2:212069200-212069600	Flanking Active TSS	Hela-S3	cervix
19	chr2:212069600-212072000	Enhancers	Hela-S3	cervix
20	chr2:212078600-212079000	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr2:212090600-212090800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:212090800-212101800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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