Variant report

Variant	nsv875775
Chromosome Location	chr2:212021755-212047120
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:212022878..212025223-chr2:212045457..212047124,2	K562	blood:
2	chr2:211949726..211950394-chr2:212022355..212023014,3	MCF-7	breast:
3	chr2:211949706..211950500-chr2:212022258..212023250,2	MCF-7	breast:
4	chr2:211951231..211952004-chr2:212022300..212022853,2	MCF-7	breast:
5	chr2:211958444..211959027-chr2:212022593..212023191,2	MCF-7	breast:
6	chr2:212042472..212044097-chr2:212046243..212049125,2	K562	blood:
7	chr2:212022878..212025223-chr2:212045457..212047124,2	K562	blood:
8	chr2:212042472..212044097-chr2:212046243..212049125,2	K562	blood:
9	chr2:212022243..212024951-chr2:212075273..212077446,2	MCF-7	breast:
10	chr2:211482310..211483112-chr2:212022669..212023186,2	MCF-7	breast:

No data

Extended variants
information (count: 642 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:642 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6435604	chr2:212021755-212021756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549475390	chr2:212021759-212021760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541425150	chr2:212021786-212021787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569063549	chr2:212021792-212021793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116895229	chr2:212021796-212021797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140603200	chr2:212021841-212021842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374785422	chr2:212021863-212021864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533922706	chr2:212021886-212021887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554188501	chr2:212021898-212021899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577259733	chr2:212021909-212021910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546280540	chr2:212021922-212021923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186210420	chr2:212021924-212021925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57148045	chr2:212021933-212021934	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78248067	chr2:212021980-212021981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561819789	chr2:212021994-212021995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11683081	chr2:212022000-212022001	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540659147	chr2:212022004-212022005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367765626	chr2:212022058-212022059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564069108	chr2:212022080-212022081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532767829	chr2:212022094-212022095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143727471	chr2:212022108-212022109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569426083	chr2:212022117-212022118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148080577	chr2:212022140-212022141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs16845417	chr2:212022142-212022143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs568660046	chr2:212022163-212022164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112369412	chr2:212022168-212022169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6727515	chr2:212022176-212022177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116728146	chr2:212022222-212022223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539864818	chr2:212022238-212022239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556660993	chr2:212022386-212022387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576644264	chr2:212022439-212022440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113872838	chr2:212022486-212022487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190585281	chr2:212022548-212022549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182921797	chr2:212022554-212022555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187253558	chr2:212022612-212022613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150619557	chr2:212022671-212022672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1982180	chr2:212022731-212022732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532730678	chr2:212022732-212022733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557735795	chr2:212022751-212022752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529572722	chr2:212022795-212022796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543046277	chr2:212022799-212022800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114535547	chr2:212022807-212022808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529004619	chr2:212022840-212022841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569202747	chr2:212022848-212022849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139308553	chr2:212022868-212022869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568602691	chr2:212022875-212022876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115741628	chr2:212022883-212022884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574494754	chr2:212022926-212022927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373394991	chr2:212022945-212022946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2164839	chr2:212022959-212022960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212020000-212021800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:212021800-212022600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:212021800-212022600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:212021800-212022800	Enhancers	Osteobl	bone
5	chr2:212022000-212022800	Enhancers	HSMM	muscle
6	chr2:212022600-212026000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:212022800-212025800	Weak transcription	HSMM	muscle
8	chr2:212022800-212026000	Weak transcription	Osteobl	bone
9	chr2:212025800-212026200	Enhancers	HSMM	muscle
10	chr2:212025800-212026400	Enhancers	Hela-S3	cervix
11	chr2:212026000-212026200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:212026000-212026400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:212026000-212026400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:212026000-212026400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:212026000-212026400	Active TSS	Osteobl	bone
16	chr2:212026200-212026400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:212026400-212027600	Weak transcription	Hela-S3	cervix
18	chr2:212027600-212028000	Enhancers	Hela-S3	cervix
19	chr2:212028000-212028200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:212037600-212039000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:212037800-212039000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:212039000-212045800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:212045800-212046800	Enhancers	Fetal Intestine Large	intestine
24	chr2:212045800-212047000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:212045800-212047000	Enhancers	Brain Germinal Matrix	brain
26	chr2:212045800-212047200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:212046000-212047000	Enhancers	HepG2	liver
28	chr2:212046200-212046600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:212046200-212046600	Enhancers	Brain Cingulate Gyrus	brain
30	chr2:212046200-212046600	Enhancers	Fetal Brain Male	brain
31	chr2:212046200-212046800	Enhancers	Brain Angular Gyrus	brain
32	chr2:212046400-212046600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
33	chr2:212046400-212046600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr2:212046400-212046800	Enhancers	Brain Hippocampus Middle	brain
35	chr2:212046400-212046800	Enhancers	Brain Substantia Nigra	brain
36	chr2:212046400-212046800	Enhancers	HSMMtube	muscle
37	chr2:212046400-212047200	Enhancers	Liver	Liver

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