Variant report

Variant	nsv1003694
Chromosome Location	chr2:213216431-213290523
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:213252657..213254943-chr2:213260775..213262754,2	K562	blood:
2	chr2:213223218..213224821-chr2:213227410..213229033,2	MCF-7	breast:
3	chr2:213280702..213283541-chr2:213286415..213289040,2	MCF-7	breast:
4	chr2:213223218..213224821-chr2:213227410..213229033,2	MCF-7	breast:
5	chr2:213217638..213221383-chr2:213223310..213226579,3	MCF-7	breast:
6	chr2:213217638..213221383-chr2:213223310..213226579,3	MCF-7	breast:
7	chr2:213252657..213254943-chr2:213260775..213262754,2	K562	blood:
8	chr2:213213790..213216008-chr2:213223245..213225984,2	MCF-7	breast:
9	chr2:213280702..213283541-chr2:213286415..213289040,2	MCF-7	breast:

No data

Extended variants
information (count: 2459 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2459 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10192514	chr2:213216431-213216432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570863918	chr2:213216503-213216504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187531501	chr2:213216505-213216506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77048334	chr2:213216515-213216516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570011210	chr2:213216517-213216518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1505362	chr2:213216526-213216527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570232596	chr2:213216533-213216534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536181397	chr2:213216588-213216589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565935412	chr2:213216618-213216619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534820793	chr2:213216653-213216654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557901361	chr2:213216687-213216688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577689406	chr2:213216691-213216692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543485737	chr2:213216710-213216711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548767008	chr2:213216711-213216712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556718506	chr2:213216808-213216809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573294858	chr2:213216848-213216849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6711842	chr2:213216871-213216872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs77226359	chr2:213216881-213216882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372682229	chr2:213216883-213216884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116296649	chr2:213216896-213216897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541278673	chr2:213216911-213216912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574395106	chr2:213217002-213217003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201994444	chr2:213217050-213217051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373790413	chr2:213217062-213217063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564673423	chr2:213217063-213217064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533294227	chr2:213217112-213217113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202039424	chr2:213217142-213217143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370832456	chr2:213217147-213217148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192979083	chr2:213217169-213217170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73074248	chr2:213217193-213217194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1394789	chr2:213217220-213217221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556627548	chr2:213217252-213217253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1910864	chr2:213217272-213217273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1910865	chr2:213217316-213217317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557635262	chr2:213217341-213217342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534887915	chr2:213217401-213217402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185667468	chr2:213217426-213217427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188877295	chr2:213217461-213217462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536789992	chr2:213217479-213217480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370997585	chr2:213217498-213217499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573352153	chr2:213217615-213217616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542221998	chr2:213217668-213217669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552515618	chr2:213217696-213217697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2888088	chr2:213217697-213217698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541688151	chr2:213217709-213217710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192657252	chr2:213217716-213217717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183667784	chr2:213217795-213217796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78172498	chr2:213217828-213217829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563783005	chr2:213217831-213217832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529373152	chr2:213217842-213217843	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:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213205600-213221000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:213216200-213218400	Weak transcription	Fetal Heart	heart
3	chr2:213216200-213221000	Weak transcription	Aorta	Aorta
4	chr2:213216600-213220600	Weak transcription	Fetal Kidney	kidney
5	chr2:213218400-213221800	Enhancers	Fetal Heart	heart
6	chr2:213218600-213219200	Enhancers	Psoas Muscle	Psoas
7	chr2:213218600-213219600	Enhancers	HepG2	liver
8	chr2:213219000-213221000	Enhancers	Brain Substantia Nigra	brain
9	chr2:213219200-213219400	Enhancers	Brain Angular Gyrus	brain
10	chr2:213219200-213227200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:213219200-213233600	Weak transcription	Psoas Muscle	Psoas
12	chr2:213219600-213220800	Weak transcription	Brain Angular Gyrus	brain
13	chr2:213219600-213222200	Weak transcription	HepG2	liver
14	chr2:213220000-213220200	Enhancers	Brain Anterior Caudate	brain
15	chr2:213220000-213220200	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:213220200-213220800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:213220200-213221000	Weak transcription	Brain Anterior Caudate	brain
18	chr2:213220200-213221000	Enhancers	Brain Hippocampus Middle	brain
19	chr2:213220600-213221200	Enhancers	Fetal Kidney	kidney
20	chr2:213220800-213221000	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:213220800-213221200	Enhancers	Brain Angular Gyrus	brain
22	chr2:213221000-213221200	Enhancers	Aorta	Aorta
23	chr2:213221000-213221600	Enhancers	Brain Anterior Caudate	brain
24	chr2:213221000-213222200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:213221000-213222200	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:213221000-213222200	Weak transcription	Brain Substantia Nigra	brain
27	chr2:213221000-213228600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:213221200-213221400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:213221200-213222200	Weak transcription	Aorta	Aorta
30	chr2:213221200-213222200	Weak transcription	Brain Angular Gyrus	brain
31	chr2:213221200-213223600	Weak transcription	Fetal Kidney	kidney
32	chr2:213221600-213222200	Weak transcription	Brain Anterior Caudate	brain
33	chr2:213221800-213222200	Weak transcription	Fetal Heart	heart
34	chr2:213222200-213222400	Flanking Active TSS	Aorta	Aorta
35	chr2:213222200-213222600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:213222200-213222600	Active TSS	Brain Anterior Caudate	brain
37	chr2:213222200-213222600	Active TSS	Brain Hippocampus Middle	brain
38	chr2:213222200-213222600	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr2:213222200-213222800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:213222200-213222800	Active TSS	Brain Angular Gyrus	brain
41	chr2:213222200-213222800	Active TSS	Brain Cingulate Gyrus	brain
42	chr2:213222200-213222800	Active TSS	Brain Substantia Nigra	brain
43	chr2:213222200-213222800	Active TSS	Right Atrium	heart
44	chr2:213222200-213223600	Enhancers	Fetal Heart	heart
45	chr2:213222200-213224600	Enhancers	HepG2	liver
46	chr2:213222400-213222600	Enhancers	Brain Germinal Matrix	brain
47	chr2:213222400-213222600	Enhancers	Fetal Intestine Small	intestine
48	chr2:213222400-213222800	Active TSS	Aorta	Aorta
49	chr2:213222400-213222800	Enhancers	Fetal Intestine Large	intestine
50	chr2:213222600-213222800	Flanking Active TSS	Brain Anterior Caudate	brain

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