Variant report

Variant	nsv584310
Chromosome Location	chr2:211807729-211870954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:211863806..211866464-chr2:211874254..211876730,2	MCF-7	breast:
2	chr2:211826156..211830730-chr2:211835135..211838762,5	MCF-7	breast:
3	chr2:211826156..211830730-chr2:211835135..211838762,5	MCF-7	breast:

Extended variants
information (count: 1270 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1270 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534018187	chr2:211811471-211811472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370112618	chr2:211811519-211811520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548306969	chr2:211811570-211811571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570773900	chr2:211811608-211811609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539412707	chr2:211811649-211811650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565745172	chr2:211811673-211811674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556198386	chr2:211811704-211811705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189721807	chr2:211811725-211811726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541552815	chr2:211811776-211811777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115338772	chr2:211811799-211811800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574916730	chr2:211811820-211811821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540859520	chr2:211811823-211811824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560383900	chr2:211811941-211811942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183929458	chr2:211811943-211811944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532666606	chr2:211811946-211811947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577176427	chr2:211812016-211812017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545749961	chr2:211812027-211812028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562531715	chr2:211812049-211812050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189037338	chr2:211812059-211812060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34452736	chr2:211812060-211812061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114056272	chr2:211812235-211812236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192979722	chr2:211812272-211812273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545840599	chr2:211812326-211812327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527459503	chr2:211812340-211812341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141704673	chr2:211812343-211812344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143771345	chr2:211812441-211812442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539755788	chr2:211812449-211812450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11687884	chr2:211812489-211812490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569550092	chr2:211812551-211812552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535462292	chr2:211812558-211812559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183590753	chr2:211812578-211812579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187101461	chr2:211812604-211812605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191771296	chr2:211812626-211812627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183856291	chr2:211812638-211812639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573035816	chr2:211812678-211812679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540378346	chr2:211812686-211812687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553951674	chr2:211812702-211812703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148873487	chr2:211812720-211812721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146655521	chr2:211812731-211812732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577062341	chr2:211812749-211812750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546082373	chr2:211812765-211812766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563222878	chr2:211812781-211812782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377634043	chr2:211812788-211812789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188186616	chr2:211812833-211812834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368666927	chr2:211812835-211812836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562012192	chr2:211812836-211812837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527790158	chr2:211812843-211812844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111532442	chr2:211812916-211812917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192533974	chr2:211812919-211812920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533210771	chr2:211812931-211812932	Enhancers	n/a	n/a	Overlapped CNVs	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
Acute lymphoblastic leukemia	22237106	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211811400-211813200	Enhancers	Brain Germinal Matrix	brain
2	chr2:211812800-211813200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:211813200-211818000	Weak transcription	Brain Germinal Matrix	brain
4	chr2:211818000-211819600	Enhancers	Brain Germinal Matrix	brain
5	chr2:211818200-211818600	Enhancers	Fetal Lung	lung
6	chr2:211819200-211820200	Enhancers	NH-A	brain
7	chr2:211819200-211820400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:211819400-211821200	Enhancers	Hela-S3	cervix
9	chr2:211819800-211821200	Enhancers	HUVEC	blood vessel
10	chr2:211820000-211820400	Enhancers	HepG2	liver
11	chr2:211820000-211821200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:211820200-211820600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:211820200-211820600	Enhancers	HMEC	breast
14	chr2:211820200-211820600	Flanking Active TSS	NH-A	brain
15	chr2:211820400-211822800	Weak transcription	HepG2	liver
16	chr2:211820600-211821000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:211820600-211821200	Enhancers	NH-A	brain
18	chr2:211821000-211821200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:211821200-211826000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:211822800-211823200	Enhancers	HepG2	liver
21	chr2:211823200-211824600	Weak transcription	HepG2	liver
22	chr2:211824600-211828400	Enhancers	HepG2	liver
23	chr2:211826000-211826200	Enhancers	HMEC	breast
24	chr2:211826000-211826600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:211826600-211828800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:211826800-211829800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:211828400-211828800	Flanking Active TSS	HepG2	liver
28	chr2:211828800-211829400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:211828800-211830400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:211828800-211830400	Enhancers	HMEC	breast
31	chr2:211828800-211832400	Enhancers	HepG2	liver
32	chr2:211829800-211830200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:211834400-211834800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:211834800-211836000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:211836000-211836800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:211836200-211836400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:211836200-211836800	Enhancers	HUVEC	blood vessel
38	chr2:211852000-211852200	Bivalent Enhancer	HepG2	liver
39	chr2:211855600-211857400	Enhancers	HUVEC	blood vessel
40	chr2:211857400-211861000	Weak transcription	HUVEC	blood vessel
41	chr2:211861000-211863000	Enhancers	HUVEC	blood vessel
42	chr2:211862000-211862600	Enhancers	Hela-S3	cervix
43	chr2:211863800-211864200	Enhancers	Brain Substantia Nigra	brain
44	chr2:211863800-211865200	Enhancers	Brain Hippocampus Middle	brain

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