Variant report

Variant	nsv584311
Chromosome Location	chr2:211981894-211996803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:211979527..211981470-chr2:211988454..211991128,2	MCF-7	breast:
2	chr2:211989762..211992437-chr2:211995215..211997517,2	MCF-7	breast:
3	chr2:211989762..211992437-chr2:211995215..211997517,2	MCF-7	breast:

Extended variants
information (count: 666 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:666 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11903360	chr2:211981894-211981895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529057801	chr2:211981915-211981916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538471077	chr2:211981931-211981932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115411978	chr2:211981940-211981941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181813243	chr2:211982038-211982039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149975391	chr2:211982042-211982043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10208692	chr2:211982126-211982127	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs76625420	chr2:211982151-211982152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545889318	chr2:211982161-211982162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10197796	chr2:211982162-211982163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs116789046	chr2:211982181-211982182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569762567	chr2:211982211-211982212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116065607	chr2:211982246-211982247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538183541	chr2:211982256-211982257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs55774702	chr2:211982274-211982275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557641658	chr2:211982290-211982291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533006937	chr2:211982365-211982366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148787079	chr2:211982386-211982387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556408248	chr2:211982392-211982393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186782525	chr2:211982394-211982395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142460046	chr2:211982408-211982409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191224387	chr2:211982417-211982418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374338899	chr2:211982422-211982423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538779573	chr2:211982437-211982438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147929792	chr2:211982454-211982455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183237794	chr2:211982465-211982466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570490521	chr2:211982472-211982473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140128545	chr2:211982490-211982491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145115626	chr2:211982499-211982500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576098131	chr2:211982524-211982525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541963164	chr2:211982556-211982557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371236512	chr2:211982580-211982581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367565417	chr2:211982588-211982589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186752289	chr2:211982608-211982609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572189121	chr2:211982609-211982610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28494683	chr2:211982619-211982620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574693070	chr2:211982628-211982629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147596277	chr2:211982629-211982630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142088326	chr2:211982646-211982647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543410067	chr2:211982664-211982665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114753223	chr2:211982678-211982679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4672605	chr2:211982760-211982761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189651742	chr2:211982780-211982781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7589906	chr2:211982807-211982808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572546280	chr2:211982819-211982820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150077118	chr2:211982826-211982827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145462428	chr2:211982835-211982836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554025375	chr2:211982869-211982870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114775473	chr2:211982888-211982889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545959774	chr2:211982963-211982964	Weak transcription	n/a	n/a	Overlapped CNVs	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211980800-211989000	Weak transcription	Brain Germinal Matrix	brain
2	chr2:211982000-211982600	Enhancers	Hela-S3	cervix
3	chr2:211987600-211987800	Enhancers	Fetal Brain Male	brain
4	chr2:211987800-211989600	Weak transcription	Fetal Brain Male	brain
5	chr2:211989000-211991600	Enhancers	Brain Germinal Matrix	brain
6	chr2:211989600-211991000	Enhancers	Fetal Brain Male	brain
7	chr2:211991000-211991800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:211991000-211991800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:211991000-211991800	Enhancers	Fetal Intestine Small	intestine
10	chr2:211991800-211993200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:211991800-211994600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:211992200-211992400	Enhancers	Hela-S3	cervix
13	chr2:211992400-211993000	Weak transcription	Hela-S3	cervix
14	chr2:211993000-211993400	Enhancers	NHEK	skin
15	chr2:211993000-211994200	Enhancers	Hela-S3	cervix
16	chr2:211993200-211993400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:211993200-211993400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:211993200-211993600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:211993200-211993600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:211993200-211993600	Enhancers	HMEC	breast
21	chr2:211993200-211993800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:211993400-211997000	Weak transcription	NHEK	skin
23	chr2:211993600-211994800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:211993600-211994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:211993600-211994800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:211993600-211996800	Weak transcription	HMEC	breast
27	chr2:211993600-211997400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:211993800-211994200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:211994200-211994600	Weak transcription	Hela-S3	cervix
30	chr2:211994200-211995400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:211994600-211996400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:211994600-211998800	Enhancers	Hela-S3	cervix
33	chr2:211994800-211995200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:211994800-211995200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:211994800-211995200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:211994800-211995200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:211994800-211995200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:211995000-211995200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:211996400-211998800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:211996400-211998800	Enhancers	HSMM	muscle
41	chr2:211996600-211998800	Enhancers	NH-A	brain
42	chr2:211996800-211998800	Enhancers	HMEC	breast
43	chr2:211996800-211998800	Enhancers	HUVEC	blood vessel
44	chr2:211996800-211999000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:211996800-211999000	Enhancers	Muscle Satellite Cultured Cells	--

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