Variant report

Variant	nsv875773
Chromosome Location	chr2:211973600-212041403
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:211482310..211483112-chr2:212022669..212023186,2	MCF-7	breast:
2	chr2:211989762..211992437-chr2:211995215..211997517,2	MCF-7	breast:
3	chr2:211958444..211959027-chr2:212022593..212023191,2	MCF-7	breast:
4	chr2:211949706..211950500-chr2:212022258..212023250,2	MCF-7	breast:
5	chr2:211979527..211981470-chr2:211988454..211991128,2	MCF-7	breast:
6	chr2:211949726..211950394-chr2:212022355..212023014,3	MCF-7	breast:
7	chr2:212022243..212024951-chr2:212075273..212077446,2	MCF-7	breast:
8	chr2:211989762..211992437-chr2:211995215..211997517,2	MCF-7	breast:
9	chr2:211951231..211952004-chr2:212022300..212022853,2	MCF-7	breast:
10	chr2:212022878..212025223-chr2:212045457..212047124,2	K562	blood:
11	chr2:211979527..211981470-chr2:211988454..211991128,2	MCF-7	breast:

No data

Extended variants
information (count: 2254 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2254 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115125613	chr2:211974011-211974012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191633609	chr2:211974034-211974035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183840340	chr2:211974054-211974055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143551000	chr2:211974099-211974100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80056669	chr2:211974106-211974107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189123034	chr2:211974113-211974114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193297395	chr2:211974114-211974115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566357072	chr2:211974130-211974131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112384333	chr2:211974146-211974147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561372462	chr2:211974180-211974181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73985135	chr2:211974190-211974191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs707282	chr2:211974191-211974192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574104471	chr2:211974198-211974199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539932078	chr2:211974215-211974216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140692888	chr2:211974266-211974267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185461087	chr2:211974267-211974268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545308990	chr2:211974288-211974289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190368152	chr2:211974312-211974313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531205820	chr2:211974313-211974314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181586094	chr2:211974345-211974346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561223990	chr2:211974385-211974386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185750938	chr2:211974386-211974387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547111596	chr2:211974436-211974437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566878926	chr2:211974451-211974452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527322957	chr2:211974457-211974458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188557424	chr2:211974495-211974496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547398569	chr2:211974503-211974504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546918481	chr2:211974585-211974586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370034368	chr2:211974606-211974607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537707840	chr2:211974620-211974621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554484596	chr2:211974622-211974623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181056146	chr2:211974635-211974636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533572053	chr2:211974643-211974644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567399940	chr2:211974655-211974656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576831760	chr2:211974656-211974657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113780249	chr2:211974683-211974684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186276461	chr2:211974702-211974703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545908488	chr2:211974712-211974713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546712710	chr2:211974724-211974725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575916027	chr2:211974735-211974736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56393454	chr2:211974739-211974740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561613822	chr2:211974740-211974741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145341470	chr2:211974747-211974748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540302557	chr2:211974752-211974753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61141408	chr2:211974790-211974791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532472474	chr2:211974791-211974792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143069124	chr2:211974852-211974853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568948556	chr2:211974858-211974859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148212005	chr2:211974860-211974861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35600779	chr2:211974882-211974883	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:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211974000-211974200	Enhancers	HSMM	muscle
2	chr2:211974200-211979800	Weak transcription	HSMM	muscle
3	chr2:211977600-211979200	Enhancers	Liver	Liver
4	chr2:211977800-211978600	Enhancers	Fetal Brain Female	brain
5	chr2:211978000-211978800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:211978200-211978400	Enhancers	Brain Germinal Matrix	brain
7	chr2:211978200-211978600	Enhancers	Brain Hippocampus Middle	brain
8	chr2:211978200-211979000	Enhancers	Colon Smooth Muscle	Colon
9	chr2:211978400-211979600	Weak transcription	Brain Germinal Matrix	brain
10	chr2:211978600-211979600	Weak transcription	Fetal Brain Female	brain
11	chr2:211979400-211980600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:211979600-211980000	Enhancers	Fetal Brain Female	brain
13	chr2:211979600-211980800	Enhancers	Brain Germinal Matrix	brain
14	chr2:211979800-211980200	Enhancers	HSMMtube	muscle
15	chr2:211979800-211980600	Enhancers	Fetal Brain Male	brain
16	chr2:211979800-211981000	Enhancers	HSMM	muscle
17	chr2:211980800-211989000	Weak transcription	Brain Germinal Matrix	brain
18	chr2:211982000-211982600	Enhancers	Hela-S3	cervix
19	chr2:211987600-211987800	Enhancers	Fetal Brain Male	brain
20	chr2:211987800-211989600	Weak transcription	Fetal Brain Male	brain
21	chr2:211989000-211991600	Enhancers	Brain Germinal Matrix	brain
22	chr2:211989600-211991000	Enhancers	Fetal Brain Male	brain
23	chr2:211991000-211991800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:211991000-211991800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:211991000-211991800	Enhancers	Fetal Intestine Small	intestine
26	chr2:211991800-211993200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:211991800-211994600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:211992200-211992400	Enhancers	Hela-S3	cervix
29	chr2:211992400-211993000	Weak transcription	Hela-S3	cervix
30	chr2:211993000-211993400	Enhancers	NHEK	skin
31	chr2:211993000-211994200	Enhancers	Hela-S3	cervix
32	chr2:211993200-211993400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:211993200-211993400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:211993200-211993600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:211993200-211993600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:211993200-211993600	Enhancers	HMEC	breast
37	chr2:211993200-211993800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:211993400-211997000	Weak transcription	NHEK	skin
39	chr2:211993600-211994800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:211993600-211994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:211993600-211994800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:211993600-211996800	Weak transcription	HMEC	breast
43	chr2:211993600-211997400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:211993800-211994200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:211994200-211994600	Weak transcription	Hela-S3	cervix
46	chr2:211994200-211995400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:211994600-211996400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:211994600-211998800	Enhancers	Hela-S3	cervix
49	chr2:211994800-211995200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:211994800-211995200	Enhancers	HUES6 Cell Line	embryonic stem cell

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