Variant report

Variant	nsv875772
Chromosome Location	chr2:211893388-211946057
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:211528012..211528782-chr2:211919888..211920455,2	MCF-7	breast:
2	chr2:211920134..211920765-chr2:211949746..211950414,2	MCF-7	breast:
3	chr2:211442263..211442919-chr2:211898314..211899126,2	MCF-7	breast:
4	chr2:211918949..211922416-chr2:211922605..211926396,3	MCF-7	breast:
5	chr2:211482589..211483492-chr2:211899977..211900599,3	MCF-7	breast:
6	chr2:211918949..211922416-chr2:211922605..211926396,3	MCF-7	breast:
7	chr2:211912454..211914426-chr2:211915786..211917883,2	K562	blood:
8	chr2:211912454..211914426-chr2:211915786..211917883,2	K562	blood:
9	chr2:211527941..211528689-chr2:211896794..211897496,2	MCF-7	breast:
10	chr2:211527997..211528722-chr2:211900005..211900896,3	MCF-7	breast:
11	chr2:211898222..211899132-chr2:211949475..211950082,2	MCF-7	breast:
12	chr2:211527960..211528912-chr2:211899983..211901271,6	MCF-7	breast:
13	chr2:211112989..211113918-chr2:211900038..211900547,2	MCF-7	breast:

No data

Extended variants
information (count: 667 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:667 , 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	rs319719	chr2:211893388-211893389	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370645919	chr2:211896644-211896645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374355161	chr2:211896663-211896664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77592958	chr2:211896669-211896670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150908490	chr2:211896680-211896681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112473173	chr2:211896740-211896741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561426192	chr2:211896764-211896765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550557505	chr2:211896765-211896766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143287060	chr2:211896861-211896862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540286438	chr2:211896877-211896878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530207322	chr2:211896895-211896896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573258718	chr2:211896907-211896908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186794559	chr2:211897016-211897017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552376057	chr2:211897025-211897026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191263702	chr2:211897048-211897049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552292193	chr2:211897065-211897066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151132658	chr2:211897086-211897087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28406274	chr2:211897113-211897114	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558482868	chr2:211897169-211897170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376907155	chr2:211897178-211897179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10804187	chr2:211897179-211897180	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184800673	chr2:211897189-211897190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533754047	chr2:211897234-211897235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73069821	chr2:211897252-211897253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570495555	chr2:211897280-211897281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139038702	chr2:211897281-211897282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79591272	chr2:211897284-211897285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189259861	chr2:211897292-211897293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538064740	chr2:211897334-211897335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76801870	chr2:211897335-211897336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73069823	chr2:211897357-211897358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544312418	chr2:211897439-211897440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560101014	chr2:211897462-211897463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576871872	chr2:211897494-211897495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35504211	chr2:211897559-211897560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149956375	chr2:211897600-211897601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531498444	chr2:211897623-211897624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548106226	chr2:211897683-211897684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561946950	chr2:211897684-211897685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574561939	chr2:211897701-211897702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181960430	chr2:211897750-211897751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145133073	chr2:211897837-211897838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142153630	chr2:211897885-211897886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11692975	chr2:211897927-211897928	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185359979	chr2:211897955-211897956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376694038	chr2:211897977-211897978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11886317	chr2:211897996-211897997	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538409136	chr2:211898001-211898002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554845149	chr2:211898026-211898027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs418123	chr2:211898042-211898043	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Acute lymphoblastic leukemia	22237106	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211892800-211893400	Enhancers	HepG2	liver
2	chr2:211896600-211897200	Enhancers	Brain Germinal Matrix	brain
3	chr2:211897200-211898400	Weak transcription	Brain Germinal Matrix	brain
4	chr2:211897800-211898000	Enhancers	Brain Angular Gyrus	brain
5	chr2:211898000-211898400	Enhancers	Brain Cingulate Gyrus	brain
6	chr2:211898400-211898800	Enhancers	Brain Germinal Matrix	brain
7	chr2:211898800-211899000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:211898800-211900200	Weak transcription	Brain Germinal Matrix	brain
9	chr2:211899600-211899800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:211900200-211900800	Enhancers	Brain Angular Gyrus	brain
11	chr2:211900400-211900600	Enhancers	Brain Germinal Matrix	brain
12	chr2:211900400-211900600	Enhancers	HUVEC	blood vessel
13	chr2:211900600-211900800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:211901400-211902400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:211909000-211910400	Enhancers	Liver	Liver
16	chr2:211909800-211910200	Enhancers	HepG2	liver
17	chr2:211912200-211912600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:211925200-211925400	Enhancers	Fetal Intestine Large	intestine
19	chr2:211925400-211926400	Weak transcription	Fetal Intestine Large	intestine
20	chr2:211925600-211926600	Enhancers	Fetal Intestine Small	intestine
21	chr2:211926200-211926600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr2:211926200-211927200	Enhancers	HepG2	liver
23	chr2:211926400-211927200	Enhancers	Liver	Liver
24	chr2:211926400-211927200	Enhancers	Fetal Intestine Large	intestine
25	chr2:211926400-211927400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:211926600-211926800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:211926800-211927600	Enhancers	Adipose Nuclei	Adipose
28	chr2:211928400-211930600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:211930600-211930800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:211932600-211933600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:211941800-211943200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr2:211942400-211943000	Enhancers	Brain Germinal Matrix	brain
33	chr2:211943000-211949200	Weak transcription	Brain Germinal Matrix	brain

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