Variant report

Variant	nsv520444
Chromosome Location	chr2:231014505-231021064
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:231017697..231020252-chr2:231024181..231026351,2	K562	blood:
2	chr2:231016438..231018368-chr2:231018976..231021680,2	K562	blood:
3	chr2:231020225..231023004-chr2:231144034..231146526,2	K562	blood:
4	chr2:231018752..231022838-chr2:231023461..231026351,3	K562	blood:
5	chr2:231016438..231018368-chr2:231018976..231021680,2	K562	blood:
6	chr2:231018019..231019836-chr2:231022699..231024449,2	MCF-7	breast:
7	chr2:231007633..231009577-chr2:231010416..231014547,3	K562	blood:

No data

Extended variants
information (count: 139 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192343356	chr2:231017405-231017406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202095108	chr2:231017430-231017431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10804362	chr2:231017452-231017453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs141794904	chr2:231017454-231017455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112493719	chr2:231017493-231017494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528507462	chr2:231017500-231017501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71049632	chr2:231017518-231017519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374231926	chr2:231017576-231017577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548617761	chr2:231017605-231017606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567152759	chr2:231017664-231017665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534533021	chr2:231017668-231017669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575833974	chr2:231017680-231017681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376792412	chr2:231017695-231017696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552490814	chr2:231017704-231017705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571063581	chr2:231017771-231017772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570825097	chr2:231017789-231017790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113558949	chr2:231017793-231017794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530122600	chr2:231017835-231017836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535051216	chr2:231017839-231017840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13034761	chr2:231017864-231017865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184459402	chr2:231017870-231017871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571988174	chr2:231017905-231017906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79472278	chr2:231017956-231017957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77223912	chr2:231017957-231017958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546677217	chr2:231018002-231018003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546126805	chr2:231018099-231018100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562237679	chr2:231018117-231018118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564118363	chr2:231018120-231018121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141105989	chr2:231018139-231018140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115451782	chr2:231018165-231018166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7424288	chr2:231018169-231018170	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs150260213	chr2:231018174-231018175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530251839	chr2:231018180-231018181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548578783	chr2:231018208-231018209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373988394	chr2:231018218-231018219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527968105	chr2:231018234-231018235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12694843	chr2:231018250-231018251	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs571062062	chr2:231018258-231018259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564714713	chr2:231018300-231018301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs137884269	chr2:231018419-231018420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533434088	chr2:231018439-231018440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535201913	chr2:231018480-231018481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553350165	chr2:231018569-231018570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77755075	chr2:231018571-231018572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189741231	chr2:231018600-231018601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552765712	chr2:231018604-231018605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140794664	chr2:231018672-231018673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576273254	chr2:231018688-231018689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375014729	chr2:231018759-231018760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543625393	chr2:231018760-231018761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
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
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
Breast cancer	22522925	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231017400-231018200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:231018000-231018600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:231018000-231019200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:231018000-231020200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:231018200-231018400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:231018200-231018600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:231018200-231018600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:231018200-231018600	Enhancers	Fetal Intestine Small	intestine
9	chr2:231018200-231018800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:231018200-231022600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:231018200-231026000	Weak transcription	Primary T cells from cord blood	blood
12	chr2:231018600-231019000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:231018600-231019600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:231019000-231019200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:231019000-231019800	Enhancers	Placenta	Placenta
16	chr2:231019000-231022400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:231019200-231020000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:231019200-231020200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:231019200-231022800	Enhancers	Primary hematopoietic stem cells	blood
20	chr2:231019400-231020600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:231019400-231024600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:231019600-231020400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:231019600-231020600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:231019800-231020600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:231020000-231020400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:231020200-231020400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:231020200-231020400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr2:231020200-231021200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:231020400-231021600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:231020400-231022600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:231020600-231021000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:231020600-231028400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr2:231021000-231022400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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