Variant report

Variant	nsv549192
Chromosome Location	chr1:215967857-216034753
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:215997317..215998169-chr1:216483808..216484336,2	MCF-7	breast:
2	chr1:215997259..215998053-chr1:216367425..216368023,3	MCF-7	breast:
3	chr1:215996903..215999986-chr1:216001908..216004780,3	K562	blood:
4	chr1:215961738..215963459-chr1:215966140..215968578,2	K562	blood:
5	chr1:215997510..215998170-chr1:216923482..216924060,2	MCF-7	breast:
6	chr1:216011612..216013640-chr1:216049925..216052317,2	K562	blood:
7	chr1:215997641..215998142-chr1:216394183..216395163,2	MCF-7	breast:
8	chr1:215996903..215999986-chr1:216001908..216004780,3	K562	blood:
9	chr1:215964422..215967259-chr1:215967947..215970309,2	MCF-7	breast:
10	chr1:216029161..216030804-chr1:216033493..216035714,2	K562	blood:
11	chr1:215997262..215998152-chr1:216394428..216395079,2	MCF-7	breast:
12	chr1:216029161..216030804-chr1:216033493..216035714,2	K562	blood:

No data

Extended variants
information (count: 1583 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1583 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17025432	chr1:215967857-215967858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79312944	chr1:215967925-215967926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150888064	chr1:215968044-215968045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571732259	chr1:215968057-215968058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533061941	chr1:215968071-215968072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59434539	chr1:215968074-215968075	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371123446	chr1:215968075-215968076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10746458	chr1:215968078-215968079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554930292	chr1:215968095-215968096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573266457	chr1:215968117-215968118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188784441	chr1:215968140-215968141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557950545	chr1:215968159-215968160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368479210	chr1:215968173-215968174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577736672	chr1:215968179-215968180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181678467	chr1:215968200-215968201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529441373	chr1:215968227-215968228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557451048	chr1:215968277-215968278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76255907	chr1:215968293-215968294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543090922	chr1:215968294-215968295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185459345	chr1:215968310-215968311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528815735	chr1:215968311-215968312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571798037	chr1:215968327-215968328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113504073	chr1:215968357-215968358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114096676	chr1:215968461-215968462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549473014	chr1:215968462-215968463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10864199	chr1:215968551-215968552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs139341704	chr1:215968552-215968553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548606503	chr1:215968607-215968608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562969715	chr1:215968621-215968622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565305046	chr1:215968637-215968638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17025435	chr1:215968752-215968753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557723082	chr1:215968763-215968764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557972868	chr1:215968788-215968789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571431136	chr1:215968789-215968790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74701604	chr1:215968827-215968828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111884741	chr1:215968838-215968839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531742169	chr1:215968843-215968844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557191578	chr1:215968874-215968875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77297318	chr1:215968924-215968925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10864200	chr1:215968999-215969000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377032797	chr1:215969051-215969052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17025437	chr1:215969074-215969075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540586471	chr1:215969126-215969127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545685610	chr1:215969128-215969129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12128983	chr1:215969130-215969131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12735481	chr1:215969183-215969184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75671695	chr1:215969185-215969186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180813296	chr1:215969186-215969187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561965088	chr1:215969192-215969193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185956895	chr1:215969201-215969202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215966000-215968000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:215967600-215971000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:215967600-215971400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:215967800-215968400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr1:215968000-215971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:215971000-215971800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:215971200-215971800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:215971400-215972000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:215980000-215980600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:215981000-215982000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:215981200-215981800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:215982600-215983000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:215986400-215987200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:215987200-216007400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:215988200-215988600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:215992000-215993800	Enhancers	NHLF	lung
17	chr1:215992600-215993000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:215992600-215993200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:215993000-215993400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:215993400-215997800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:215997800-215998200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:216002600-216003400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:216003200-216004200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:216003400-216003600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:216003600-216004000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:216004000-216004200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:216004200-216005000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:216007200-216008000	Enhancers	NHLF	lung
29	chr1:216007200-216008200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:216007200-216009800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:216007400-216008000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:216007400-216008800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr1:216007400-216009800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:216007600-216008000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:216007600-216008400	Enhancers	Osteobl	bone
36	chr1:216007600-216009200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:216007800-216008000	Enhancers	NHDF-Ad	bronchial
38	chr1:216007800-216008200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:216007800-216009000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:216007800-216009200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:216007800-216009600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:216008000-216008800	Weak transcription	NHLF	lung
43	chr1:216008000-216009000	Weak transcription	NHDF-Ad	bronchial
44	chr1:216008000-216014600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:216008200-216008600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:216008400-216018000	Weak transcription	Osteobl	bone
47	chr1:216008600-216009000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr1:216008600-216009600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:216008800-216009400	Enhancers	NHLF	lung
50	chr1:216009000-216009800	Enhancers	NHDF-Ad	bronchial

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