Variant report

Variant	nsv4565
Chromosome Location	chr1:216720070-216765053
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:216480349..216481313-chr1:216739870..216740593,2	MCF-7	breast:
2	chr1:216740049..216740610-chr1:217507843..217508439,2	MCF-7	breast:
3	chr1:216722054..216724356-chr1:216727051..216729733,2	K562	blood:
4	chr1:216739850..216740707-chr1:216769423..216770025,2	MCF-7	breast:
5	chr1:216755828..216757414-chr1:216760890..216762450,2	MCF-7	breast:
6	chr1:216479663..216480513-chr1:216739675..216740627,3	MCF-7	breast:
7	chr1:216722054..216724356-chr1:216727051..216729733,2	K562	blood:
8	chr1:216764221..216767085-chr1:216773070..216774787,2	MCF-7	breast:
9	chr1:216755828..216757414-chr1:216760890..216762450,2	MCF-7	breast:
10	chr1:216739958..216740765-chr1:216915802..216916535,2	MCF-7	breast:
11	chr1:216739906..216740741-chr1:216915729..216916621,3	MCF-7	breast:
12	chr1:216734438..216737180-chr1:216741885..216744740,3	MCF-7	breast:
13	chr1:216483841..216485069-chr1:216739823..216740961,7	MCF-7	breast:
14	chr1:216734438..216737180-chr1:216741885..216744740,3	MCF-7	breast:
15	chr1:216483926..216484436-chr1:216740017..216740785,2	MCF-7	breast:

No data

Extended variants
information (count: 1753 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1753 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573864292	chr1:216720075-216720076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566016648	chr1:216720111-216720112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542576409	chr1:216720151-216720152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141742110	chr1:216720154-216720155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56192565	chr1:216720157-216720158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202125514	chr1:216720170-216720171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141282541	chr1:216720196-216720197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182902943	chr1:216720206-216720207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545163166	chr1:216720247-216720248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185316907	chr1:216720260-216720261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549578286	chr1:216720268-216720269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191494347	chr1:216720287-216720288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182458274	chr1:216720290-216720291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150345180	chr1:216720318-216720319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4846525	chr1:216720358-216720359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs200164492	chr1:216720374-216720375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566561388	chr1:216720449-216720450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538737706	chr1:216720455-216720456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60825994	chr1:216720523-216720524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569014671	chr1:216720555-216720556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114536786	chr1:216720567-216720568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556894613	chr1:216720579-216720580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201342032	chr1:216720592-216720593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140514176	chr1:216720595-216720596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573854315	chr1:216720598-216720599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140061606	chr1:216720610-216720611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562343833	chr1:216720615-216720616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55716294	chr1:216720620-216720621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542587241	chr1:216720632-216720633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193072760	chr1:216720751-216720752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572920018	chr1:216720761-216720762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17610844	chr1:216720786-216720787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs547826143	chr1:216720797-216720798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12067809	chr1:216720807-216720808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530636992	chr1:216720834-216720835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55675032	chr1:216720843-216720844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544763217	chr1:216720852-216720853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114932710	chr1:216720885-216720886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530404623	chr1:216720888-216720889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547018695	chr1:216720971-216720972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187902446	chr1:216721035-216721036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560111271	chr1:216721056-216721057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191988692	chr1:216721081-216721082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6673295	chr1:216721098-216721099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568978018	chr1:216721123-216721124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537977277	chr1:216721143-216721144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs137997507	chr1:216721206-216721207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550733056	chr1:216721237-216721238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6604634	chr1:216721255-216721256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs578003316	chr1:216721262-216721263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216705400-216721000	Weak transcription	Pancreas	Pancrea
2	chr1:216705400-216734800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:216708800-216744600	Weak transcription	Left Ventricle	heart
4	chr1:216717600-216723200	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:216721800-216774000	Weak transcription	Placenta	Placenta
6	chr1:216722400-216723000	Enhancers	Fetal Heart	heart
7	chr1:216723000-216723200	Flanking Active TSS	Fetal Heart	heart
8	chr1:216723200-216723400	Enhancers	Fetal Heart	heart
9	chr1:216723200-216723400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr1:216723200-216724000	Enhancers	Fetal Lung	lung
11	chr1:216723200-216724000	Enhancers	Fetal Muscle Leg	muscle
12	chr1:216723400-216723600	Flanking Active TSS	Fetal Heart	heart
13	chr1:216723400-216723600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:216723600-216723800	Enhancers	Fetal Heart	heart
15	chr1:216723600-216723800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:216723800-216724000	Flanking Active TSS	Fetal Heart	heart
17	chr1:216723800-216724200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr1:216724000-216726600	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:216724000-216726800	Enhancers	Fetal Heart	heart
20	chr1:216725000-216725400	Enhancers	Fetal Brain Male	brain
21	chr1:216726200-216726800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:216726400-216726800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:216726400-216726800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:216726400-216727000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:216726600-216726800	Enhancers	Fetal Muscle Leg	muscle
26	chr1:216728000-216729200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:216728400-216729400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:216729200-216733800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:216729400-216733800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:216732600-216732800	Weak transcription	Fetal Heart	heart
31	chr1:216732800-216735800	Enhancers	Fetal Heart	heart
32	chr1:216733800-216734200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:216733800-216734400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:216733800-216734600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr1:216733800-216734800	Enhancers	Stomach Mucosa	stomach
36	chr1:216734000-216734400	Active TSS	Duodenum Mucosa	Duodenum
37	chr1:216734000-216734400	Active TSS	Right Ventricle	heart
38	chr1:216734200-216736600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:216734600-216735000	Enhancers	Duodenum Mucosa	Duodenum
40	chr1:216735800-216738800	Weak transcription	Fetal Heart	heart
41	chr1:216735800-216755000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:216736400-216736600	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:216736600-216736800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:216736600-216736800	Enhancers	Fetal Muscle Leg	muscle
45	chr1:216736800-216743400	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:216736800-216744400	Weak transcription	Psoas Muscle	Psoas
47	chr1:216738800-216739600	Enhancers	Fetal Heart	heart
48	chr1:216739200-216744600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:216739600-216740000	Enhancers	Brain Germinal Matrix	brain
50	chr1:216739600-216740000	Enhancers	Fetal Brain Male	brain

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