Variant report

Variant	nsv527809
Chromosome Location	chr1:225045828-225048747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224688139..224690298-chr1:225044581..225047366,2	K562	blood:
2	chr1:225037838..225040570-chr1:225044190..225046369,2	MCF-7	breast:
3	chr1:225041281..225043818-chr1:225048183..225050379,2	K562	blood:
4	chr1:225038859..225040446-chr1:225045344..225047450,2	MCF-7	breast:
5	chr1:225044560..225047473-chr1:225049802..225052064,2	K562	blood:
6	chr1:225046184..225050488-chr1:225056479..225059457,3	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12028207	chr1:225045828-225045829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557375139	chr1:225045878-225045879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572590726	chr1:225045911-225045912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540352607	chr1:225045912-225045913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561651278	chr1:225045919-225045920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181877062	chr1:225045928-225045929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544087526	chr1:225045937-225045938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541709225	chr1:225045949-225045950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568834842	chr1:225045974-225045975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559409675	chr1:225045992-225045993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533311568	chr1:225046045-225046046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532744028	chr1:225046080-225046081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570891913	chr1:225046085-225046086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2405780	chr1:225046199-225046200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2800239	chr1:225046222-225046223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs568475519	chr1:225046227-225046228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146476458	chr1:225046228-225046229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113499469	chr1:225046251-225046252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2800238	chr1:225046256-225046257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567089561	chr1:225046261-225046262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147905645	chr1:225046267-225046268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557309716	chr1:225046378-225046379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184103729	chr1:225046382-225046383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372210312	chr1:225046413-225046414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536277525	chr1:225046453-225046454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60724635	chr1:225046457-225046458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555401766	chr1:225046470-225046471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76098368	chr1:225046570-225046571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544390383	chr1:225046605-225046606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544496602	chr1:225046654-225046655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562712311	chr1:225046679-225046680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533249222	chr1:225046701-225046702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546443309	chr1:225046746-225046747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148916466	chr1:225046822-225046823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560470379	chr1:225046835-225046836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528451395	chr1:225046848-225046849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188785597	chr1:225046877-225046878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76971700	chr1:225046899-225046900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529409912	chr1:225046902-225046903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551140714	chr1:225046933-225046934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569139080	chr1:225047025-225047026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539667023	chr1:225047035-225047036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180750090	chr1:225047038-225047039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143682505	chr1:225047080-225047081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114138088	chr1:225047081-225047082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555114964	chr1:225047090-225047091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115018818	chr1:225047091-225047092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555974235	chr1:225047118-225047119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185365440	chr1:225047155-225047156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556371747	chr1:225047164-225047165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225044000-225049200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:225047200-225047600	Enhancers	HMEC	breast
3	chr1:225047200-225048200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:225047400-225047600	Enhancers	HSMMtube	muscle
5	chr1:225047600-225049000	Weak transcription	HMEC	breast
6	chr1:225047800-225048800	Weak transcription	HSMMtube	muscle
7	chr1:225048200-225048800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:225048200-225049200	Enhancers	Fetal Brain Male	brain
9	chr1:225048200-225049400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:225048400-225049000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:225048400-225049000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:225048400-225049200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:225048600-225048800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:225048600-225049200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:225048600-225049200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr1:225048600-225049400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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