Variant report

Variant	nsv524233
Chromosome Location	chr1:225340241-225347689
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225339059..225340673-chr1:225341407..225343124,2	K562	blood:
2	chr1:225114949..225117606-chr1:225342545..225344625,2	K562	blood:
3	chr1:225339059..225340673-chr1:225341407..225343124,2	K562	blood:

Variant related genes	Relation type
ENSG00000185842	chromatin interactions

Extended variants
information (count: 238 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1842332	chr1:225340241-225340242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183828198	chr1:225340244-225340245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370451718	chr1:225340313-225340314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73135004	chr1:225340364-225340365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs372229433	chr1:225340380-225340381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559411871	chr1:225340402-225340403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17578819	chr1:225340410-225340411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188496398	chr1:225340420-225340421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375432909	chr1:225340436-225340437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191860318	chr1:225340445-225340446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530709450	chr1:225340446-225340447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577893006	chr1:225340508-225340509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552516549	chr1:225340529-225340530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538516167	chr1:225340548-225340549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139949596	chr1:225340564-225340565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183567269	chr1:225340565-225340566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143916022	chr1:225340566-225340567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147234788	chr1:225340603-225340604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536373263	chr1:225340615-225340616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140760573	chr1:225340651-225340652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565368445	chr1:225340656-225340657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569928553	chr1:225340658-225340659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537217065	chr1:225340735-225340736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559203196	chr1:225340743-225340744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534317989	chr1:225340748-225340749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577428384	chr1:225340786-225340787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188295613	chr1:225340792-225340793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9659564	chr1:225340817-225340818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs377046855	chr1:225340824-225340825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34517951	chr1:225340854-225340855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs9725695	chr1:225340885-225340886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs375275219	chr1:225340947-225340948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563339562	chr1:225341040-225341041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575532585	chr1:225341125-225341126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545974665	chr1:225341183-225341184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374386190	chr1:225341184-225341185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556453539	chr1:225341205-225341206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10915789	chr1:225341217-225341218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546850488	chr1:225341239-225341240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150324323	chr1:225341244-225341245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374620271	chr1:225341246-225341247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559521219	chr1:225341354-225341355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182261026	chr1:225341375-225341376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548295347	chr1:225341382-225341383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569764511	chr1:225341393-225341394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187307469	chr1:225341442-225341443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190061594	chr1:225341473-225341474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369373571	chr1:225341507-225341508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144904397	chr1:225341589-225341590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553615473	chr1:225341598-225341599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225301800-225355800	Weak transcription	Pancreas	Pancrea
2	chr1:225322000-225356000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:225326400-225355800	Weak transcription	Ovary	ovary
4	chr1:225332800-225356000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:225334200-225343400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:225336600-225341600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:225338200-225355600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:225339000-225340400	Enhancers	HSMMtube	muscle
9	chr1:225340400-225344200	Weak transcription	Fetal Intestine Large	intestine
10	chr1:225343200-225343600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:225343400-225344200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:225343400-225344200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:225343400-225344400	Enhancers	HUVEC	blood vessel
14	chr1:225343600-225344000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr1:225343600-225344000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:225343600-225344400	Enhancers	Primary T cells from cord blood	blood
17	chr1:225343800-225344400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:225344000-225344400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:225344000-225356200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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