Variant report

Variant	nsv584706
Chromosome Location	chr2:234698097-234699242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:234683624-234705119..2:234772667-234780240	Hela-S3	cervix:
2	chr2:234697940..234699847-chr2:234705586..234707184,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224287	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12468017	chr2:234698097-234698098	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17862888	chr2:234698126-234698127	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576621802	chr2:234698170-234698171	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544032404	chr2:234698178-234698179	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554748658	chr2:234698203-234698204	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574586486	chr2:234698218-234698219	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs191058408	chr2:234698220-234698221	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182113274	chr2:234698223-234698224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531954806	chr2:234698233-234698234	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs141722641	chr2:234698295-234698296	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563790118	chr2:234698322-234698323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs115881076	chr2:234698324-234698325	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529304180	chr2:234698330-234698331	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs531431538	chr2:234698341-234698342	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs73999046	chr2:234698348-234698349	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs568621019	chr2:234698358-234698359	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs76142791	chr2:234698372-234698373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186940400	chr2:234698406-234698407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs73999047	chr2:234698416-234698417	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375438524	chr2:234698423-234698424	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs28900422	chr2:234698428-234698429	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556603473	chr2:234698431-234698432	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570114264	chr2:234698453-234698454	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535937590	chr2:234698484-234698485	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141152795	chr2:234698550-234698551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574554926	chr2:234698552-234698553	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs537578655	chr2:234698622-234698623	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553616004	chr2:234698653-234698654	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576728481	chr2:234698746-234698747	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2361502	chr2:234698790-234698791	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
31	rs562133268	chr2:234698857-234698858	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs575986073	chr2:234698878-234698879	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111244325	chr2:234698901-234698902	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs5839492	chr2:234698912-234698913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs3064745	chr2:234698913-234698914	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs397837855	chr2:234698917-234698918	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs139869678	chr2:234698919-234698920	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs150372592	chr2:234698921-234698922	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537072054	chr2:234698931-234698932	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs56805103	chr2:234698932-234698933	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536026918	chr2:234698935-234698936	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs534776326	chr2:234698939-234698940	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs369384637	chr2:234698947-234698948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373701523	chr2:234698948-234698949	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs561647400	chr2:234698960-234698961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs527850006	chr2:234698961-234698962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12986677	chr2:234698976-234698977	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs114619228	chr2:234698986-234698987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371308267	chr2:234699038-234699039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191764586	chr2:234699044-234699045	Inactive region	Chromatin interactive region	1 gene(s)	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
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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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