Variant report

Variant	esv3488412
Chromosome Location	chr2:234698909-234699450
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: 49 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5839492	chr2:234698912-234698913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs3064745	chr2:234698913-234698914	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs397837855	chr2:234698917-234698918	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs139869678	chr2:234698919-234698920	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150372592	chr2:234698921-234698922	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537072054	chr2:234698931-234698932	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs56805103	chr2:234698932-234698933	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536026918	chr2:234698935-234698936	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534776326	chr2:234698939-234698940	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369384637	chr2:234698947-234698948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs373701523	chr2:234698948-234698949	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561647400	chr2:234698960-234698961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs527850006	chr2:234698961-234698962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12986677	chr2:234698976-234698977	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs114619228	chr2:234698986-234698987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371308267	chr2:234699038-234699039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191764586	chr2:234699044-234699045	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13397353	chr2:234699046-234699047	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs13397354	chr2:234699051-234699052	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113031413	chr2:234699066-234699067	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs72178805	chr2:234699067-234699068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113573231	chr2:234699069-234699070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs13022508	chr2:234699086-234699087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs111850622	chr2:234699092-234699093	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs60683861	chr2:234699094-234699095	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113323820	chr2:234699097-234699098	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs372284787	chr2:234699098-234699099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376731781	chr2:234699110-234699111	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376808729	chr2:234699113-234699114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs60141557	chr2:234699114-234699115	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs13006586	chr2:234699116-234699117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs60525021	chr2:234699117-234699118	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371413357	chr2:234699127-234699128	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537054118	chr2:234699129-234699130	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369839894	chr2:234699135-234699136	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs570051938	chr2:234699204-234699205	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184882793	chr2:234699221-234699222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535510266	chr2:234699240-234699241	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555789933	chr2:234699303-234699304	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs62191949	chr2:234699316-234699317	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373459745	chr2:234699319-234699320	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs371940480	chr2:234699320-234699321	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557387796	chr2:234699324-234699325	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371252639	chr2:234699349-234699350	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115267105	chr2:234699356-234699357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs62191951	chr2:234699366-234699367	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
47	rs533940393	chr2:234699387-234699388	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553548120	chr2:234699411-234699412	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370976088	chr2:234699423-234699424	Enhancers	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234699400-234699800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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