Variant report

Variant	esv1814306
Chromosome Location	chr2:40612383-40614532
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	chr1:117909379..117910083-chr2:40612320..40613217,2	NB4	blood:

Variant related genes	Relation type
ENSG00000198162	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186580086	chr2:40612390-40612391	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558477860	chr2:40612416-40612417	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570394689	chr2:40612428-40612429	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191157049	chr2:40612431-40612432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563762147	chr2:40612524-40612525	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs73928964	chr2:40612562-40612563	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10189274	chr2:40612577-40612578	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs67108146	chr2:40612597-40612598	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370896264	chr2:40612598-40612599	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188379148	chr2:40612623-40612624	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs72798644	chr2:40612641-40612642	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181282511	chr2:40612643-40612644	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140796614	chr2:40612650-40612651	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10678261	chr2:40612653-40612654	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185279991	chr2:40612656-40612657	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10165622	chr2:40612658-40612659	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577613681	chr2:40612675-40612676	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7599953	chr2:40612726-40612727	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563227273	chr2:40612741-40612742	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530745257	chr2:40612777-40612778	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10178405	chr2:40612784-40612785	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs560943905	chr2:40612804-40612805	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546596463	chr2:40612812-40612813	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141429209	chr2:40612821-40612822	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561375870	chr2:40612836-40612837	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs190158692	chr2:40612852-40612853	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571404870	chr2:40612878-40612879	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs369864638	chr2:40612887-40612888	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532126759	chr2:40612917-40612918	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373381213	chr2:40612918-40612919	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570336174	chr2:40612927-40612928	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550303181	chr2:40612931-40612932	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs143542558	chr2:40612940-40612941	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555886872	chr2:40612989-40612990	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370863990	chr2:40612999-40613000	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112496413	chr2:40613013-40613014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs151258230	chr2:40613035-40613036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs376823115	chr2:40613043-40613044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs35350701	chr2:40613099-40613100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs10181006	chr2:40613101-40613102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs10181007	chr2:40613103-40613104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs67373901	chr2:40613125-40613126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs60981590	chr2:40613127-40613128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533869575	chr2:40613144-40613145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182332384	chr2:40613184-40613185	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs55661117	chr2:40613206-40613207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs4446101	chr2:40613207-40613208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs374545505	chr2:40613213-40613214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575163577	chr2:40613229-40613230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542569037	chr2:40613237-40613238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40601000-40621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:40608400-40622000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:40608800-40612400	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:40609600-40621800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:40610000-40619000	Weak transcription	Dnd41	blood
6	chr2:40611000-40612600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:40611000-40612800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:40611000-40613600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:40611200-40612400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:40611200-40612600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:40611200-40612800	Enhancers	Fetal Heart	heart
12	chr2:40611200-40613000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:40611400-40612600	Enhancers	NHDF-Ad	bronchial
14	chr2:40611400-40613000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr2:40611400-40616200	Weak transcription	Left Ventricle	heart
16	chr2:40611600-40612400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:40611600-40612400	Enhancers	Hela-S3	cervix
18	chr2:40611600-40612600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:40611600-40612600	Enhancers	Osteobl	bone
20	chr2:40612200-40612400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:40612200-40612600	Enhancers	HSMM	muscle
22	chr2:40612200-40612600	Enhancers	NH-A	brain
23	chr2:40612200-40612800	Enhancers	HSMMtube	muscle
24	chr2:40612400-40612600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:40612400-40612800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr2:40612400-40613000	Enhancers	Colon Smooth Muscle	Colon
27	chr2:40612400-40613800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:40612600-40614000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:40612600-40614000	Weak transcription	Osteobl	bone
30	chr2:40612600-40622600	Weak transcription	HSMM	muscle
31	chr2:40612800-40613800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:40612800-40614000	Weak transcription	Fetal Heart	heart
33	chr2:40613000-40616000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr2:40613000-40618800	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:40613000-40619200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:40613600-40617200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr2:40613800-40614000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:40613800-40614600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:40614000-40614200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:40614000-40616200	Enhancers	Fetal Heart	heart

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