Variant report

Variant	esv3459543
Chromosome Location	chr2:40255479-40257908
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	chr2:40254887..40256636-chr2:40272268..40275019,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144643232	chr2:40255486-40255487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577254321	chr2:40255502-40255503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544696541	chr2:40255508-40255509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563289005	chr2:40255529-40255530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182738956	chr2:40255544-40255545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187427309	chr2:40255548-40255549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72791016	chr2:40255556-40255557	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs116133061	chr2:40255595-40255596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548076652	chr2:40255630-40255631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372643640	chr2:40255636-40255637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138474228	chr2:40255641-40255642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372678751	chr2:40255661-40255662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533319675	chr2:40255669-40255670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117691956	chr2:40255673-40255674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192857106	chr2:40255675-40255676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537537045	chr2:40255733-40255734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548932985	chr2:40255734-40255735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567425914	chr2:40255764-40255765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149603324	chr2:40255793-40255794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs80293620	chr2:40255800-40255801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560269748	chr2:40255825-40255826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183796447	chr2:40255862-40255863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143341915	chr2:40255869-40255870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556903644	chr2:40255947-40255948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575274181	chr2:40255949-40255950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527625881	chr2:40255993-40255994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542681016	chr2:40256018-40256019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549227340	chr2:40256029-40256030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575533927	chr2:40256067-40256068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557866115	chr2:40256071-40256072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371246210	chr2:40256106-40256107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188726087	chr2:40256107-40256108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568386037	chr2:40256115-40256116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541749975	chr2:40256121-40256122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560136243	chr2:40256141-40256142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535802858	chr2:40256184-40256185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533658117	chr2:40256186-40256187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545106601	chr2:40256207-40256208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2024420	chr2:40256218-40256219	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs530929075	chr2:40256230-40256231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569414981	chr2:40256250-40256251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12473190	chr2:40256265-40256266	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs567130864	chr2:40256301-40256302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371686804	chr2:40256315-40256316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72791018	chr2:40256319-40256320	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs193297111	chr2:40256363-40256364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183464301	chr2:40256371-40256372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114369161	chr2:40256377-40256378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148375805	chr2:40256472-40256473	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535976038	chr2:40256475-40256476	Enhancers Flanking Active TSS Weak transcription	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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40255000-40256800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:40255000-40257000	Enhancers	HSMMtube	muscle
3	chr2:40255000-40257200	Enhancers	HMEC	breast
4	chr2:40255000-40257200	Enhancers	HSMM	muscle
5	chr2:40255000-40257200	Enhancers	Osteobl	bone
6	chr2:40255000-40257400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:40255000-40258000	Enhancers	NHDF-Ad	bronchial
8	chr2:40255000-40260400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:40255200-40256200	Enhancers	NHEK	skin
10	chr2:40255200-40256400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr2:40255200-40257000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:40255200-40257000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:40255200-40257000	Enhancers	Fetal Thymus	thymus
14	chr2:40255200-40257400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:40255400-40255600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:40255400-40256400	Enhancers	Dnd41	blood
17	chr2:40255800-40256400	Enhancers	GM12878-XiMat	blood
18	chr2:40256000-40256400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:40256000-40256600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:40256000-40256600	Enhancers	Thymus	Thymus
21	chr2:40256000-40257000	Enhancers	Primary B cells from cord blood	blood
22	chr2:40256200-40257200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:40256200-40259400	Weak transcription	NHEK	skin
24	chr2:40256400-40257000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr2:40256400-40257200	Flanking Active TSS	GM12878-XiMat	blood
26	chr2:40256600-40257000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:40256600-40259200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:40256800-40259600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:40257000-40257400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:40257000-40258600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:40257000-40259200	Weak transcription	Fetal Thymus	thymus
32	chr2:40257000-40259600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:40257000-40259600	Weak transcription	HSMMtube	muscle
34	chr2:40257000-40261000	Weak transcription	Primary B cells from cord blood	blood
35	chr2:40257200-40258600	Weak transcription	HSMM	muscle
36	chr2:40257200-40258600	Weak transcription	Osteobl	bone
37	chr2:40257200-40259200	Weak transcription	HMEC	breast
38	chr2:40257400-40258400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:40257400-40259200	Weak transcription	Primary monocytes fromperipheralblood	blood

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