Variant report

Variant	esv3362966
Chromosome Location	chr2:33325848-33330446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:33323744..33329444-chr2:33330202..33334725,9	K562	blood:
2	chr2:33325664..33327642-chr2:33328388..33329926,2	K562	blood:
3	chr2:33317907..33319908-chr2:33328771..33331730,2	K562	blood:
4	chr2:33325545..33328306-chr2:33331227..33333844,3	K562	blood:
5	chr2:33325664..33327642-chr2:33328388..33329926,2	K562	blood:
6	chr2:33319782..33321597-chr2:33324862..33327252,2	K562	blood:
7	chr2:33323744..33329444-chr2:33330202..33334725,9	K562	blood:
8	chr2:33321965..33324050-chr2:33326516..33328893,2	K562	blood:
9	chr2:33325612..33327794-chr2:33340279..33342950,2	MCF-7	breast:
10	chr2:33320811..33323465-chr2:33327393..33329847,2	K562	blood:

No data

Extended variants
information (count: 207 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:207 , 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	rs566415306	chr2:33325850-33325851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147932930	chr2:33325926-33325927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34533977	chr2:33325955-33325956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531597447	chr2:33325973-33325974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148972062	chr2:33326037-33326038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527465293	chr2:33326047-33326048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569058324	chr2:33326051-33326052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538131056	chr2:33326058-33326059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558045759	chr2:33326122-33326123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143830629	chr2:33326125-33326126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539816352	chr2:33326145-33326146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553349437	chr2:33326187-33326188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116477700	chr2:33326196-33326197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535973526	chr2:33326227-33326228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555678881	chr2:33326237-33326238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116495863	chr2:33326245-33326246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549470349	chr2:33326312-33326313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182359177	chr2:33326322-33326323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56361738	chr2:33326324-33326325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577936914	chr2:33326329-33326330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148174151	chr2:33326354-33326355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111512009	chr2:33326377-33326378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs386644581	chr2:33326382-33326383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs407093	chr2:33326384-33326385	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562583234	chr2:33326458-33326459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17012565	chr2:33326484-33326485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185209881	chr2:33326542-33326543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189602399	chr2:33326565-33326566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534116304	chr2:33326577-33326578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546656879	chr2:33326578-33326579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181248317	chr2:33326583-33326584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs202231579	chr2:33326600-33326601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566285632	chr2:33326634-33326635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535568710	chr2:33326653-33326654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555790075	chr2:33326760-33326761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536411981	chr2:33326787-33326788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575336434	chr2:33326800-33326801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538020888	chr2:33326864-33326865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557943916	chr2:33326913-33326914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373010546	chr2:33326927-33326928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577899889	chr2:33326944-33326945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs218216	chr2:33326959-33326960	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs559886908	chr2:33327014-33327015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573542918	chr2:33327085-33327086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201861000	chr2:33327106-33327107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372612005	chr2:33327149-33327150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367939177	chr2:33327165-33327166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368970650	chr2:33327170-33327171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117662024	chr2:33327205-33327206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144625796	chr2:33327238-33327239	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	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	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33309000-33333600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33309200-33329000	Weak transcription	K562	blood
3	chr2:33311400-33327800	Weak transcription	Fetal Kidney	kidney
4	chr2:33311800-33328000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:33312600-33329400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:33318000-33328600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:33318000-33333200	Weak transcription	Left Ventricle	heart
8	chr2:33324600-33328800	Weak transcription	NHLF	lung
9	chr2:33324800-33333200	Weak transcription	Right Atrium	heart
10	chr2:33325200-33327800	Enhancers	Fetal Heart	heart
11	chr2:33325400-33327000	Weak transcription	Ovary	ovary
12	chr2:33325400-33327000	Weak transcription	Right Ventricle	heart
13	chr2:33325600-33330200	Enhancers	Fetal Lung	lung
14	chr2:33326000-33327400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:33326400-33327000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:33326400-33327200	Enhancers	A549	lung
17	chr2:33326600-33327400	Enhancers	Stomach Smooth Muscle	stomach
18	chr2:33327000-33327200	Enhancers	Right Ventricle	heart
19	chr2:33327000-33327200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:33327000-33330200	Enhancers	Ovary	ovary
21	chr2:33327000-33330400	Enhancers	Aorta	Aorta
22	chr2:33327200-33327600	Weak transcription	Right Ventricle	heart
23	chr2:33327200-33328000	Weak transcription	A549	lung
24	chr2:33327200-33329400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:33327400-33328200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:33327400-33328600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:33327600-33328200	Enhancers	Right Ventricle	heart
28	chr2:33327800-33328000	Flanking Active TSS	Fetal Heart	heart
29	chr2:33327800-33328200	Enhancers	Gastric	stomach
30	chr2:33327800-33328200	Enhancers	Psoas Muscle	Psoas
31	chr2:33327800-33328600	Active TSS	Fetal Brain Male	brain
32	chr2:33327800-33328600	Genic enhancers	Fetal Kidney	kidney
33	chr2:33328000-33328200	Enhancers	Colon Smooth Muscle	Colon
34	chr2:33328000-33328600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
35	chr2:33328000-33329000	Enhancers	A549	lung
36	chr2:33328000-33330200	Enhancers	Fetal Heart	heart
37	chr2:33328000-33333600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:33328200-33328600	Weak transcription	Psoas Muscle	Psoas
39	chr2:33328200-33330000	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:33328200-33330400	Enhancers	HUVEC	blood vessel
41	chr2:33328200-33333000	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:33328200-33333200	Weak transcription	Right Ventricle	heart
43	chr2:33328600-33328800	Enhancers	Psoas Muscle	Psoas
44	chr2:33328600-33330400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:33328600-33330400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:33328600-33332000	Enhancers	NHDF-Ad	bronchial
47	chr2:33328600-33334000	Weak transcription	Fetal Kidney	kidney
48	chr2:33328800-33329400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:33328800-33329600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr2:33328800-33329800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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