Variant report

Variant	esv3387068
Chromosome Location	chr2:33404723-33413240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33404885..33406677-chr2:33408653..33411758,3	K562	blood:
2	chr2:33387130..33389156-chr2:33413071..33415726,2	K562	blood:
3	chr2:33404885..33406677-chr2:33408653..33411758,3	K562	blood:
4	chr2:33409906..33412489-chr2:33417595..33419969,2	MCF-7	breast:

Extended variants
information (count: 459 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188934513	chr2:33404744-33404745	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181950311	chr2:33404745-33404746	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557108713	chr2:33404749-33404750	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577405343	chr2:33404750-33404751	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145007213	chr2:33404798-33404799	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186288928	chr2:33404816-33404817	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569076109	chr2:33404823-33404824	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189450480	chr2:33404825-33404826	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77928948	chr2:33404865-33404866	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11898777	chr2:33404876-33404877	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181056845	chr2:33404878-33404879	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185897019	chr2:33404889-33404890	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562755845	chr2:33404906-33404907	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191536212	chr2:33404914-33404915	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546242999	chr2:33404938-33404939	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566241295	chr2:33404947-33404948	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529053515	chr2:33404959-33404960	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569421894	chr2:33404977-33404978	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182857451	chr2:33404987-33404988	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74773164	chr2:33404989-33404990	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537789712	chr2:33405004-33405005	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187039004	chr2:33405046-33405047	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576750225	chr2:33405061-33405062	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551483936	chr2:33405097-33405098	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147598134	chr2:33405110-33405111	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539848465	chr2:33405114-33405115	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553469209	chr2:33405117-33405118	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6751657	chr2:33405151-33405152	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190351637	chr2:33405203-33405204	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536023858	chr2:33405219-33405220	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6736870	chr2:33405248-33405249	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183262787	chr2:33405272-33405273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6707904	chr2:33405332-33405333	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564443744	chr2:33405345-33405346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574729803	chr2:33405350-33405351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187950692	chr2:33405353-33405354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539860361	chr2:33405363-33405364	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559790635	chr2:33405373-33405374	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529009292	chr2:33405384-33405385	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549149780	chr2:33405386-33405387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562587256	chr2:33405423-33405424	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531533564	chr2:33405424-33405425	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140395622	chr2:33405426-33405427	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571580432	chr2:33405428-33405429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6736908	chr2:33405443-33405444	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs5006126	chr2:33405465-33405466	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566940497	chr2:33405470-33405471	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546258900	chr2:33405472-33405473	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192425153	chr2:33405473-33405474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555925761	chr2:33405474-33405475	Weak transcription Strong 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:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33375000-33408400	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:33392200-33411800	Weak transcription	Left Ventricle	heart
3	chr2:33392600-33405600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:33392800-33413600	Weak transcription	HUVEC	blood vessel
5	chr2:33393000-33405000	Weak transcription	Aorta	Aorta
6	chr2:33393200-33408400	Weak transcription	NH-A	brain
7	chr2:33393400-33405000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:33394000-33420600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:33394400-33406000	Weak transcription	Osteobl	bone
10	chr2:33394400-33408200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:33394400-33408400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:33394400-33410000	Weak transcription	NHLF	lung
13	chr2:33394400-33412000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:33394400-33415000	Weak transcription	NHDF-Ad	bronchial
15	chr2:33394800-33408200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:33394800-33408400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:33398600-33408400	Weak transcription	Ovary	ovary
18	chr2:33400400-33413600	Weak transcription	Liver	Liver
19	chr2:33400800-33405000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:33401600-33405200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:33402000-33408400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:33403400-33408400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:33403800-33418800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:33404000-33404800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:33404000-33405600	Weak transcription	Fetal Heart	heart
27	chr2:33404200-33408800	Weak transcription	Right Ventricle	heart
28	chr2:33404200-33413600	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:33404800-33405800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:33405000-33405600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:33405000-33405600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:33405000-33406800	Enhancers	Aorta	Aorta
33	chr2:33405200-33406800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:33405600-33406600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr2:33405600-33407000	Enhancers	Fetal Heart	heart
36	chr2:33405600-33408200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:33405600-33408200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:33405800-33406400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:33406000-33406200	Enhancers	Psoas Muscle	Psoas
40	chr2:33406000-33406600	Genic enhancers	Osteobl	bone
41	chr2:33406200-33408400	Weak transcription	Psoas Muscle	Psoas
42	chr2:33406400-33419400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:33406600-33407000	Strong transcription	Osteobl	bone
44	chr2:33406600-33411800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:33406600-33412200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:33406800-33408400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:33406800-33408800	Weak transcription	Aorta	Aorta
48	chr2:33407000-33408800	Weak transcription	Fetal Heart	heart
49	chr2:33407000-33411800	Weak transcription	Osteobl	bone
50	chr2:33408000-33422400	Weak transcription	Brain Inferior Temporal Lobe	brain

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