Variant report

Variant	esv274907
Chromosome Location	chr2:63524887-63529861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:63519666..63522078-chr2:63524666..63526969,2	MCF-7	breast:
2	chr2:63519650..63522564-chr2:63524374..63526614,2	MCF-7	breast:
3	chr2:63524592..63526238-chr2:63528273..63529804,2	K562	blood:
4	chr2:63524592..63526238-chr2:63528273..63529804,2	K562	blood:

Extended variants
information (count: 180 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182963700	chr2:63524890-63524891	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373141764	chr2:63524927-63524928	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549160089	chr2:63524933-63524934	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538297309	chr2:63524937-63524938	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567491943	chr2:63524957-63524958	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551490478	chr2:63525010-63525011	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370040877	chr2:63525022-63525023	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76114851	chr2:63525043-63525044	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546218552	chr2:63525063-63525064	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570933316	chr2:63525075-63525076	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs55687260	chr2:63525078-63525079	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7591562	chr2:63525102-63525103	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs6545986	chr2:63525117-63525118	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs537287660	chr2:63525129-63525130	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142565253	chr2:63525146-63525147	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145956841	chr2:63525167-63525168	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563599709	chr2:63525168-63525169	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541766184	chr2:63525211-63525212	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116324202	chr2:63525221-63525222	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188409145	chr2:63525233-63525234	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552411207	chr2:63525240-63525241	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61579586	chr2:63525257-63525258	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563680185	chr2:63525318-63525319	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531027705	chr2:63525319-63525320	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542493014	chr2:63525332-63525333	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561117342	chr2:63525344-63525345	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192587237	chr2:63525347-63525348	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546506833	chr2:63525396-63525397	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569097536	chr2:63525412-63525413	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531985518	chr2:63525413-63525414	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539716415	chr2:63525432-63525433	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571668788	chr2:63525479-63525480	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550151565	chr2:63525655-63525656	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149704846	chr2:63525683-63525684	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184573546	chr2:63525765-63525766	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554337057	chr2:63525783-63525784	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567862792	chr2:63525803-63525804	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377505864	chr2:63525804-63525805	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535183169	chr2:63525809-63525810	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148411404	chr2:63525867-63525868	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578249880	chr2:63525885-63525886	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539078976	chr2:63526018-63526019	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2138792	chr2:63526039-63526040	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557310625	chr2:63526043-63526044	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575680038	chr2:63526068-63526069	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2176412	chr2:63526096-63526097	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71422382	chr2:63526137-63526138	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543130520	chr2:63526172-63526173	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74384251	chr2:63526179-63526180	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572711194	chr2:63526202-63526203	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63515400-63526200	Weak transcription	Gastric	stomach
2	chr2:63520400-63525200	Weak transcription	Pancreas	Pancrea
3	chr2:63524000-63532600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:63524200-63525600	ZNF genes & repeats	Ovary	ovary
5	chr2:63524200-63526800	ZNF genes & repeats	Brain Anterior Caudate	brain
6	chr2:63524600-63526400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:63525200-63526600	ZNF genes & repeats	Pancreas	Pancrea
8	chr2:63525200-63529400	ZNF genes & repeats	Aorta	Aorta
9	chr2:63525400-63526400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:63525400-63531000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr2:63525600-63526200	Strong transcription	Ovary	ovary
12	chr2:63525800-63526000	ZNF genes & repeats	Fetal Muscle Leg	muscle
13	chr2:63525800-63526400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
14	chr2:63525800-63526800	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr2:63525800-63530800	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr2:63525800-63532600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr2:63526000-63531600	ZNF genes & repeats	Liver	Liver
18	chr2:63526000-63531800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr2:63526000-63531800	ZNF genes & repeats	Dnd41	blood
20	chr2:63526200-63526600	ZNF genes & repeats	Gastric	stomach
21	chr2:63526200-63526800	ZNF genes & repeats	Ovary	ovary
22	chr2:63526200-63529000	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr2:63526200-63530600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr2:63526200-63530800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr2:63526400-63528200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
26	chr2:63526400-63528800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:63526400-63530600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
28	chr2:63526400-63531000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:63526600-63526800	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr2:63526800-63527000	Weak transcription	Primary T cells from cord blood	blood
31	chr2:63527200-63528600	ZNF genes & repeats	Fetal Lung	lung
32	chr2:63527600-63528400	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr2:63527600-63529800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:63527800-63528200	ZNF genes & repeats	HepG2	liver
35	chr2:63527800-63529400	ZNF genes & repeats	Brain Angular Gyrus	brain
36	chr2:63528000-63530400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr2:63528200-63529000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
38	chr2:63528400-63531000	ZNF genes & repeats	Left Ventricle	heart
39	chr2:63528600-63528800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
40	chr2:63529000-63531000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
41	chr2:63529400-63529600	ZNF genes & repeats	Fetal Lung	lung
42	chr2:63529400-63531600	Weak transcription	Aorta	Aorta
43	chr2:63529800-63530600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:63529800-63531000	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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