Variant report

Variant	esv3458468
Chromosome Location	chr2:149248590-149250684
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	chr2:148704147..148707130-chr2:149248171..149249711,2	K562	blood:
2	chr2:149239376..149241711-chr2:149247771..149249475,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377648295	chr2:149248593-149248594	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs553875342	chr2:149248618-149248619	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs572528443	chr2:149248642-149248643	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs188664583	chr2:149248744-149248745	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs573128963	chr2:149248789-149248790	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557798145	chr2:149248820-149248821	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575856242	chr2:149248838-149248839	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543168525	chr2:149248854-149248855	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543680655	chr2:149248867-149248868	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561657906	chr2:149248919-149248920	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573843894	chr2:149248923-149248924	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541070101	chr2:149248968-149248969	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559064801	chr2:149248998-149248999	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146297907	chr2:149249012-149249013	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551208484	chr2:149249014-149249015	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115940837	chr2:149249015-149249016	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531950571	chr2:149249119-149249120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550385436	chr2:149249169-149249170	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139146179	chr2:149249180-149249181	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192991361	chr2:149249209-149249210	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547803497	chr2:149249255-149249256	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112852530	chr2:149249301-149249302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140484901	chr2:149249328-149249329	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182993625	chr2:149249372-149249373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73003507	chr2:149249379-149249380	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs557836989	chr2:149249383-149249384	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368919937	chr2:149249493-149249494	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562721293	chr2:149249521-149249522	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569776642	chr2:149249536-149249537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34371954	chr2:149249561-149249562	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187288987	chr2:149249566-149249567	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191690401	chr2:149249605-149249606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573907710	chr2:149249682-149249683	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540982685	chr2:149249729-149249730	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183861814	chr2:149249734-149249735	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577568546	chr2:149249756-149249757	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544980259	chr2:149249757-149249758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563411968	chr2:149249872-149249873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150145418	chr2:149249928-149249929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138607778	chr2:149249973-149249974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562124524	chr2:149250069-149250070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533609462	chr2:149250146-149250147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12620213	chr2:149250195-149250196	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560214258	chr2:149250201-149250202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367572706	chr2:149250456-149250457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547798958	chr2:149250469-149250470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566318482	chr2:149250473-149250474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533184445	chr2:149250635-149250636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149225000-149249200	Weak transcription	NHLF	lung
2	chr2:149226800-149250200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:149227200-149259200	Weak transcription	Right Ventricle	heart
4	chr2:149227400-149250800	Weak transcription	Primary B cells from cord blood	blood
5	chr2:149227400-149251400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:149227600-149259200	Weak transcription	Gastric	stomach
7	chr2:149227800-149251000	Weak transcription	GM12878-XiMat	blood
8	chr2:149227800-149259200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:149228000-149259200	Weak transcription	Pancreas	Pancrea
10	chr2:149228400-149251400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:149241600-149250600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:149242000-149257400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:149242200-149251000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:149242400-149248600	Weak transcription	Dnd41	blood
15	chr2:149242800-149248600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:149243800-149254000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:149244000-149253600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:149244200-149254200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:149244200-149261400	Weak transcription	Small Intestine	intestine
20	chr2:149244400-149249600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:149244600-149249000	Weak transcription	Osteobl	bone
22	chr2:149244600-149251600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:149245000-149252600	Weak transcription	Esophagus	oesophagus
24	chr2:149245400-149266800	Weak transcription	Thymus	Thymus
25	chr2:149245600-149249200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:149246000-149261200	Weak transcription	Fetal Heart	heart
27	chr2:149246800-149248600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr2:149246800-149248800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:149246800-149249200	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr2:149247000-149248600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:149247000-149248600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:149247000-149248600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:149247000-149248600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:149247000-149248600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:149247000-149248600	Strong transcription	Adipose Nuclei	Adipose
36	chr2:149247000-149248600	Strong transcription	Brain Anterior Caudate	brain
37	chr2:149247000-149248600	Strong transcription	Brain Germinal Matrix	brain
38	chr2:149247000-149248600	Strong transcription	Fetal Kidney	kidney
39	chr2:149247000-149248600	Strong transcription	Fetal Muscle Leg	muscle
40	chr2:149247000-149248600	Strong transcription	Fetal Thymus	thymus
41	chr2:149247000-149248600	Strong transcription	Ovary	ovary
42	chr2:149247000-149248600	Strong transcription	HSMM	muscle
43	chr2:149247000-149248600	Strong transcription	HSMMtube	muscle
44	chr2:149247000-149248800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:149247000-149248800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:149247000-149248800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:149247000-149248800	Strong transcription	Fetal Intestine Large	intestine
48	chr2:149247000-149248800	Strong transcription	Fetal Intestine Small	intestine
49	chr2:149247000-149248800	Strong transcription	Fetal Lung	lung
50	chr2:149247000-149248800	Strong transcription	Fetal Muscle Trunk	muscle

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