Variant report

Variant	esv3505141
Chromosome Location	chr2:111980472-111983485
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111978052..111980710-chr2:111981576..111984099,2	K562	blood:
2	chr2:111982529..111984257-chr2:111985770..111989287,4	K562	blood:
3	chr2:111978052..111980710-chr2:111981576..111984099,2	K562	blood:

Extended variants
information (count: 183 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:183 , 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	rs150116659	chr2:111980484-111980485	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552418028	chr2:111980525-111980526	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540286778	chr2:111980550-111980551	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553175255	chr2:111980580-111980581	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116786183	chr2:111980581-111980582	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535151982	chr2:111980594-111980595	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548689169	chr2:111980615-111980616	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369754421	chr2:111980617-111980618	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138361464	chr2:111980644-111980645	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557023328	chr2:111980657-111980658	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577474177	chr2:111980661-111980662	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190555194	chr2:111980699-111980700	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553172049	chr2:111980713-111980714	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573078993	chr2:111980714-111980715	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372145071	chr2:111980724-111980725	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540760684	chr2:111980775-111980776	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12988362	chr2:111980791-111980792	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142708798	chr2:111980820-111980821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78295058	chr2:111980832-111980833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71431156	chr2:111980842-111980843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369936369	chr2:111980860-111980861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13022269	chr2:111980862-111980863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188096718	chr2:111980885-111980886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71431157	chr2:111980897-111980898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75114962	chr2:111980905-111980906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532460525	chr2:111980910-111980911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112635801	chr2:111980924-111980925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552479994	chr2:111980931-111980932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12478796	chr2:111980932-111980933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71431158	chr2:111980960-111980961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71431159	chr2:111980968-111980969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78889169	chr2:111980973-111980974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200616977	chr2:111980982-111980983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12477250	chr2:111980988-111980989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548745300	chr2:111980994-111980995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568541539	chr2:111981022-111981023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79311242	chr2:111981023-111981024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537107601	chr2:111981027-111981028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12474085	chr2:111981031-111981032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61023847	chr2:111981072-111981073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78158088	chr2:111981086-111981087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80234036	chr2:111981089-111981090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550966687	chr2:111981096-111981097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570727397	chr2:111981110-111981111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78822596	chr2:111981120-111981121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539771220	chr2:111981121-111981122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553235634	chr2:111981136-111981137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77500472	chr2:111981149-111981150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79803864	chr2:111981152-111981153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143985198	chr2:111981163-111981164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111954800-112006800	Weak transcription	HUVEC	blood vessel
2	chr2:111972400-111984400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:111972800-111982800	Weak transcription	HepG2	liver
4	chr2:111974800-111984800	Weak transcription	NHDF-Ad	bronchial
5	chr2:111975000-111985600	Weak transcription	Esophagus	oesophagus
6	chr2:111975200-112008200	Weak transcription	Pancreas	Pancrea
7	chr2:111975400-111982800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:111975400-111983000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:111977400-111984600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:111977600-111984400	Weak transcription	HSMMtube	muscle
11	chr2:111977600-112011400	Weak transcription	A549	lung
12	chr2:111977800-111982800	Weak transcription	HSMM	muscle
13	chr2:111979000-111980600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:111979000-111980800	Enhancers	Liver	Liver
15	chr2:111979400-111980600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr2:111979400-111980600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:111979600-111980800	Enhancers	Adipose Nuclei	Adipose
18	chr2:111979600-111980800	Enhancers	Right Atrium	heart
19	chr2:111979800-111982800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:111979800-111985200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:111979800-111986000	Weak transcription	Spleen	Spleen
22	chr2:111980200-111980800	Enhancers	Right Ventricle	heart
23	chr2:111980400-111980600	Enhancers	Left Ventricle	heart
24	chr2:111980400-111980800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr2:111980400-111985400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:111980600-111993000	Weak transcription	Left Ventricle	heart
27	chr2:111980800-111983000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:111980800-111984400	Weak transcription	Liver	Liver
29	chr2:111980800-111993000	Weak transcription	Right Ventricle	heart
30	chr2:111981400-111982800	Weak transcription	Dnd41	blood
31	chr2:111982800-111983200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:111982800-111983400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:111982800-111983400	ZNF genes & repeats	HSMM	muscle
34	chr2:111982800-111983600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:111982800-111983800	ZNF genes & repeats	HepG2	liver
36	chr2:111982800-111984200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:111982800-111984200	ZNF genes & repeats	Dnd41	blood
38	chr2:111983000-111983200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:111983000-111983400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr2:111983200-111983400	ZNF genes & repeats	GM12878-XiMat	blood
41	chr2:111983200-111984400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:111983200-111985200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:111983400-111983600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:111983400-111983600	Strong transcription	HSMM	muscle
45	chr2:111983400-111984000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:111983400-111984000	ZNF genes & repeats	K562	blood
47	chr2:111983400-111984200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:111983400-111985000	Enhancers	GM12878-XiMat	blood
49	chr2:111983400-111985400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:111983400-111985800	Enhancers	NHEK	skin

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