Variant report

Variant	esv1093069
Chromosome Location	chr2:111981137-111982334
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	chr2:111978052..111980710-chr2:111981576..111984099,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77500472	chr2:111981149-111981150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79803864	chr2:111981152-111981153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143985198	chr2:111981163-111981164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535656698	chr2:111981177-111981178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79781547	chr2:111981198-111981199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555640070	chr2:111981199-111981200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574491814	chr2:111981200-111981201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548404182	chr2:111981225-111981226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543123599	chr2:111981257-111981258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556946617	chr2:111981264-111981265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576893560	chr2:111981275-111981276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56344604	chr2:111981302-111981303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75961660	chr2:111981309-111981310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546162066	chr2:111981315-111981316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200422916	chr2:111981324-111981325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74979408	chr2:111981338-111981339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76575594	chr2:111981346-111981347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559684696	chr2:111981373-111981374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377443551	chr2:111981442-111981443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77242683	chr2:111981590-111981591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373264729	chr2:111981644-111981645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371164485	chr2:111981661-111981662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376253986	chr2:111981666-111981667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367650425	chr2:111981716-111981717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371820092	chr2:111981729-111981730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562854957	chr2:111981769-111981770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376576343	chr2:111981770-111981771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111442588	chr2:111981786-111981787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375269784	chr2:111981792-111981793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368082245	chr2:111981813-111981814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530724371	chr2:111981832-111981833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370316219	chr2:111981833-111981834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372319627	chr2:111981855-111981856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375602800	chr2:111981903-111981904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372175869	chr2:111981913-111981914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375538179	chr2:111981933-111981934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372615096	chr2:111981959-111981960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368930681	chr2:111981976-111981977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372531555	chr2:111981981-111981982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376413169	chr2:111982022-111982023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377109908	chr2:111982044-111982045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369339093	chr2:111982128-111982129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201438271	chr2:111982144-111982145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373561371	chr2:111982212-111982213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376699039	chr2:111982220-111982221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542052446	chr2:111982250-111982251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561696644	chr2:111982270-111982271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199634584	chr2:111982273-111982274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531054170	chr2:111982276-111982277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550774988	chr2:111982282-111982283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

Chromatin state (count:21 , 50 per page) page: 1

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	chr2:111979800-111982800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:111979800-111985200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:111979800-111986000	Weak transcription	Spleen	Spleen
16	chr2:111980400-111985400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:111980600-111993000	Weak transcription	Left Ventricle	heart
18	chr2:111980800-111983000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:111980800-111984400	Weak transcription	Liver	Liver
20	chr2:111980800-111993000	Weak transcription	Right Ventricle	heart
21	chr2:111981400-111982800	Weak transcription	Dnd41	blood

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