Variant report

Variant	esv3415963
Chromosome Location	chr2:112265662-112271150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL2L11-3	chr2:112268201-112268567	XLOC_001625

Extended variants
information (count: 180 )
Associated
traits (count: 70 )

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	rs528477441	chr2:112265707-112265708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143193053	chr2:112265837-112265838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538669786	chr2:112265838-112265839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559021379	chr2:112265843-112265844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140650351	chr2:112265895-112265896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535168144	chr2:112265929-112265930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113409257	chr2:112266000-112266001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573758227	chr2:112266050-112266051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112019650	chr2:112266062-112266063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184479478	chr2:112266107-112266108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556200984	chr2:112266128-112266129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575965652	chr2:112266159-112266160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112578644	chr2:112266178-112266179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564571846	chr2:112266252-112266253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527375964	chr2:112266282-112266283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540773100	chr2:112266304-112266305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561096324	chr2:112266371-112266372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58855277	chr2:112266409-112266410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74182839	chr2:112266510-112266511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189748745	chr2:112266565-112266566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71413355	chr2:112266578-112266579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532876463	chr2:112266604-112266605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192742459	chr2:112266619-112266620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71413356	chr2:112266624-112266625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535075332	chr2:112266625-112266626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149200057	chr2:112266628-112266629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555219183	chr2:112266656-112266657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567420190	chr2:112266712-112266713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113156542	chr2:112266753-112266754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536079969	chr2:112266803-112266804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556353533	chr2:112266862-112266863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144799259	chr2:112266893-112266894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185142852	chr2:112266894-112266895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189107762	chr2:112266895-112266896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201093223	chr2:112266913-112266914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571708281	chr2:112266926-112266927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181768659	chr2:112266968-112266969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540682435	chr2:112266987-112266988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560833657	chr2:112266997-112266998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184898676	chr2:112267005-112267006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543641034	chr2:112267204-112267205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563949507	chr2:112267244-112267245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532854099	chr2:112267300-112267301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62162283	chr2:112267307-112267308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559744617	chr2:112267308-112267309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528512755	chr2:112267310-112267311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534331938	chr2:112267404-112267405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71413357	chr2:112267407-112267408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189605774	chr2:112267408-112267409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537585555	chr2:112267429-112267430	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112255600-112270200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:112262800-112270200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:112265000-112267600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:112265400-112267800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:112267600-112269400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:112267800-112268400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr2:112268400-112268600	Enhancers	Placenta	Placenta
8	chr2:112268400-112268800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr2:112268400-112269400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:112268600-112269000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:112268600-112279600	Weak transcription	Placenta	Placenta
12	chr2:112268800-112269200	Active TSS	Monocytes-CD14+_RO01746	blood
13	chr2:112269200-112270000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:112269400-112269800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:112269800-112272800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:112270000-112270800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:112270000-112272800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:112270200-112270600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:112270200-112270600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:112270200-112270600	Enhancers	Colon Smooth Muscle	Colon
21	chr2:112270200-112270600	Enhancers	Fetal Lung	lung
22	chr2:112270200-112270600	Enhancers	Fetal Muscle Trunk	muscle
23	chr2:112270200-112270600	Enhancers	Left Ventricle	heart
24	chr2:112270200-112270600	Enhancers	Right Ventricle	heart
25	chr2:112270200-112270600	Enhancers	NHEK	skin
26	chr2:112270200-112270800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:112270200-112270800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:112270200-112270800	Enhancers	Adipose Nuclei	Adipose
29	chr2:112270200-112270800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:112270200-112271000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:112270200-112271400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:112270400-112270800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:112270400-112270800	Enhancers	Fetal Stomach	stomach
34	chr2:112270400-112270800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr2:112270600-112272000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:112270600-112272400	Weak transcription	Left Ventricle	heart
37	chr2:112270600-112280600	Weak transcription	Right Ventricle	heart
38	chr2:112270800-112286200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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