Variant report

Variant	nsv1006723
Chromosome Location	chr2:133282021-133302575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 871 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:871 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368474516	chr2:133282060-133282061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4401256	chr2:133282065-133282066	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115662480	chr2:133282072-133282073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542059933	chr2:133282099-133282100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570321170	chr2:133282100-133282101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528645994	chr2:133282181-133282182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545688904	chr2:133282187-133282188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563443901	chr2:133282197-133282198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530882845	chr2:133282198-133282199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549887016	chr2:133282203-133282204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147818225	chr2:133282242-133282243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184214155	chr2:133282262-133282263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572887562	chr2:133282305-133282306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141303985	chr2:133282339-133282340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201874686	chr2:133282360-133282361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189335261	chr2:133282376-133282377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374698922	chr2:133282382-133282383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536456591	chr2:133282386-133282387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72983623	chr2:133282450-133282451	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs115230778	chr2:133282498-133282499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180889710	chr2:133282499-133282500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576926778	chr2:133282590-133282591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534678935	chr2:133282608-133282609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185300479	chr2:133282677-133282678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367993187	chr2:133282708-133282709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190113496	chr2:133282744-133282745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376368807	chr2:133282832-133282833	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs17395848	chr2:133282876-133282877	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs529346131	chr2:133282887-133282888	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs112044138	chr2:133282913-133282914	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs575434219	chr2:133282922-133282923	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs146961030	chr2:133282942-133282943	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs372188570	chr2:133282943-133282944	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs137968718	chr2:133282961-133282962	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs532376683	chr2:133282962-133282963	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs541087739	chr2:133283007-133283008	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs181546173	chr2:133283028-133283029	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs12618338	chr2:133283054-133283055	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs369703186	chr2:133283086-133283087	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs186022246	chr2:133283111-133283112	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs570262559	chr2:133283128-133283129	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs531075373	chr2:133283180-133283181	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs367619765	chr2:133283181-133283182	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs552925814	chr2:133283185-133283186	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs570414630	chr2:133283204-133283205	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534610459	chr2:133283243-133283244	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115199072	chr2:133283244-133283245	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs16833598	chr2:133283250-133283251	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs34972046	chr2:133283289-133283290	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376633823	chr2:133283311-133283312	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	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
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	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133268200-133282800	Weak transcription	Fetal Intestine Small	intestine
2	chr2:133274400-133283200	Weak transcription	Pancreas	Pancrea
3	chr2:133279000-133282600	Enhancers	Fetal Brain Male	brain
4	chr2:133279200-133283000	Weak transcription	Fetal Heart	heart
5	chr2:133281400-133296400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:133282000-133284600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:133282800-133284800	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr2:133283000-133283800	Enhancers	Fetal Heart	heart
9	chr2:133283200-133283400	Genic enhancers	Pancreas	Pancrea
10	chr2:133283400-133283800	Weak transcription	Pancreas	Pancrea
11	chr2:133295600-133297400	Enhancers	Fetal Heart	heart
12	chr2:133295800-133296000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:133295800-133296400	Enhancers	Placenta	Placenta
14	chr2:133295800-133296600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:133295800-133297000	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr2:133296000-133296600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:133296000-133296800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:133296000-133299000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:133296400-133296600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr2:133296400-133296600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:133296600-133300200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:133296600-133301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:133296800-133297400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:133297200-133298200	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr2:133297400-133297600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:133297400-133301000	Weak transcription	Gastric	stomach
27	chr2:133297800-133298200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:133297800-133299600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:133299000-133303400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:133299200-133302800	Enhancers	Placenta	Placenta
31	chr2:133299600-133300600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:133300200-133302000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:133300400-133301000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr2:133300400-133301000	Enhancers	A549	lung
35	chr2:133300400-133301200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:133300400-133301400	Enhancers	HMEC	breast
37	chr2:133300400-133301400	ZNF genes & repeats	NHEK	skin
38	chr2:133300400-133302400	ZNF genes & repeats	Liver	Liver
39	chr2:133300600-133301200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:133300600-133301200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:133300600-133302600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:133300800-133302000	Enhancers	Stomach Mucosa	stomach
43	chr2:133301000-133301400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:133301000-133301400	Enhancers	Gastric	stomach
45	chr2:133301200-133301600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:133301200-133303000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:133301400-133301800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr2:133301400-133302000	Weak transcription	Gastric	stomach
49	chr2:133301400-133302400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:133301600-133308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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