Variant report

Variant	nsv962078
Chromosome Location	chr2:134055706-134061832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs535883187	chr2:134055714-134055715	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367562568	chr2:134055753-134055754	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534718455	chr2:134055816-134055817	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143192069	chr2:134055818-134055819	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574363072	chr2:134055829-134055830	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541493623	chr2:134055844-134055845	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143731124	chr2:134055861-134055862	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575185875	chr2:134055919-134055920	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs16823394	chr2:134055974-134055975	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs185863990	chr2:134056005-134056006	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532557114	chr2:134056102-134056103	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541515180	chr2:134056112-134056113	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551220853	chr2:134056173-134056174	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559633378	chr2:134056267-134056268	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191158122	chr2:134056303-134056304	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547768709	chr2:134056332-134056333	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570336398	chr2:134056333-134056334	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569759473	chr2:134056371-134056372	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552756511	chr2:134056434-134056435	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536713551	chr2:134056466-134056467	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182947179	chr2:134056536-134056537	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534945068	chr2:134056564-134056565	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187177417	chr2:134056565-134056566	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558726757	chr2:134056572-134056573	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535399808	chr2:134056582-134056583	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190107516	chr2:134056584-134056585	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182732300	chr2:134056602-134056603	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187461723	chr2:134056608-134056609	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370598080	chr2:134056611-134056612	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557679960	chr2:134056692-134056693	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374878175	chr2:134056715-134056716	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572986749	chr2:134056829-134056830	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193063580	chr2:134056875-134056876	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77376155	chr2:134056876-134056877	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184190786	chr2:134056896-134056897	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530158606	chr2:134056978-134056979	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542172586	chr2:134057007-134057008	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187571546	chr2:134057017-134057018	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530972888	chr2:134057036-134057037	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552895282	chr2:134057046-134057047	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571195624	chr2:134057085-134057086	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200547437	chr2:134057110-134057111	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528662246	chr2:134057134-134057135	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368589149	chr2:134057165-134057166	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113303341	chr2:134057173-134057174	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192811131	chr2:134057180-134057181	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369832812	chr2:134057188-134057189	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72987646	chr2:134057189-134057190	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556489363	chr2:134057194-134057195	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553346879	chr2:134057215-134057216	Strong transcription Weak 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
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
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134046000-134060600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:134052400-134060600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:134052800-134060600	Weak transcription	NHLF	lung
4	chr2:134053400-134057600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:134054000-134060400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:134054600-134056200	Enhancers	NHDF-Ad	bronchial
7	chr2:134055400-134060600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:134056000-134056800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:134056200-134060400	Weak transcription	NHDF-Ad	bronchial
10	chr2:134056800-134057000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:134057000-134067800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:134057600-134060400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:134060400-134060800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:134060400-134061200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:134060400-134061600	Enhancers	NHDF-Ad	bronchial
16	chr2:134060400-134061800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:134060600-134060800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:134060600-134061000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:134060600-134061200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:134060600-134061400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:134060600-134061400	Enhancers	A549	lung
22	chr2:134060600-134061600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:134060600-134061600	Enhancers	NHLF	lung
24	chr2:134061200-134061600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:134061600-134062000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:134061800-134062600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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