Variant report

Variant	nsv963175
Chromosome Location	chr2:133505742-133512893
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	chr2:133385017..133387688-chr2:133504938..133507093,2	K562	blood:

Extended variants
information (count: 274 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7606532	chr2:133505873-133505874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542922971	chr2:133505912-133505913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144059712	chr2:133505960-133505961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531655275	chr2:133505962-133505963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550966484	chr2:133506043-133506044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147305152	chr2:133506049-133506050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533427085	chr2:133506053-133506054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551627358	chr2:133506077-133506078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72844786	chr2:133506097-133506098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs373556724	chr2:133506141-133506142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189989458	chr2:133506142-133506143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140871824	chr2:133506152-133506153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538150365	chr2:133506177-133506178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556083353	chr2:133506181-133506182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577606055	chr2:133506182-133506183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538722959	chr2:133506201-133506202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553612846	chr2:133506208-133506209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572254138	chr2:133506224-133506225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143152245	chr2:133506244-133506245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561088858	chr2:133506248-133506249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576358891	chr2:133506261-133506262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147482469	chr2:133506277-133506278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10188746	chr2:133506380-133506381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112316592	chr2:133506383-133506384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112745638	chr2:133506387-133506388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112301905	chr2:133506388-133506389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551833851	chr2:133506406-133506407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183007191	chr2:133506418-133506419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111430339	chr2:133506419-133506420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112352903	chr2:133506425-133506426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112880236	chr2:133506428-133506429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374415373	chr2:133506442-133506443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530248812	chr2:133506446-133506447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71413521	chr2:133506452-133506453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs111817985	chr2:133506469-133506470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188629362	chr2:133506491-133506492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193000365	chr2:133506505-133506506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550253605	chr2:133506550-133506551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs118189284	chr2:133506566-133506567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72844788	chr2:133506592-133506593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553745588	chr2:133506639-133506640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80332128	chr2:133506652-133506653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149877184	chr2:133506710-133506711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370308842	chr2:133506711-133506712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6747722	chr2:133506788-133506789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554766191	chr2:133506803-133506804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552510343	chr2:133506809-133506810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151026980	chr2:133506828-133506829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538255493	chr2:133506859-133506860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114585017	chr2:133506916-133506917	Weak transcription 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
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
Oral cancer	21386901	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133489600-133514600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:133500600-133508400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:133503400-133507400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:133506800-133509600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:133507400-133508000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:133507400-133510400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:133507600-133507800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:133508000-133509400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:133508200-133508400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:133508200-133508600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:133508200-133508600	Enhancers	Brain Anterior Caudate	brain
12	chr2:133508200-133508600	Enhancers	Brain Hippocampus Middle	brain
13	chr2:133508200-133509000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:133508400-133508600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:133508400-133508600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:133508400-133508600	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:133508400-133509000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:133508400-133518600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:133508600-133509600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:133508600-133510000	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:133508600-133512000	Weak transcription	Brain Anterior Caudate	brain
22	chr2:133508600-133512200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:133509000-133514400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:133509400-133512600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:133509600-133510600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:133509600-133511600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:133510000-133510400	Enhancers	Brain Hippocampus Middle	brain
28	chr2:133510400-133511800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:133510400-133530600	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:133510600-133512000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:133511200-133512000	Enhancers	Fetal Brain Male	brain
32	chr2:133511400-133511600	Enhancers	Ovary	ovary
33	chr2:133511600-133513000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:133511800-133512800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:133511800-133529000	Weak transcription	Ovary	ovary
36	chr2:133512000-133512200	Enhancers	Brain Anterior Caudate	brain
37	chr2:133512000-133512400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:133512000-133515000	Weak transcription	NHLF	lung
39	chr2:133512200-133512400	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:133512200-133512800	Weak transcription	Brain Anterior Caudate	brain
41	chr2:133512400-133527200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:133512400-133539400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:133512600-133512800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:133512600-133512800	Enhancers	NHDF-Ad	bronchial
45	chr2:133512800-133513000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:133512800-133513000	Enhancers	Brain Anterior Caudate	brain
47	chr2:133512800-133513000	Enhancers	Right Ventricle	heart
48	chr2:133512800-133527200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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