Variant report

Variant	nsv875010
Chromosome Location	chr2:127447829-127452764
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	chr2:127448304..127450684-chr2:127460998..127463238,2	K562	blood:
2	chr2:127437217..127440041-chr2:127447833..127449448,2	K562	blood:

Extended variants
information (count: 308 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112998240	chr2:127447829-127447830	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143216051	chr2:127447840-127447841	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56070638	chr2:127447841-127447842	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200302327	chr2:127447856-127447857	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374806492	chr2:127447858-127447859	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144320100	chr2:127447873-127447874	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191646209	chr2:127447880-127447881	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200793009	chr2:127447884-127447885	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376620287	chr2:127447905-127447906	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370402856	chr2:127447928-127447929	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371398286	chr2:127447929-127447930	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377146080	chr2:127447933-127447934	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs36131739	chr2:127447963-127447964	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs36162775	chr2:127447977-127447978	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs36164874	chr2:127447983-127447984	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184185285	chr2:127447998-127447999	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140487659	chr2:127448006-127448007	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536885375	chr2:127448014-127448015	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370187059	chr2:127448024-127448025	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs36181737	chr2:127448026-127448027	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs36134089	chr2:127448030-127448031	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550344030	chr2:127448064-127448065	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77789076	chr2:127448092-127448093	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35850561	chr2:127448094-127448095	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186673784	chr2:127448102-127448103	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192381954	chr2:127448126-127448127	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552958379	chr2:127448130-127448131	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28387204	chr2:127448153-127448154	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs4614875	chr2:127448162-127448163	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538443	chr2:127448167-127448168	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374472357	chr2:127448174-127448175	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28387205	chr2:127448186-127448187	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs389735	chr2:127448214-127448215	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558333361	chr2:127448224-127448225	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578139856	chr2:127448248-127448249	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs423576	chr2:127448276-127448277	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563851790	chr2:127448306-127448307	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28387206	chr2:127448345-127448346	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs543312244	chr2:127448346-127448347	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs423617	chr2:127448348-127448349	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs399291	chr2:127448376-127448377	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528132320	chr2:127448381-127448382	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550953265	chr2:127448387-127448388	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575762223	chr2:127448412-127448413	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74499727	chr2:127448415-127448416	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530499211	chr2:127448421-127448422	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561248083	chr2:127448492-127448493	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550235345	chr2:127448495-127448496	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567470538	chr2:127448508-127448509	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368055754	chr2:127448604-127448605	Weak transcription Strong transcription 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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	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
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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
2	chr2:127424200-127451000	Weak transcription	NHLF	lung
3	chr2:127433600-127451400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:127433800-127452600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:127434000-127451000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:127434000-127451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:127434800-127453000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:127434800-127453200	Weak transcription	Placenta	Placenta
10	chr2:127435200-127457400	Weak transcription	Fetal Kidney	kidney
11	chr2:127435400-127452800	Weak transcription	Fetal Intestine Large	intestine
12	chr2:127439800-127457600	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:127440400-127451200	Weak transcription	Esophagus	oesophagus
14	chr2:127442000-127456800	Weak transcription	Osteobl	bone
15	chr2:127443400-127452600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:127443600-127458800	Strong transcription	Primary T cells from cord blood	blood
17	chr2:127443800-127448800	Weak transcription	Thymus	Thymus
18	chr2:127444000-127448800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:127444000-127456400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:127444000-127458200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:127444200-127451400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:127444400-127449800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:127444600-127449600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:127444600-127451200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:127445000-127448200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:127445200-127456000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:127445400-127451200	Weak transcription	Fetal Thymus	thymus
28	chr2:127445400-127451400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:127445400-127456400	Strong transcription	Stomach Smooth Muscle	stomach
30	chr2:127446000-127451400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
31	chr2:127446000-127451400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:127446000-127451600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr2:127446000-127451800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:127446000-127454600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:127446200-127450200	Weak transcription	Pancreas	Pancrea
36	chr2:127446200-127451200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:127446400-127453400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:127446400-127456200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:127446400-127456200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr2:127446600-127456600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:127446800-127448200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:127446800-127449000	Weak transcription	K562	blood
43	chr2:127446800-127449600	Weak transcription	Fetal Heart	heart
44	chr2:127446800-127449600	Weak transcription	Psoas Muscle	Psoas
45	chr2:127446800-127451200	Weak transcription	HSMMtube	muscle
46	chr2:127446800-127458200	Weak transcription	NHDF-Ad	bronchial
47	chr2:127447400-127448000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:127447400-127448000	ZNF genes & repeats	Lung	lung
49	chr2:127447400-127448200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:127447400-127448200	Strong transcription	Adipose Nuclei	Adipose

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