Variant report

Variant	nsv583014
Chromosome Location	chr2:127450911-127455669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127452820..127454923-chr2:127455408..127457651,2	K562	blood:
2	chr2:127440013..127442980-chr2:127454337..127456567,2	K562	blood:
3	chr2:127453953..127456073-chr2:127458939..127461273,3	K562	blood:
4	chr2:127452820..127454923-chr2:127455408..127457651,2	K562	blood:

Variant related genes	Relation type
ENSG00000206963	chromatin interactions

Extended variants
information (count: 300 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:300 , 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	rs28369998	chr2:127450911-127450912	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140358853	chr2:127450917-127450918	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4450550	chr2:127450918-127450919	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191939894	chr2:127450929-127450930	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35404054	chr2:127450963-127450964	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28369999	chr2:127450971-127450972	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34638539	chr2:127450987-127450988	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35291291	chr2:127451004-127451005	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs36064062	chr2:127451034-127451035	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34686083	chr2:127451039-127451040	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553778716	chr2:127451041-127451042	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111479968	chr2:127451045-127451046	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183408464	chr2:127451089-127451090	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576879115	chr2:127451094-127451095	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187353686	chr2:127451098-127451099	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556252928	chr2:127451151-127451152	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576159285	chr2:127451157-127451158	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542005053	chr2:127451187-127451188	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561876063	chr2:127451217-127451218	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572289812	chr2:127451242-127451243	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540261787	chr2:127451250-127451251	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113636459	chr2:127451275-127451276	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190719273	chr2:127451286-127451287	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532339926	chr2:127451289-127451290	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545904018	chr2:127451304-127451305	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182550193	chr2:127451306-127451307	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187917972	chr2:127451307-127451308	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560591994	chr2:127451309-127451310	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548745774	chr2:127451318-127451319	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112939870	chr2:127451338-127451339	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148779992	chr2:127451361-127451362	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528010402	chr2:127451366-127451367	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192963041	chr2:127451372-127451373	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184325205	chr2:127451385-127451386	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370605379	chr2:127451387-127451388	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556342797	chr2:127451392-127451393	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375788056	chr2:127451397-127451398	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142452859	chr2:127451399-127451400	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368196057	chr2:127451401-127451402	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151338263	chr2:127451407-127451408	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375893366	chr2:127451416-127451417	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557035366	chr2:127451435-127451436	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367719773	chr2:127451437-127451438	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371527725	chr2:127451448-127451449	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28387218	chr2:127451450-127451451	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142432082	chr2:127451457-127451458	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139780142	chr2:127451467-127451468	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557592062	chr2:127451468-127451469	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199797395	chr2:127451470-127451471	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545780841	chr2:127451473-127451474	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:217 , 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	chr2:127444000-127456400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:127444000-127458200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:127444200-127451400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:127444600-127451200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:127445200-127456000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:127445400-127451200	Weak transcription	Fetal Thymus	thymus
23	chr2:127445400-127451400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:127445400-127456400	Strong transcription	Stomach Smooth Muscle	stomach
25	chr2:127446000-127451400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
26	chr2:127446000-127451400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:127446000-127451600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr2:127446000-127451800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:127446000-127454600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:127446200-127451200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:127446400-127453400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:127446400-127456200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:127446400-127456200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr2:127446600-127456600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:127446800-127451200	Weak transcription	HSMMtube	muscle
36	chr2:127446800-127458200	Weak transcription	NHDF-Ad	bronchial
37	chr2:127447400-127455800	Strong transcription	Ovary	ovary
38	chr2:127447400-127456200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:127447400-127457000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:127447600-127456000	Strong transcription	Fetal Lung	lung
41	chr2:127447600-127456200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:127447600-127456200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:127447600-127456200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:127447600-127456400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:127447600-127456800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:127447800-127451200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:127447800-127451200	Strong transcription	Fetal Stomach	stomach
48	chr2:127448000-127451200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:127448000-127451400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:127448000-127452400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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