Variant report

Variant	nsv874993
Chromosome Location	chr2:126769538-126858204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:126782335..126785320-chr2:126789275..126792207,2	K562	blood:
2	chr2:126788578..126790549-chr2:126792869..126795586,2	K562	blood:
3	chr2:126782335..126785320-chr2:126789275..126792207,2	K562	blood:
4	chr2:126788578..126790549-chr2:126792869..126795586,2	K562	blood:

Extended variants
information (count: 1356 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1356 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545296130	chr2:126771402-126771403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs143843509	chr2:126771439-126771440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs183174723	chr2:126771470-126771471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs4972247	chr2:126771474-126771475	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs72860096	chr2:126771478-126771479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs570804636	chr2:126771549-126771550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs561033231	chr2:126771550-126771551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs373005817	chr2:126771581-126771582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs538246278	chr2:126771623-126771624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs4972248	chr2:126771652-126771653	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145865384	chr2:126771691-126771692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs575435652	chr2:126771716-126771717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs78936198	chr2:126771775-126771776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs574796915	chr2:126771789-126771790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs4972249	chr2:126771800-126771801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs377273249	chr2:126771854-126771855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs545819938	chr2:126771855-126771856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs201012499	chr2:126771878-126771879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs566106239	chr2:126771919-126771920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561458171	chr2:126772003-126772004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs149014403	chr2:126772021-126772022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs186787203	chr2:126772070-126772071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs567514058	chr2:126772142-126772143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs529402543	chr2:126772159-126772160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs529930826	chr2:126772188-126772189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs546789069	chr2:126772192-126772193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs115592198	chr2:126776611-126776612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72860102	chr2:126776617-126776618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs56372900	chr2:126776637-126776638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141671970	chr2:126776687-126776688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115080283	chr2:126776698-126776699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143541859	chr2:126776767-126776768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575755250	chr2:126776781-126776782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193213337	chr2:126776783-126776784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182628776	chr2:126776821-126776822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543339335	chr2:126776897-126776898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187755059	chr2:126776935-126776936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528712480	chr2:126776999-126777000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551656251	chr2:126777007-126777008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565407078	chr2:126777008-126777009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530894667	chr2:126777015-126777016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192762870	chr2:126777037-126777038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575592036	chr2:126777097-126777098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148027402	chr2:126777134-126777135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536200115	chr2:126777137-126777138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140833201	chr2:126777155-126777156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76924388	chr2:126777157-126777158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544142173	chr2:126777177-126777178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184105936	chr2:126777215-126777216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543093166	chr2:126777219-126777220	Enhancers	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126771400-126772200	ZNF genes & repeats	HepG2	liver
2	chr2:126776600-126777000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:126776600-126777200	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:126776600-126777400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:126776600-126777400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:126776600-126777600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:126776600-126777800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:126776800-126777200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:126785200-126785400	ZNF genes & repeats	Pancreas	Pancrea
10	chr2:126785400-126786800	Weak transcription	Pancreas	Pancrea
11	chr2:126786600-126787000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:126786600-126787800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:126786600-126789600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:126786800-126787000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:126786800-126787000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:126786800-126787200	Active TSS	Pancreas	Pancrea
17	chr2:126786800-126787400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:126786800-126787800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:126786800-126787800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:126786800-126788000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:126787000-126788800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:126787000-126788800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:126787600-126787800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:126787800-126788600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:126787800-126789200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:126788000-126789000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:126788600-126788800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:126788800-126789400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:126788800-126789400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:126789000-126789400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:126789200-126789400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:126793800-126794000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:126794000-126795200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:126794400-126795800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:126794800-126795800	Enhancers	Primary hematopoietic stem cells	blood
36	chr2:126795200-126797400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:126795600-126796200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr2:126795800-126796200	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr2:126795800-126796400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:126795800-126797400	Enhancers	Fetal Heart	heart
41	chr2:126796000-126797200	Enhancers	Primary B cells from cord blood	blood
42	chr2:126796200-126797200	Enhancers	Primary B cells from peripheral blood	blood
43	chr2:126796200-126797200	Enhancers	Primary hematopoietic stem cells	blood
44	chr2:126796400-126797200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:126797200-126798400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:126797400-126799000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:126798400-126800000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:126799000-126799400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:126799000-126799400	Enhancers	Brain Germinal Matrix	brain
50	chr2:126799000-126800000	Enhancers	Liver	Liver

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