Variant report

Variant	nsv875009
Chromosome Location	chr2:127447393-127452219
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: 303 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:303 , 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	rs28387200	chr2:127447393-127447394	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183929068	chr2:127447396-127447397	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372939007	chr2:127447399-127447400	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570316771	chr2:127447451-127447452	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528943444	chr2:127447460-127447461	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374428579	chr2:127447470-127447471	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28369995	chr2:127447475-127447476	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145649458	chr2:127447478-127447479	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188722346	chr2:127447507-127447508	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557533566	chr2:127447528-127447529	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571118859	chr2:127447542-127447543	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192416768	chr2:127447553-127447554	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556880694	chr2:127447565-127447566	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183030209	chr2:127447590-127447591	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370959244	chr2:127447622-127447623	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370494981	chr2:127447668-127447669	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558391968	chr2:127447705-127447706	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28387202	chr2:127447718-127447719	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575181939	chr2:127447721-127447722	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6709803	chr2:127447763-127447764	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541533005	chr2:127447767-127447768	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564533536	chr2:127447769-127447770	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28387203	chr2:127447772-127447773	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149219236	chr2:127447790-127447791	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564013003	chr2:127447818-127447819	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370068922	chr2:127447821-127447822	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112389794	chr2:127447828-127447829	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112998240	chr2:127447829-127447830	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143216051	chr2:127447840-127447841	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56070638	chr2:127447841-127447842	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200302327	chr2:127447856-127447857	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374806492	chr2:127447858-127447859	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144320100	chr2:127447873-127447874	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191646209	chr2:127447880-127447881	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200793009	chr2:127447884-127447885	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376620287	chr2:127447905-127447906	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370402856	chr2:127447928-127447929	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371398286	chr2:127447929-127447930	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377146080	chr2:127447933-127447934	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs36131739	chr2:127447963-127447964	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs36162775	chr2:127447977-127447978	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs36164874	chr2:127447983-127447984	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184185285	chr2:127447998-127447999	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140487659	chr2:127448006-127448007	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536885375	chr2:127448014-127448015	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370187059	chr2:127448024-127448025	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs36181737	chr2:127448026-127448027	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs36134089	chr2:127448030-127448031	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550344030	chr2:127448064-127448065	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77789076	chr2:127448092-127448093	Weak transcription ZNF genes & repeats Strong transcription 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:269 , 50 per page) page: 1 2 3 4 5 6

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	chr2:127424600-127447600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:127433600-127451400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:127433800-127452600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:127434000-127451000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:127434000-127451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:127434800-127453000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:127434800-127453200	Weak transcription	Placenta	Placenta
11	chr2:127435200-127457400	Weak transcription	Fetal Kidney	kidney
12	chr2:127435400-127452800	Weak transcription	Fetal Intestine Large	intestine
13	chr2:127439000-127447600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:127439800-127457600	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:127440400-127447400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:127440400-127451200	Weak transcription	Esophagus	oesophagus
17	chr2:127440600-127447400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:127442000-127447800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:127442000-127456800	Weak transcription	Osteobl	bone
20	chr2:127442400-127447600	Weak transcription	Aorta	Aorta
21	chr2:127443400-127452600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:127443600-127447600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:127443600-127458800	Strong transcription	Primary T cells from cord blood	blood
24	chr2:127443800-127447600	Weak transcription	Fetal Lung	lung
25	chr2:127443800-127447800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:127443800-127448800	Weak transcription	Thymus	Thymus
27	chr2:127444000-127447400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:127444000-127447400	Weak transcription	Ovary	ovary
29	chr2:127444000-127447600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:127444000-127448800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:127444000-127456400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:127444000-127458200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:127444200-127447600	Weak transcription	Spleen	Spleen
34	chr2:127444200-127451400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:127444400-127447400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:127444400-127447600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:127444400-127447600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:127444400-127449800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:127444600-127447600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:127444600-127449600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:127444600-127451200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:127444800-127447400	Weak transcription	Lung	lung
43	chr2:127444800-127447800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:127445000-127448200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:127445200-127447400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:127445200-127456000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:127445400-127447400	Weak transcription	Fetal Stomach	stomach
48	chr2:127445400-127447800	Strong transcription	Primary B cells from cord blood	blood
49	chr2:127445400-127451200	Weak transcription	Fetal Thymus	thymus
50	chr2:127445400-127451400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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