Variant report

Variant	nsv977138
Chromosome Location	chr12:62199079-62211306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62199096..62201895-chr12:62204171..62205825,2	K562	blood:
2	chr12:62202859..62205384-chr12:62210206..62212570,2	MCF-7	breast:
3	chr12:62198235..62200849-chr19:59029666..59031428,2	MCF-7	breast:
4	chr12:62199096..62201895-chr12:62204171..62205825,2	K562	blood:
5	chr12:62202859..62205384-chr12:62210206..62212570,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119574	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561171838	chr12:62199092-62199093	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs7957748	chr12:62199111-62199112	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369501637	chr12:62199163-62199164	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572374822	chr12:62199179-62199180	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541040627	chr12:62199204-62199205	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184799411	chr12:62199206-62199207	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530184453	chr12:62199214-62199215	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144318873	chr12:62199270-62199271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs74699120	chr12:62199287-62199288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531512353	chr12:62199309-62199310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77985092	chr12:62199396-62199397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189197345	chr12:62199412-62199413	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2168452	chr12:62199422-62199423	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs144320553	chr12:62199467-62199468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs79298479	chr12:62199478-62199479	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536004109	chr12:62199497-62199498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181553077	chr12:62199504-62199505	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35437588	chr12:62199551-62199552	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs556205956	chr12:62199667-62199668	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576586815	chr12:62199803-62199804	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs73324077	chr12:62199804-62199805	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369578108	chr12:62199833-62199834	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs76034538	chr12:62199884-62199885	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546530421	chr12:62199905-62199906	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs80129918	chr12:62199915-62199916	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373224557	chr12:62199930-62199931	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs148770956	chr12:62199971-62199972	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560990912	chr12:62199982-62199983	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs74474204	chr12:62200000-62200001	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543580494	chr12:62200005-62200006	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2219260	chr12:62200071-62200072	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs185099855	chr12:62200093-62200094	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12300354	chr12:62200105-62200106	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142454913	chr12:62200151-62200152	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2198781	chr12:62200201-62200202	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537515201	chr12:62200228-62200229	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547704840	chr12:62200276-62200277	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs189476329	chr12:62200297-62200298	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182223388	chr12:62200307-62200308	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549480042	chr12:62200319-62200320	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569746826	chr12:62200340-62200341	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs114212969	chr12:62200365-62200366	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558774831	chr12:62200366-62200367	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2198780	chr12:62200424-62200425	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs139437754	chr12:62200431-62200432	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs145054322	chr12:62200487-62200488	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575004430	chr12:62200536-62200537	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543816761	chr12:62200550-62200551	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186011290	chr12:62200552-62200553	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571704807	chr12:62200583-62200584	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62199800-62200000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:62199800-62203000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:62200600-62201800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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