Variant report

Variant	nsv558842
Chromosome Location	chr12:50972136-50975386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50975357..50978309-chr12:50978600..50980737,2	K562	blood:
2	chr12:50974754..50976788-chr12:50985941..50989901,3	MCF-7	breast:
3	chr12:50963922..50966119-chr12:50973720..50976501,2	MCF-7	breast:
4	chr12:50924992..50927845-chr12:50972241..50975233,2	MCF-7	breast:
5	chr12:50919251..50921219-chr12:50974767..50977013,2	MCF-7	breast:
6	chr12:50972721..50975005-chr12:51156216..51157779,2	MCF-7	breast:
7	chr12:50972078..50973686-chr12:51157713..51159257,2	K562	blood:
8	chr12:50973790..50975589-chr12:50979477..50982440,2	MCF-7	breast:
9	chr12:50974097..50976860-chr12:51155046..51157594,2	MCF-7	breast:
10	chr12:50961060..50963174-chr12:50973833..50976481,2	MCF-7	breast:
11	chr12:50970224..50973931-chr12:50975252..50979734,4	MCF-7	breast:
12	chr12:50973996..50977053-chr12:50977194..50979673,3	MCF-7	breast:
13	chr12:50974887..50977469-chr12:51012857..51015766,3	MCF-7	breast:
14	chr12:50973979..50976902-chr12:51009398..51011703,2	MCF-7	breast:
15	chr12:50972299..50974620-chr12:51011997..51014458,2	MCF-7	breast:
16	chr12:50970224..50973931-chr12:50975252..50979734,4	MCF-7	breast:
17	chr12:50964684..50966420-chr12:50974065..50976382,2	MCF-7	breast:
18	chr12:50897706..50899944-chr12:50973208..50975379,4	MCF-7	breast:
19	chr12:50974915..50976857-chr12:50978600..50980892,2	K562	blood:
20	chr12:50958807..50961087-chr12:50974320..50976145,2	K562	blood:
21	chr12:50965666..50967563-chr12:50973040..50975436,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000066084	chromatin interactions
ENSG00000123268	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12312308	chr12:50972136-50972137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553848552	chr12:50972186-50972187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539852743	chr12:50972238-50972239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545678006	chr12:50972260-50972261	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370298348	chr12:50972287-50972288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs62685162	chr12:50972308-50972309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571960175	chr12:50972313-50972314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12425362	chr12:50972319-50972320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs372529548	chr12:50972330-50972331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576313599	chr12:50972381-50972382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs544683353	chr12:50972383-50972384	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs10876064	chr12:50972448-50972449	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530093575	chr12:50972458-50972459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183507774	chr12:50972512-50972513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs4768895	chr12:50972537-50972538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs61927826	chr12:50972580-50972581	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4768896	chr12:50972586-50972587	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs372468563	chr12:50972640-50972641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs142401632	chr12:50972667-50972668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs138627966	chr12:50972686-50972687	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186432573	chr12:50972703-50972704	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531615956	chr12:50972754-50972755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141129858	chr12:50972764-50972765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs146947203	chr12:50972776-50972777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577966199	chr12:50972801-50972802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs190948828	chr12:50972824-50972825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138004098	chr12:50972833-50972834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111830055	chr12:50972856-50972857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76457071	chr12:50972884-50972885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs539680129	chr12:50972887-50972888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561908961	chr12:50972903-50972904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576276108	chr12:50972910-50972911	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs4768897	chr12:50972947-50972948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs141708080	chr12:50972968-50972969	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575024369	chr12:50973024-50973025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs182894039	chr12:50973032-50973033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150661966	chr12:50973036-50973037	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577175940	chr12:50973133-50973134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs187450597	chr12:50973198-50973199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs527654755	chr12:50973206-50973207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549232836	chr12:50973210-50973211	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs562873057	chr12:50973224-50973225	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs192961228	chr12:50973242-50973243	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs561462628	chr12:50973278-50973279	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs113303912	chr12:50973357-50973358	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs149421136	chr12:50973378-50973379	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs71466981	chr12:50973413-50973414	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs66790066	chr12:50973415-50973416	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs561444522	chr12:50973447-50973448	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs199954088	chr12:50973473-50973474	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50949400-50973600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:50959000-50976800	Weak transcription	Primary T cells from cord blood	blood
3	chr12:50962400-50973600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:50962400-50983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:50966200-50973400	Weak transcription	Primary B cells from cord blood	blood
6	chr12:50966800-50975600	Weak transcription	HSMM	muscle
7	chr12:50967200-50978400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:50967200-50983000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:50967400-50973600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:50967400-50991200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:50967400-50991200	Weak transcription	Aorta	Aorta
12	chr12:50967600-50972600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:50967600-50972600	Weak transcription	Fetal Heart	heart
14	chr12:50967600-50972800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:50967600-50973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:50968200-50973600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:50968400-50976400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:50968600-50972800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:50968600-50973600	Weak transcription	Gastric	stomach
20	chr12:50968600-50973600	Weak transcription	NH-A	brain
21	chr12:50968600-50983000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:50968800-50972800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:50968800-50974600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:50968800-50974800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:50968800-50982200	Weak transcription	Fetal Brain Female	brain
26	chr12:50968800-50989000	Weak transcription	Fetal Intestine Small	intestine
27	chr12:50968800-50997400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:50969000-50973600	Weak transcription	Stomach Mucosa	stomach
29	chr12:50969000-50983200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:50969000-50983400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:50969200-50973000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:50969200-50973000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:50969200-50973000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:50969200-50973600	Weak transcription	Small Intestine	intestine
35	chr12:50969200-50973600	Weak transcription	NHDF-Ad	bronchial
36	chr12:50969200-50973600	Weak transcription	Osteobl	bone
37	chr12:50969200-50973800	Weak transcription	Brain Germinal Matrix	brain
38	chr12:50969200-50974400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:50969400-50972600	Weak transcription	Fetal Brain Male	brain
40	chr12:50969400-50972600	Weak transcription	A549	lung
41	chr12:50969400-50973000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:50969400-50973600	Weak transcription	Esophagus	oesophagus
43	chr12:50969400-50973600	Weak transcription	Psoas Muscle	Psoas
44	chr12:50969400-50973600	Weak transcription	Spleen	Spleen
45	chr12:50969400-50973600	Weak transcription	Hela-S3	cervix
46	chr12:50969400-50974400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:50969400-50974600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:50969400-50974800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:50969400-50975400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:50969400-50975400	Weak transcription	HMEC	breast

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