Variant report

Variant	nsv559419
Chromosome Location	chr12:75185647-75205104
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:75195069..75197266-chr12:75262838..75264849,2	MCF-7	breast:
2	chr12:75196803..75199256-chr12:75201157..75202833,2	MCF-7	breast:
3	chr12:75197132..75197693-chr12:75727753..75728675,2	MCF-7	breast:
4	chr12:75200335..75203093-chr12:75211063..75214907,4	MCF-7	breast:
5	chr12:75196304..75196971-chr12:75265353..75265934,3	MCF-7	breast:
6	chr12:75196803..75199256-chr12:75201157..75202833,2	MCF-7	breast:
7	chr12:75196228..75196971-chr12:75265351..75266301,5	MCF-7	breast:
8	chr12:75200349..75202777-chr12:75227441..75229232,2	MCF-7	breast:
9	chr12:75196597..75197191-chr12:75265299..75266255,3	MCF-7	breast:
10	chr12:75204290..75207004-chr12:75208185..75210235,2	MCF-7	breast:
11	chr12:75082733..75083422-chr12:75196794..75197408,2	MCF-7	breast:
12	chr12:75199743..75202580-chr12:75253148..75256018,2	MCF-7	breast:
13	chr12:75174683..75177641-chr12:75186836..75188465,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173401	chromatin interactions

Extended variants
information (count: 203 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17114229	chr12:75185647-75185648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574155001	chr12:75185669-75185670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556526671	chr12:75185743-75185744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139757738	chr12:75185748-75185749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144231591	chr12:75185757-75185758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368905055	chr12:75185775-75185776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182946208	chr12:75185780-75185781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550198615	chr12:75185782-75185783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572105226	chr12:75185788-75185789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541553784	chr12:75185799-75185800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151033213	chr12:75185815-75185816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570194144	chr12:75185840-75185841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530785530	chr12:75185904-75185905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141006750	chr12:75185937-75185938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539532265	chr12:75185940-75185941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150225117	chr12:75185957-75185958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563307228	chr12:75186013-75186014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374609001	chr12:75186039-75186040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529562887	chr12:75186066-75186067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549361830	chr12:75186114-75186115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566275301	chr12:75186142-75186143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556827186	chr12:75186270-75186271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547518220	chr12:75186360-75186361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58233695	chr12:75186404-75186405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539475491	chr12:75186414-75186415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111354319	chr12:75186464-75186465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569642784	chr12:75186484-75186485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535750181	chr12:75186513-75186514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75189852	chr12:75186519-75186520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141456873	chr12:75186563-75186564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10082810	chr12:75186603-75186604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs370759708	chr12:75186605-75186606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555291725	chr12:75186607-75186608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575244120	chr12:75186645-75186646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141344503	chr12:75186652-75186653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146971626	chr12:75186677-75186678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577729337	chr12:75186679-75186680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543481063	chr12:75186687-75186688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185358492	chr12:75186716-75186717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78231766	chr12:75186717-75186718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543348729	chr12:75186727-75186728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559793968	chr12:75186747-75186748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10083132	chr12:75186759-75186760	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551668470	chr12:75186771-75186772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565445460	chr12:75186780-75186781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114929638	chr12:75186787-75186788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs57269437	chr12:75186806-75186807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569708717	chr12:75186821-75186822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535101228	chr12:75186834-75186835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549286626	chr12:75186912-75186913	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75185000-75185800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr12:75185600-75186600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:75186600-75188400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:75188200-75188800	Enhancers	HSMM	muscle
5	chr12:75195600-75196200	Enhancers	Fetal Intestine Small	intestine
6	chr12:75195600-75196600	Enhancers	Fetal Intestine Large	intestine
7	chr12:75195800-75196200	Enhancers	Liver	Liver

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