Variant report

Variant	nsv899305
Chromosome Location	chr12:75186603-75275196
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:83)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:83 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:75265430..75266248-chr12:75629736..75630644,4	MCF-7	breast:
2	chr12:75265343..75266283-chr12:75284674..75285457,4	MCF-7	breast:
3	chr12:75221574..75223298-chr12:75233563..75236001,2	MCF-7	breast:
4	chr12:75195069..75197266-chr12:75262838..75264849,2	MCF-7	breast:
5	chr12:75219556..75220294-chr12:75265374..75266060,2	MCF-7	breast:
6	chr12:75207717..75210514-chr12:75285038..75287810,2	MCF-7	breast:
7	chr12:75263638..75265960-chr12:75284735..75286598,2	MCF-7	breast:
8	chr12:75196304..75196971-chr12:75265353..75265934,3	MCF-7	breast:
9	chr12:75200349..75202777-chr12:75227441..75229232,2	MCF-7	breast:
10	chr12:75256166..75257059-chr12:75265645..75266195,3	MCF-7	breast:
11	chr12:75220852..75221505-chr12:75265376..75266253,2	MCF-7	breast:
12	chr12:75243298..75244254-chr12:75481259..75482201,5	MCF-7	breast:
13	chr12:75199743..75202580-chr12:75253148..75256018,2	MCF-7	breast:
14	chr12:75209417..75211529-chr12:75216257..75219142,2	MCF-7	breast:
15	chr12:75204290..75207004-chr12:75208185..75210235,2	MCF-7	breast:
16	chr12:75242648..75245523-chr12:75247721..75249982,3	MCF-7	breast:
17	chr12:75196803..75199256-chr12:75201157..75202833,2	MCF-7	breast:
18	chr12:75217500..75219685-chr12:75226685..75228290,2	MCF-7	breast:
19	chr12:75265650..75266232-chr12:75555879..75556404,2	MCF-7	breast:
20	chr12:75082733..75083422-chr12:75196794..75197408,2	MCF-7	breast:
21	chr12:75236955..75238898-chr12:75240406..75242003,2	MCF-7	breast:
22	chr12:75209417..75211529-chr12:75216257..75219142,2	MCF-7	breast:
23	chr12:75225171..75227023-chr12:75227244..75230873,3	K562	blood:
24	chr12:75234590..75237406-chr12:75238194..75240127,2	K562	blood:
25	chr12:75217500..75219685-chr12:75226685..75228290,2	MCF-7	breast:
26	chr12:75256237..75256920-chr12:75265328..75266003,2	MCF-7	breast:
27	chr12:75256028..75256920-chr12:75265435..75266163,5	MCF-7	breast:
28	chr12:75256099..75257364-chr12:75265428..75266066,3	MCF-7	breast:
29	chr12:75199743..75202580-chr12:75253148..75256018,2	MCF-7	breast:
30	chr12:75265811..75268299-chr12:75283552..75285832,3	MCF-7	breast:
31	chr12:75261101..75263206-chr12:75265458..75267858,3	MCF-7	breast:
32	chr12:75196597..75197191-chr12:75265299..75266255,3	MCF-7	breast:
33	chr12:75265401..75266084-chr5:131714091..131714638,2	MCF-7	breast:
34	chr12:75256335..75256851-chr12:75264696..75265230,2	MCF-7	breast:
35	chr12:75220852..75221505-chr12:75265376..75266253,2	MCF-7	breast:
36	chr12:75218292..75221665-chr12:75263288..75267484,3	MCF-7	breast:
37	chr12:75261101..75263206-chr12:75265458..75267858,3	MCF-7	breast:
38	chr12:75196597..75197191-chr12:75265299..75266255,3	MCF-7	breast:
39	chr12:75256237..75256920-chr12:75265328..75266003,2	MCF-7	breast:
40	chr12:75239042..75240714-chr12:75242382..75243969,2	K562	blood:
41	chr12:75221574..75223298-chr12:75233563..75236001,2	MCF-7	breast:
42	chr12:75200335..75203093-chr12:75211063..75214907,4	MCF-7	breast:
43	chr12:75219556..75220294-chr12:75265374..75266060,2	MCF-7	breast:
44	chr12:75265352..75266271-chr12:75682822..75683455,2	MCF-7	breast:
45	chr12:75265371..75266255-chr12:75556144..75557180,3	MCF-7	breast:
46	chr12:75225171..75227023-chr12:75227244..75230873,3	K562	blood:
47	chr12:75256335..75256851-chr12:75264696..75265230,2	MCF-7	breast:
48	chr12:75218292..75221665-chr12:75263288..75267484,3	MCF-7	breast:
49	chr12:75265749..75267789-chr12:75654308..75656117,2	MCF-7	breast:
50	chr12:75274838..75280839-chr12:75281596..75285487,6	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATXN7L3B-6	chr12:75274976-75275109	NONHSAT029513
2	lnc-ATXN7L3B-6	chr12:75268314-75268393	NONHSAT029513

No data

Variant related genes	Relation type
ENSG00000111057	chromatin interactions
ENSG00000173401	chromatin interactions
ENSG00000170421	chromatin interactions

Extended variants
information (count: 1132 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1132 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10082810	chr12:75186603-75186604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370759708	chr12:75186605-75186606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555291725	chr12:75186607-75186608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575244120	chr12:75186645-75186646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141344503	chr12:75186652-75186653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146971626	chr12:75186677-75186678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577729337	chr12:75186679-75186680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543481063	chr12:75186687-75186688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185358492	chr12:75186716-75186717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78231766	chr12:75186717-75186718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543348729	chr12:75186727-75186728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559793968	chr12:75186747-75186748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10083132	chr12:75186759-75186760	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551668470	chr12:75186771-75186772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565445460	chr12:75186780-75186781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114929638	chr12:75186787-75186788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs57269437	chr12:75186806-75186807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569708717	chr12:75186821-75186822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535101228	chr12:75186834-75186835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549286626	chr12:75186912-75186913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565820314	chr12:75186951-75186952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34601954	chr12:75187004-75187005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190123810	chr12:75187005-75187006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182388350	chr12:75187035-75187036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138238578	chr12:75187078-75187079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188030486	chr12:75187082-75187083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552053980	chr12:75187086-75187087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2136035	chr12:75187130-75187131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537155326	chr12:75187184-75187185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112736228	chr12:75187195-75187196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143720122	chr12:75187223-75187224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112002091	chr12:75187230-75187231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542636509	chr12:75187241-75187242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369697126	chr12:75187251-75187252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11180230	chr12:75187298-75187299	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573475806	chr12:75187304-75187305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573668207	chr12:75187326-75187327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148187754	chr12:75187327-75187328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531087250	chr12:75187344-75187345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141134353	chr12:75187350-75187351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563349767	chr12:75187353-75187354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193057626	chr12:75187458-75187459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548716037	chr12:75187468-75187469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565640316	chr12:75187479-75187480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs5799184	chr12:75187488-75187489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397808421	chr12:75187489-75187490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397850974	chr12:75187490-75187491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200532311	chr12:75187491-75187492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551219559	chr12:75187498-75187499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571151966	chr12:75187522-75187523	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75186600-75188400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:75188200-75188800	Enhancers	HSMM	muscle
3	chr12:75195600-75196200	Enhancers	Fetal Intestine Small	intestine
4	chr12:75195600-75196600	Enhancers	Fetal Intestine Large	intestine
5	chr12:75195800-75196200	Enhancers	Liver	Liver
6	chr12:75209000-75210800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:75212200-75212800	Enhancers	Fetal Kidney	kidney
8	chr12:75212400-75212800	Enhancers	A549	lung
9	chr12:75212800-75213800	Weak transcription	A549	lung
10	chr12:75213600-75214200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr12:75213800-75214000	Enhancers	A549	lung
12	chr12:75213800-75214600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr12:75214400-75214600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:75217600-75217800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr12:75230600-75231200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:75238400-75238600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:75238600-75239600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:75239600-75241200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:75239800-75240200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:75240800-75242000	Enhancers	HepG2	liver
21	chr12:75241000-75243600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:75241000-75244000	Active TSS	Fetal Intestine Small	intestine
23	chr12:75241000-75244400	Active TSS	Fetal Intestine Large	intestine
24	chr12:75241200-75242200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:75243400-75243600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:75244000-75245600	Weak transcription	Fetal Intestine Small	intestine
27	chr12:75245600-75245800	Enhancers	Fetal Intestine Small	intestine
28	chr12:75245600-75245800	Enhancers	Pancreas	Pancrea
29	chr12:75245800-75246000	Weak transcription	Fetal Intestine Small	intestine
30	chr12:75245800-75252800	Weak transcription	Pancreas	Pancrea
31	chr12:75252800-75253200	ZNF genes & repeats	Pancreas	Pancrea
32	chr12:75255600-75257400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:75256000-75257000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:75256000-75257200	Enhancers	HUVEC	blood vessel
35	chr12:75256400-75257200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr12:75256600-75257200	Enhancers	Osteobl	bone
37	chr12:75265400-75265800	Enhancers	Primary T cells from cord blood	blood
38	chr12:75268200-75268600	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr12:75268400-75269000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr12:75268400-75269000	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr12:75268600-75269000	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr12:75268600-75269000	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr12:75268600-75269200	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr12:75268600-75269200	Active TSS	H9 Cell Line	embryonic stem cell

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