Variant report

Variant	nsv559422
Chromosome Location	chr12:76129356-76168066
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:76114723..76116325-chr12:76160564..76163207,2	MCF-7	breast:
2	chr12:76137481..76139683-chr12:76424691..76427029,2	MCF-7	breast:
3	chr12:76149315..76154134-chr12:76423199..76426227,5	MCF-7	breast:
4	chr12:76129433..76131735-chr12:76138292..76140488,2	MCF-7	breast:
5	chr12:76153935..76155578-chr12:76158917..76160982,2	K562	blood:
6	chr12:76114009..76115983-chr12:76143397..76145976,2	MCF-7	breast:
7	chr12:76151211..76152951-chr12:76157340..76158965,2	MCF-7	breast:
8	chr12:76149005..76152871-chr12:76157255..76162121,4	MCF-7	breast:
9	chr12:76143202..76145273-chr12:76149381..76151301,2	MCF-7	breast:
10	chr12:76125594..76129170-chr12:76135575..76137879,3	MCF-7	breast:
11	chr12:76143202..76145273-chr12:76149381..76151301,2	MCF-7	breast:
12	chr12:76149005..76152871-chr12:76157255..76162121,4	MCF-7	breast:
13	chr12:76159277..76162403-chr12:76174482..76179864,5	MCF-7	breast:
14	chr12:76151211..76152951-chr12:76157340..76158965,2	MCF-7	breast:
15	chr12:76166805..76168621-chr12:76419025..76420644,2	MCF-7	breast:
16	chr12:76132540..76134250-chr12:76135335..76137797,2	MCF-7	breast:
17	chr12:76156686..76159270-chr12:76424118..76426881,2	MCF-7	breast:
18	chr12:76126561..76130234-chr12:76422828..76427260,4	MCF-7	breast:
19	chr12:76132540..76134250-chr12:76135335..76137797,2	MCF-7	breast:
20	chr12:76153935..76155578-chr12:76158917..76160982,2	K562	blood:
21	chr12:76113884..76115527-chr12:76165233..76166902,2	MCF-7	breast:
22	chr12:76135960..76138635-chr12:76177887..76180062,2	MCF-7	breast:
23	chr1:174967966..174968644-chr12:76158841..76159715,2	Hela-S3	cervix:
24	chr12:76167368..76169516-chr12:76173341..76175369,2	MCF-7	breast:
25	chr12:76126854..76129806-chr12:76176238..76178500,2	MCF-7	breast:
26	chr12:76128239..76129758-chr12:76425927..76427792,2	MCF-7	breast:
27	chr12:76160515..76162672-chr12:76429287..76432078,2	MCF-7	breast:
28	chr12:76159562..76162411-chr12:76423454..76425785,3	MCF-7	breast:
29	chr12:76165602..76168125-chr12:76171140..76174629,3	MCF-7	breast:
30	chr12:76129433..76131735-chr12:76138292..76140488,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139289	chromatin interactions
ENSG00000116161	chromatin interactions
ENSG00000257839	chromatin interactions
ENSG00000257453	chromatin interactions

Extended variants
information (count: 1426 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1426 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7488278	chr12:76129356-76129357	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1493789	chr12:76129409-76129410	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181192855	chr12:76129413-76129414	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs185405360	chr12:76129457-76129458	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs541609345	chr12:76129459-76129460	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs564475967	chr12:76129515-76129516	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs533677021	chr12:76129604-76129605	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs12581242	chr12:76129646-76129647	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs544100999	chr12:76129667-76129668	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs563702732	chr12:76129801-76129802	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs17115572	chr12:76129826-76129827	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540782361	chr12:76129828-76129829	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs142006517	chr12:76129931-76129932	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs566162658	chr12:76129994-76129995	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs528531994	chr12:76130018-76130019	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs1275569	chr12:76130053-76130054	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs112800918	chr12:76130094-76130095	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs144567068	chr12:76130103-76130104	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs539366729	chr12:76130133-76130134	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs577788282	chr12:76130161-76130162	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs188157506	chr12:76130192-76130193	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs148028982	chr12:76130226-76130227	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs535071644	chr12:76130247-76130248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555217149	chr12:76130251-76130252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1275570	chr12:76130268-76130269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs181952890	chr12:76130303-76130304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141813444	chr12:76130312-76130313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17115579	chr12:76130338-76130339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544162014	chr12:76130346-76130347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563963897	chr12:76130358-76130359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117265977	chr12:76130390-76130391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75394944	chr12:76130426-76130427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563973013	chr12:76130431-76130432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187202689	chr12:76130465-76130466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551553472	chr12:76130466-76130467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563965566	chr12:76130481-76130482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532943379	chr12:76130487-76130488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1275571	chr12:76130516-76130517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs577874664	chr12:76130532-76130533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569610977	chr12:76130546-76130547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535341431	chr12:76130556-76130557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548971531	chr12:76130633-76130634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565505266	chr12:76130637-76130638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59396924	chr12:76130664-76130665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534743700	chr12:76130669-76130670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557553375	chr12:76130680-76130681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578235287	chr12:76130682-76130683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537639573	chr12:76130698-76130699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557544407	chr12:76130709-76130710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545590143	chr12:76130716-76130717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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	21364760	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76121600-76132200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:76127800-76131000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:76127800-76138400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:76128400-76129400	Weak transcription	Liver	Liver
5	chr12:76128600-76132400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:76129000-76129400	Weak transcription	HepG2	liver
7	chr12:76129200-76130600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:76129400-76130000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:76129400-76130000	Enhancers	Hela-S3	cervix
10	chr12:76129400-76130200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:76129400-76130200	Enhancers	Liver	Liver
12	chr12:76129400-76130400	Enhancers	HMEC	breast
13	chr12:76129400-76131600	Enhancers	HepG2	liver
14	chr12:76129600-76129800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:76129600-76130000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:76129600-76130000	Enhancers	Right Ventricle	heart
17	chr12:76129600-76130200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:76129600-76130400	Enhancers	NHEK	skin
19	chr12:76129800-76130200	Enhancers	Pancreas	Pancrea
20	chr12:76129800-76131600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:76130000-76132200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:76130000-76132200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:76130200-76132000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:76130200-76132000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:76130400-76132000	Weak transcription	NHEK	skin
26	chr12:76130400-76132200	Weak transcription	HMEC	breast
27	chr12:76130800-76131200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr12:76131000-76132600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:76131200-76131400	Enhancers	HSMMtube	muscle
30	chr12:76131400-76132400	Weak transcription	HSMMtube	muscle
31	chr12:76131600-76132400	Weak transcription	HepG2	liver
32	chr12:76131800-76132600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:76132000-76132600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:76132000-76132600	Enhancers	NHDF-Ad	bronchial
35	chr12:76132000-76132800	Enhancers	HSMM	muscle
36	chr12:76132000-76133000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:76132000-76134200	Enhancers	NHEK	skin
38	chr12:76132200-76132600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:76132200-76132600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:76132200-76132600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:76132200-76133000	Enhancers	HMEC	breast
42	chr12:76132200-76133400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:76132400-76132600	Enhancers	HepG2	liver
44	chr12:76132400-76132800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr12:76132400-76132800	Enhancers	GM12878-XiMat	blood
46	chr12:76132400-76132800	Enhancers	HSMMtube	muscle
47	chr12:76132400-76132800	Enhancers	NH-A	brain
48	chr12:76132600-76133400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:76132600-76133400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:76132600-76136600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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