Variant report

Variant	nsv899358
Chromosome Location	chr12:84161715-84301305
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	chr12:84219601..84220107-chr12:84891353..84892072,2	MCF-7	breast:
2	chr12:84235620..84237833-chr12:84261114..84263120,2	MCF-7	breast:
3	chr12:84298030..84299669-chr12:84301549..84304383,2	K562	blood:
4	chr12:82910494..82911273-chr12:84217531..84218136,2	MCF-7	breast:
5	chr12:84257472..84261320-chr12:84262069..84264682,4	MCF-7	breast:
6	chr12:83080291..83081825-chr12:84257884..84260777,2	MCF-7	breast:
7	chr12:83077283..83077912-chr12:84217331..84217998,2	MCF-7	breast:
8	chr12:84219646..84220339-chr12:84896793..84897478,2	MCF-7	breast:
9	chr12:84272692..84275018-chr12:84275623..84277392,2	MCF-7	breast:
10	chr12:84272240..84274157-chr12:84279540..84281050,2	K562	blood:
11	chr12:84276799..84278474-chr20:45988477..45990232,2	MCF-7	breast:
12	chr12:84272240..84274157-chr12:84279540..84281050,2	K562	blood:
13	chr12:83079205..83080097-chr12:84217208..84218130,4	MCF-7	breast:
14	chr12:84191313..84194252-chr12:84200577..84203127,2	MCF-7	breast:
15	chr12:84257472..84261320-chr12:84262069..84264682,4	MCF-7	breast:
16	chr1:54192091..54193000-chr12:84272022..84272741,2	MCF-7	breast:
17	chr12:83856040..83856789-chr12:84217180..84218034,3	MCF-7	breast:
18	chr12:84199392..84199909-chr12:84217037..84217865,2	MCF-7	breast:
19	chr12:84190532..84192129-chr12:84200267..84202218,2	K562	blood:
20	chr12:84190532..84192129-chr12:84200267..84202218,2	K562	blood:
21	chr12:83079271..83080216-chr12:84217192..84217878,5	MCF-7	breast:
22	chr12:84219617..84220155-chr12:84790822..84791366,2	MCF-7	breast:
23	chr12:84219948..84220960-chr12:84349104..84349647,3	MCF-7	breast:
24	chr12:82920722..82921355-chr12:84217213..84217834,2	MCF-7	breast:
25	chr12:84219094..84220507-chr12:84790896..84791617,3	MCF-7	breast:
26	chr12:84199392..84199909-chr12:84217037..84217865,2	MCF-7	breast:
27	chr12:84270623..84273533-chr12:84303786..84305748,2	MCF-7	breast:
28	chr12:84272692..84275018-chr12:84275623..84277392,2	MCF-7	breast:
29	chr12:84235620..84237833-chr12:84261114..84263120,2	MCF-7	breast:
30	chr12:84191313..84194252-chr12:84200577..84203127,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179104	chromatin interactions

Extended variants
information (count: 2436 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2436 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17811547	chr12:84161715-84161716	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187971014	chr12:84161718-84161719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532152635	chr12:84161740-84161741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565084173	chr12:84161760-84161761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532390792	chr12:84161825-84161826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547450032	chr12:84161833-84161834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191803152	chr12:84161838-84161839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183580308	chr12:84161858-84161859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17011307	chr12:84161881-84161882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73155681	chr12:84161882-84161883	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs537300026	chr12:84161915-84161916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552857272	chr12:84161964-84161965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534744776	chr12:84161972-84161973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376638016	chr12:84161973-84161974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11835799	chr12:84162067-84162068	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114211856	chr12:84162090-84162091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7976538	chr12:84162155-84162156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553081141	chr12:84162166-84162167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7976550	chr12:84162185-84162186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7965856	chr12:84162203-84162204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574630143	chr12:84162215-84162216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7976771	chr12:84162309-84162310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7966039	chr12:84162313-84162314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7975902	chr12:84162325-84162326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561501946	chr12:84162340-84162341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs118097831	chr12:84162348-84162349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10862758	chr12:84162359-84162360	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545753660	chr12:84162399-84162400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552146847	chr12:84162404-84162405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547052297	chr12:84162405-84162406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576812811	chr12:84162408-84162409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61952906	chr12:84162452-84162453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs2061527	chr12:84162472-84162473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530175062	chr12:84162491-84162492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188210697	chr12:84162514-84162515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563702500	chr12:84162528-84162529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367942466	chr12:84162551-84162552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192380458	chr12:84162558-84162559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552578433	chr12:84162583-84162584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569136127	chr12:84162617-84162618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571189436	chr12:84162637-84162638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534595394	chr12:84162665-84162666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11116021	chr12:84162698-84162699	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568070265	chr12:84162778-84162779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11116022	chr12:84162792-84162793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs557044906	chr12:84162793-84162794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7966389	chr12:84162813-84162814	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7966402	chr12:84162840-84162841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185566041	chr12:84162894-84162895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557748128	chr12:84162960-84162961	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84158000-84162600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:84161600-84163400	Enhancers	Fetal Kidney	kidney
3	chr12:84162600-84162800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:84162800-84163400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:84183800-84184200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:84184000-84184200	Enhancers	Brain Hippocampus Middle	brain
7	chr12:84184000-84184400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:84184000-84186000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:84184000-84186200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:84184200-84184800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr12:84184200-84185600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:84184400-84185400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:84185400-84185800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:84185600-84185800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr12:84186000-84190200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:84187400-84188000	Enhancers	Liver	Liver
17	chr12:84189600-84190400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr12:84189600-84191200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:84190200-84190800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr12:84190400-84190800	Enhancers	Brain Cingulate Gyrus	brain
21	chr12:84195800-84196200	Enhancers	A549	lung
22	chr12:84196200-84196600	Weak transcription	A549	lung
23	chr12:84196600-84196800	Enhancers	A549	lung
24	chr12:84196800-84198200	Weak transcription	A549	lung
25	chr12:84198000-84198600	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr12:84198200-84199000	Enhancers	A549	lung
27	chr12:84198600-84199400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr12:84199000-84199200	Flanking Active TSS	A549	lung
29	chr12:84199000-84200000	Enhancers	Hela-S3	cervix
30	chr12:84199200-84200000	Active TSS	A549	lung
31	chr12:84199400-84204800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:84200000-84200200	Flanking Active TSS	A549	lung
33	chr12:84200200-84200400	Enhancers	A549	lung
34	chr12:84201000-84202000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:84201800-84202600	Enhancers	Adipose Nuclei	Adipose
36	chr12:84202000-84202800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:84202200-84203000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:84202800-84203000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:84204800-84205800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr12:84205200-84205800	Enhancers	Fetal Heart	heart
41	chr12:84205800-84206800	Weak transcription	Fetal Heart	heart
42	chr12:84206800-84207000	Enhancers	Fetal Heart	heart
43	chr12:84211400-84213600	Enhancers	A549	lung
44	chr12:84212400-84213400	Enhancers	Rectal Smooth Muscle	rectum
45	chr12:84213000-84213200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr12:84213000-84213400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:84213000-84213400	Enhancers	Colon Smooth Muscle	Colon
48	chr12:84213000-84213800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:84213200-84213400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:84213600-84215400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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