Variant report

Variant	nsv1049167
Chromosome Location	chr12:87321296-87386980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:87376736..87379148-chr12:87408006..87409813,2	K562	blood:
2	chr12:87386481..87388359-chr12:87403399..87406210,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MGAT4C-3	chr12:87335669-87335818	NONHSAT029768
2	lnc-MGAT4C-3	chr12:87345415-87345519	NONHSAT029768

Extended variants
information (count: 1652 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1652 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548179867	chr12:87325615-87325616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28438801	chr12:87325704-87325705	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115975045	chr12:87325712-87325713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs137855718	chr12:87325740-87325741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377151756	chr12:87325746-87325747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535751504	chr12:87325754-87325755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570641885	chr12:87325795-87325796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566501362	chr12:87325826-87325827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539632937	chr12:87325829-87325830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192906141	chr12:87325942-87325943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73192706	chr12:87325951-87325952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149459698	chr12:87325994-87325995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113821563	chr12:87327200-87327201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139817984	chr12:87327213-87327214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548839263	chr12:87327229-87327230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568817025	chr12:87327257-87327258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542972492	chr12:87327301-87327302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11104197	chr12:87327314-87327315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs80330674	chr12:87327403-87327404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571600860	chr12:87327420-87327421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534276797	chr12:87327436-87327437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117415842	chr12:87327464-87327465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567811830	chr12:87327478-87327479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376241656	chr12:87327531-87327532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113023635	chr12:87327561-87327562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185654169	chr12:87327570-87327571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556848673	chr12:87327571-87327572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60785314	chr12:87327604-87327605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs199698282	chr12:87327605-87327606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200806348	chr12:87327621-87327622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201876530	chr12:87327622-87327623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199846195	chr12:87327623-87327624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77543753	chr12:87327624-87327625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80086144	chr12:87327627-87327628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577601987	chr12:87327654-87327655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145722821	chr12:87327661-87327662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11104198	chr12:87327665-87327666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560013280	chr12:87327685-87327686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529008667	chr12:87327695-87327696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189345702	chr12:87327715-87327716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112281571	chr12:87327760-87327761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11611539	chr12:87327762-87327763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551416987	chr12:87327763-87327764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571598456	chr12:87327770-87327771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375653669	chr12:87327825-87327826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561343473	chr12:87327838-87327839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527697944	chr12:87327850-87327851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11608968	chr12:87327851-87327852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs567762990	chr12:87327864-87327865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536800894	chr12:87327867-87327868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87325600-87326000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:87327200-87327400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:87327400-87330600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:87328800-87329400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:87329000-87329200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:87329000-87329400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:87329200-87330400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:87329400-87331800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:87329400-87337800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:87330400-87331200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr12:87330600-87330800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:87330600-87332000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:87330800-87331200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:87330800-87331200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:87331200-87331600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:87331200-87331800	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:87331200-87338600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:87331600-87332400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:87331800-87332400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr12:87331800-87332400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:87332000-87332400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr12:87332200-87332400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:87332400-87333400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:87332400-87336600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr12:87332400-87337600	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr12:87332400-87338400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:87333000-87333400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr12:87333000-87333400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:87333400-87333600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:87333400-87334200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:87333600-87338600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:87334200-87334600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr12:87336600-87337600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:87337600-87338000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr12:87337600-87338400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr12:87337800-87338400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:87337800-87341800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:87338000-87338400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr12:87338400-87338600	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr12:87338400-87338600	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr12:87338400-87338800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr12:87338400-87339200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr12:87338400-87340200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr12:87338600-87338800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr12:87338600-87338800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr12:87338600-87338800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr12:87338600-87340800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:87338800-87339000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:87338800-87339400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr12:87338800-87339600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links