Variant report

Variant	nsv559697
Chromosome Location	chr12:87308897-87346094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 985 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:985 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10506938	chr12:87308897-87308898	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189392403	chr12:87308905-87308906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566464670	chr12:87308916-87308917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145670990	chr12:87308967-87308968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182278444	chr12:87308972-87308973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568989994	chr12:87308989-87308990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138210289	chr12:87309018-87309019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539351173	chr12:87309032-87309033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185474157	chr12:87309045-87309046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577762707	chr12:87309054-87309055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116137657	chr12:87309067-87309068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538783480	chr12:87309068-87309069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190376901	chr12:87309076-87309077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575267615	chr12:87309085-87309086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533836355	chr12:87309126-87309127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149178166	chr12:87309192-87309193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34244899	chr12:87309223-87309224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542645549	chr12:87309273-87309274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562607326	chr12:87309274-87309275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143225051	chr12:87309295-87309296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545534381	chr12:87309325-87309326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565343507	chr12:87309431-87309432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527936853	chr12:87309455-87309456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541725587	chr12:87309473-87309474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561603922	chr12:87309544-87309545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528861464	chr12:87309553-87309554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148307385	chr12:87309607-87309608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7358611	chr12:87309610-87309611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531315985	chr12:87309619-87309620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551495066	chr12:87309631-87309632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542649626	chr12:87309683-87309684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560964151	chr12:87309738-87309739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534019904	chr12:87309744-87309745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185881565	chr12:87309748-87309749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545208003	chr12:87309764-87309765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2635069	chr12:87309783-87309784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567236697	chr12:87309845-87309846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200376261	chr12:87309893-87309894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560820829	chr12:87309896-87309897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573164646	chr12:87309912-87309913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12300986	chr12:87309929-87309930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190058829	chr12:87309952-87309953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180906652	chr12:87309953-87309954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11104186	chr12:87309984-87309985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs11104187	chr12:87310058-87310059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541661149	chr12:87310063-87310064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34546765	chr12:87310067-87310068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs530421115	chr12:87310072-87310073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563400729	chr12:87310074-87310075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35212803	chr12:87310110-87310111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87306600-87309000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:87307200-87310800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:87307600-87311000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:87308600-87309200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:87309000-87309200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:87310800-87311400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:87311000-87311200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:87311000-87311200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:87318600-87319200	Enhancers	Fetal Heart	heart
10	chr12:87318800-87319800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:87325600-87326000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:87327200-87327400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:87327400-87330600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:87328800-87329400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr12:87329000-87329200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:87329000-87329400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:87329200-87330400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:87329400-87331800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:87329400-87337800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:87330400-87331200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr12:87330600-87330800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr12:87330600-87332000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:87330800-87331200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr12:87330800-87331200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr12:87331200-87331600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:87331200-87331800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:87331200-87338600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr12:87331600-87332400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:87331800-87332400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr12:87331800-87332400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr12:87332000-87332400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr12:87332200-87332400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:87332400-87333400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:87332400-87336600	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr12:87332400-87337600	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr12:87332400-87338400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:87333000-87333400	Active TSS	H9 Cell Line	embryonic stem cell
38	chr12:87333000-87333400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:87333400-87333600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:87333400-87334200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:87333600-87338600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:87334200-87334600	Active TSS	H9 Cell Line	embryonic stem cell
43	chr12:87336600-87337600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:87337600-87338000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr12:87337600-87338400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr12:87337800-87338400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr12:87337800-87341800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr12:87338000-87338400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr12:87338400-87338600	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr12:87338400-87338600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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