Variant report

Variant	nsv560042
Chromosome Location	chr12:104282763-104286036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104282070..104284528-chr12:104287528..104289517,2	K562	blood:
2	chr12:104272930..104275342-chr12:104282013..104284611,2	K562	blood:
3	chr12:104277028..104280742-chr12:104283520..104285730,3	K562	blood:
4	chr12:104277824..104279928-chr12:104282058..104285020,2	K562	blood:
5	chr12:104281610..104283570-chr12:104286260..104289028,2	K562	blood:

Variant related genes	Relation type
ENSG00000214198	chromatin interactions

Extended variants
information (count: 150 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9943844	chr12:104282763-104282764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371358817	chr12:104282790-104282791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34978042	chr12:104282793-104282794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs9943750	chr12:104282794-104282795	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs148949488	chr12:104282805-104282806	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539982355	chr12:104282811-104282812	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs9943812	chr12:104282813-104282814	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs9943761	chr12:104282849-104282850	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs9943762	chr12:104282876-104282877	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs563988081	chr12:104282924-104282925	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116586114	chr12:104282930-104282931	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548878824	chr12:104282943-104282944	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562302934	chr12:104282944-104282945	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs527884071	chr12:104282972-104282973	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143729132	chr12:104282976-104282977	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10745986	chr12:104283051-104283052	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs550119353	chr12:104283111-104283112	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs10745987	chr12:104283116-104283117	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537780003	chr12:104283124-104283125	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535117706	chr12:104283128-104283129	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs117787187	chr12:104283187-104283188	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377126806	chr12:104283199-104283200	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10745988	chr12:104283206-104283207	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs533944369	chr12:104283208-104283209	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372955717	chr12:104283274-104283275	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551658019	chr12:104283372-104283373	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10778298	chr12:104283395-104283396	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs559184385	chr12:104283398-104283399	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs75620127	chr12:104283413-104283414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184434029	chr12:104283524-104283525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs576091389	chr12:104283535-104283536	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs146582652	chr12:104283539-104283540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113055185	chr12:104283554-104283555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113504879	chr12:104283555-104283556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs397946123	chr12:104283558-104283559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs562321226	chr12:104283560-104283561	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73175868	chr12:104283618-104283619	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556405269	chr12:104283659-104283660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547935440	chr12:104283680-104283681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188873981	chr12:104283694-104283695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs3850016	chr12:104283721-104283722	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs3850017	chr12:104283747-104283748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs78942277	chr12:104283773-104283774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373531358	chr12:104283809-104283810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149735703	chr12:104283815-104283816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369392749	chr12:104283818-104283819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535451786	chr12:104283842-104283843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553990205	chr12:104283861-104283862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567976230	chr12:104283921-104283922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181416802	chr12:104283940-104283941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104278200-104285800	Enhancers	Fetal Thymus	thymus
2	chr12:104279200-104284200	Weak transcription	Thymus	Thymus
3	chr12:104280600-104283400	Weak transcription	GM12878-XiMat	blood
4	chr12:104281200-104284200	Weak transcription	Brain Substantia Nigra	brain
5	chr12:104282600-104284800	Weak transcription	Pancreas	Pancrea
6	chr12:104282800-104283200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:104283200-104283400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:104283400-104284000	Enhancers	GM12878-XiMat	blood
9	chr12:104283400-104284400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:104284000-104299600	Weak transcription	GM12878-XiMat	blood
11	chr12:104284200-104284600	Enhancers	Thymus	Thymus
12	chr12:104284400-104284600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:104284400-104284600	ZNF genes & repeats	Lung	lung
14	chr12:104284600-104288000	Weak transcription	Lung	lung
15	chr12:104284600-104294200	Weak transcription	Thymus	Thymus

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