Variant report

Variant	nsv1049357
Chromosome Location	chr12:84195945-84365435
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:84219617..84220155-chr12:84790822..84791366,2	MCF-7	breast:
2	chr12:84298030..84299669-chr12:84301549..84304383,2	K562	blood:
3	chr12:84315911..84318774-chr12:84319552..84322356,2	K562	blood:
4	chr12:84272240..84274157-chr12:84279540..84281050,2	K562	blood:
5	chr12:84219094..84220507-chr12:84790896..84791617,3	MCF-7	breast:
6	chr12:84235620..84237833-chr12:84261114..84263120,2	MCF-7	breast:
7	chr12:84270623..84273533-chr12:84303786..84305748,2	MCF-7	breast:
8	chr12:84272692..84275018-chr12:84275623..84277392,2	MCF-7	breast:
9	chr12:84219601..84220107-chr12:84891353..84892072,2	MCF-7	breast:
10	chr12:83077283..83077912-chr12:84217331..84217998,2	MCF-7	breast:
11	chr12:84219948..84220960-chr12:84349104..84349647,3	MCF-7	breast:
12	chr12:84272692..84275018-chr12:84275623..84277392,2	MCF-7	breast:
13	chr12:84190532..84192129-chr12:84200267..84202218,2	K562	blood:
14	chr12:83079271..83080216-chr12:84217192..84217878,5	MCF-7	breast:
15	chr12:84315911..84318774-chr12:84319552..84322356,2	K562	blood:
16	chr1:54192091..54193000-chr12:84272022..84272741,2	MCF-7	breast:
17	chr12:83080291..83081825-chr12:84257884..84260777,2	MCF-7	breast:
18	chr12:84199392..84199909-chr12:84217037..84217865,2	MCF-7	breast:
19	chr12:84219646..84220339-chr12:84896793..84897478,2	MCF-7	breast:
20	chr12:82910494..82911273-chr12:84217531..84218136,2	MCF-7	breast:
21	chr12:84235620..84237833-chr12:84261114..84263120,2	MCF-7	breast:
22	chr12:84272240..84274157-chr12:84279540..84281050,2	K562	blood:
23	chr12:84199392..84199909-chr12:84217037..84217865,2	MCF-7	breast:
24	chr12:84191313..84194252-chr12:84200577..84203127,2	MCF-7	breast:
25	chr12:84298030..84299669-chr12:84301549..84304383,2	K562	blood:
26	chr12:84276799..84278474-chr20:45988477..45990232,2	MCF-7	breast:
27	chr12:83079205..83080097-chr12:84217208..84218130,4	MCF-7	breast:
28	chr12:82920722..82921355-chr12:84217213..84217834,2	MCF-7	breast:
29	chr12:84257472..84261320-chr12:84262069..84264682,4	MCF-7	breast:
30	chr12:84219948..84220960-chr12:84349104..84349647,3	MCF-7	breast:
31	chr12:84257472..84261320-chr12:84262069..84264682,4	MCF-7	breast:
32	chr12:83856040..83856789-chr12:84217180..84218034,3	MCF-7	breast:
33	chr12:84270623..84273533-chr12:84303786..84305748,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179104	chromatin interactions

Extended variants
information (count: 3007 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3007 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557477866	chr12:84196008-84196009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572856084	chr12:84196015-84196016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540383448	chr12:84196024-84196025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183465143	chr12:84196050-84196051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573852280	chr12:84196075-84196076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187365970	chr12:84196116-84196117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375781134	chr12:84196125-84196126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563655732	chr12:84196148-84196149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373661802	chr12:84196231-84196232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55677907	chr12:84196299-84196300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs59093174	chr12:84196349-84196350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564523050	chr12:84196383-84196384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558264195	chr12:84196410-84196411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528595200	chr12:84196416-84196417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143847373	chr12:84196435-84196436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60394667	chr12:84196448-84196449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529578397	chr12:84196493-84196494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550904248	chr12:84196506-84196507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568510307	chr12:84196519-84196520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11116045	chr12:84196529-84196530	Weak transcription	n/a	n/a	Overlapped CNVs	disease
21	rs550972046	chr12:84196543-84196544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140294304	chr12:84196572-84196573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555965534	chr12:84196672-84196673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192918761	chr12:84196776-84196777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555515890	chr12:84196865-84196866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573788837	chr12:84196866-84196867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538126748	chr12:84196876-84196877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183818202	chr12:84196917-84196918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370205639	chr12:84196954-84196955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577999809	chr12:84196955-84196956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533060419	chr12:84196971-84196972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546176361	chr12:84196976-84196977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11829293	chr12:84197030-84197031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573268634	chr12:84197137-84197138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540408585	chr12:84197145-84197146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562301338	chr12:84197146-84197147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529510701	chr12:84197147-84197148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541319751	chr12:84197148-84197149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563245768	chr12:84197180-84197181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550765512	chr12:84197184-84197185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562802518	chr12:84197193-84197194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533463312	chr12:84197201-84197202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187897250	chr12:84197209-84197210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533745395	chr12:84197218-84197219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566372474	chr12:84197229-84197230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11116046	chr12:84197234-84197235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs192983295	chr12:84197235-84197236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545910588	chr12:84197292-84197293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567448776	chr12:84197336-84197337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563821747	chr12:84197337-84197338	Weak transcription	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
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
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84195800-84196200	Enhancers	A549	lung
2	chr12:84196200-84196600	Weak transcription	A549	lung
3	chr12:84196600-84196800	Enhancers	A549	lung
4	chr12:84196800-84198200	Weak transcription	A549	lung
5	chr12:84198000-84198600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:84198200-84199000	Enhancers	A549	lung
7	chr12:84198600-84199400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr12:84199000-84199200	Flanking Active TSS	A549	lung
9	chr12:84199000-84200000	Enhancers	Hela-S3	cervix
10	chr12:84199200-84200000	Active TSS	A549	lung
11	chr12:84199400-84204800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:84200000-84200200	Flanking Active TSS	A549	lung
13	chr12:84200200-84200400	Enhancers	A549	lung
14	chr12:84201000-84202000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:84201800-84202600	Enhancers	Adipose Nuclei	Adipose
16	chr12:84202000-84202800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:84202200-84203000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:84202800-84203000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:84204800-84205800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr12:84205200-84205800	Enhancers	Fetal Heart	heart
21	chr12:84205800-84206800	Weak transcription	Fetal Heart	heart
22	chr12:84206800-84207000	Enhancers	Fetal Heart	heart
23	chr12:84211400-84213600	Enhancers	A549	lung
24	chr12:84212400-84213400	Enhancers	Rectal Smooth Muscle	rectum
25	chr12:84213000-84213200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:84213000-84213400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:84213000-84213400	Enhancers	Colon Smooth Muscle	Colon
28	chr12:84213000-84213800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:84213200-84213400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:84213600-84215400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:84213600-84215800	Weak transcription	A549	lung
32	chr12:84215400-84216200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:84215600-84216400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:84215800-84216400	Enhancers	A549	lung
35	chr12:84216200-84220000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:84216600-84221000	Weak transcription	Right Atrium	heart
37	chr12:84217200-84217600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:84217600-84220200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:84220000-84222000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:84220000-84222800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr12:84220200-84221600	Enhancers	HMEC	breast
42	chr12:84220200-84222000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:84220400-84222400	Enhancers	Fetal Muscle Leg	muscle
44	chr12:84220600-84221400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:84220800-84221400	Enhancers	NHEK	skin
46	chr12:84220800-84221600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr12:84220800-84222200	Enhancers	Brain Anterior Caudate	brain
48	chr12:84220800-84222400	Enhancers	Brain Hippocampus Middle	brain
49	chr12:84221000-84221200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:84221000-84221400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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