Variant report

Variant	nsv527741
Chromosome Location	chr12:12192987-12195969
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	chr12:12189825..12191625-chr12:12192922..12195263,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10845458	chr12:12192987-12192988	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373509370	chr12:12193009-12193010	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543776839	chr12:12193012-12193013	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11054629	chr12:12193013-12193014	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12320048	chr12:12193022-12193023	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116061040	chr12:12193024-12193025	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559444019	chr12:12193030-12193031	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533466276	chr12:12193031-12193032	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12307551	chr12:12193106-12193107	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570244370	chr12:12193122-12193123	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530992302	chr12:12193153-12193154	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189630224	chr12:12193166-12193167	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567615397	chr12:12193186-12193187	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535119701	chr12:12193208-12193209	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553733259	chr12:12193228-12193229	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565513442	chr12:12193249-12193250	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61923490	chr12:12193261-12193262	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557553773	chr12:12193296-12193297	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576334455	chr12:12193309-12193310	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112342353	chr12:12193310-12193311	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1641730	chr12:12193335-12193336	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs370643622	chr12:12193339-12193340	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578012728	chr12:12193343-12193344	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559716776	chr12:12193357-12193358	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533138814	chr12:12193358-12193359	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375411707	chr12:12193394-12193395	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180844613	chr12:12193402-12193403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11300953	chr12:12193424-12193425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12424479	chr12:12193446-12193447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531055855	chr12:12193531-12193532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117244341	chr12:12193543-12193544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567473855	chr12:12193563-12193564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184477521	chr12:12193587-12193588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1641731	chr12:12193631-12193632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577613605	chr12:12193661-12193662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78509783	chr12:12193769-12193770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11838036	chr12:12193847-12193848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569761813	chr12:12193858-12193859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189743930	chr12:12193859-12193860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73285757	chr12:12193864-12193865	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149941147	chr12:12193907-12193908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181341827	chr12:12193911-12193912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536142122	chr12:12193938-12193939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1797655	chr12:12193973-12193974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185712922	chr12:12194021-12194022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141871879	chr12:12194069-12194070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545069318	chr12:12194084-12194085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563481339	chr12:12194133-12194134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530921149	chr12:12194146-12194147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542684612	chr12:12194174-12194175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12186000-12200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:12192200-12193000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr12:12192200-12193800	Enhancers	Fetal Intestine Small	intestine
4	chr12:12192400-12193000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:12192400-12193000	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr12:12192400-12195400	Enhancers	Fetal Intestine Large	intestine
7	chr12:12192600-12193000	Enhancers	Colon Smooth Muscle	Colon
8	chr12:12192600-12193000	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr12:12192600-12193200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:12192800-12193000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:12192800-12193000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr12:12192800-12193200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:12192800-12193200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr12:12192800-12193200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:12192800-12193200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:12192800-12193200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:12193000-12193400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:12193000-12193600	Enhancers	Duodenum Mucosa	Duodenum
19	chr12:12193000-12197600	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:12193400-12199000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:12193600-12195000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:12195000-12195600	Enhancers	Duodenum Mucosa	Duodenum

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