Variant report

Variant	esv2750499
Chromosome Location	chr12:21512318-21522767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:21520371-21520400	LNCaP	prostate:	n/a	n/a
2	FOS	chr12:21521002-21521235	HUVEC	blood vessel:	n/a	n/a
3	FOS	chr12:21522031-21522394	HUVEC	blood vessel:	n/a	n/a
4	GATA2	chr12:21522176-21522476	HUVEC	blood vessel:	n/a	n/a
5	IRF1	chr12:21512332-21512450	K562	blood:	n/a	n/a
6	POLR2A	chr12:21513640-21513661	MCF-7	breast:	n/a	n/a
7	POLR2A	chr12:21520834-21520973	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr12:21513708-21513733	MCF-7	breast:	n/a	n/a
9	POLR2A	chr12:21513669-21513705	MCF-7	breast:	n/a	n/a
10	POLR2A	chr12:21513568-21513615	Gliobla	brain:	n/a	n/a
11	SPI1	chr12:21517416-21517612	GM12891	blood:	n/a	n/a
12	SPI1	chr12:21517475-21517641	K562	blood:	n/a	n/a
13	SPI1	chr12:21517475-21517613	GM12878	blood:	n/a	n/a
14	SPI1	chr12:21517471-21517635	K562	blood:	n/a	n/a
15	SPI1	chr12:21512902-21513235	HL-60	blood:	n/a	chr12:21513086-21513099 chr12:21513085-21513098 chr12:21513088-21513097
16	SPI1	chr12:21517482-21517629	GM12878	blood:	n/a	n/a
17	SPI1	chr12:21512945-21513175	K562	blood:	n/a	chr12:21513086-21513099 chr12:21513085-21513098 chr12:21513088-21513097
18	TCF7L2	chr12:21521255-21521673	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21507792..21510095-chr12:21510870..21513071,2	K562	blood:

Variant related genes	Relation type
IAPP	TF binding region
ENSG00000121351	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569138197	chr12:21512328-21512329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs537011576	chr12:21512358-21512359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557368180	chr12:21512360-21512361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574047748	chr12:21512377-21512378	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543173463	chr12:21512442-21512443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553589529	chr12:21512507-21512508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573441895	chr12:21512514-21512515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373817478	chr12:21512538-21512539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545619838	chr12:21512553-21512554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565398451	chr12:21512574-21512575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs10770802	chr12:21512598-21512599	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs111695013	chr12:21512606-21512607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543859807	chr12:21512623-21512624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560965374	chr12:21512629-21512630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371119220	chr12:21512630-21512631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529724358	chr12:21512636-21512637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs183019634	chr12:21512659-21512660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559839485	chr12:21512666-21512667	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573778353	chr12:21512680-21512681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs35529364	chr12:21512681-21512682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187262970	chr12:21512715-21512716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs35197974	chr12:21512758-21512759	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569050437	chr12:21512800-21512801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs77471698	chr12:21512818-21512819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550679592	chr12:21512857-21512858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534883554	chr12:21512864-21512865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs59104974	chr12:21512879-21512880	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs536661748	chr12:21512898-21512899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201167395	chr12:21512948-21512949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372142921	chr12:21512960-21512961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551190417	chr12:21513021-21513022	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs368635773	chr12:21513061-21513062	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573384721	chr12:21513102-21513103	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7959775	chr12:21513103-21513104	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs559151133	chr12:21513137-21513138	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546329553	chr12:21513158-21513159	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575824416	chr12:21513162-21513163	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149294814	chr12:21513192-21513193	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369235370	chr12:21513194-21513195	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561435781	chr12:21513196-21513197	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574063649	chr12:21513210-21513211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539847958	chr12:21513224-21513225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs764906	chr12:21513276-21513277	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs182550524	chr12:21513288-21513289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7959833	chr12:21513319-21513320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562732857	chr12:21513370-21513371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144572429	chr12:21513381-21513382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148469054	chr12:21513384-21513385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187949121	chr12:21513422-21513423	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs534919435	chr12:21513423-21513424	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	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
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21504200-21513200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:21512400-21513000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:21513000-21513200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr12:21513000-21513400	Enhancers	Hela-S3	cervix
5	chr12:21513400-21513800	Active TSS	Hela-S3	cervix
6	chr12:21519800-21520200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:21519800-21521200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:21520000-21521200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:21520200-21520600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:21520200-21520600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:21520400-21520800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:21520600-21529200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:21521000-21521400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:21521200-21526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:21522000-21523400	Enhancers	HUVEC	blood vessel
16	chr12:21522200-21522800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:21522200-21522800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr12:21522200-21523000	Enhancers	Osteobl	bone
19	chr12:21522600-21522800	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links