Variant report

Variant	nsv437743
Chromosome Location	chr12:40554659-40556860
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	KAP1	chr12:40556000-40556316	K562	blood:	n/a	n/a
2	KAP1	chr12:40556093-40556322	U2OS	brain:	n/a	n/a
3	POU5F1	chr12:40555958-40556201	H1-hESC	embryonic stem cell:	n/a	n/a
4	SETDB1	chr12:40555908-40556580	U2OS	brain:	n/a	n/a
5	STAT3	chr12:40555804-40555833	MCF10A-Er-Src	breast:	n/a	n/a
6	ZNF143	chr12:40556043-40556166	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000223914	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2201143	chr12:40554659-40554660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74567731	chr12:40554668-40554669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73107677	chr12:40554695-40554696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2220677	chr12:40554724-40554725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs181444747	chr12:40554727-40554728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186082310	chr12:40554739-40554740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143849433	chr12:40554766-40554767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569275254	chr12:40554805-40554806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151016088	chr12:40554809-40554810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548302909	chr12:40554810-40554811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139675177	chr12:40554814-40554815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2708466	chr12:40554859-40554860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs559322919	chr12:40554870-40554871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2708467	chr12:40554892-40554893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs561397814	chr12:40554929-40554930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7358651	chr12:40554939-40554940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs550175097	chr12:40554959-40554960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73107684	chr12:40554973-40554974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs76552380	chr12:40554992-40554993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77254084	chr12:40554994-40554995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533255355	chr12:40555065-40555066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575247527	chr12:40555068-40555069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542566188	chr12:40555147-40555148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113837234	chr12:40555149-40555150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17519020	chr12:40555154-40555155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs147713230	chr12:40555215-40555216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564869926	chr12:40555236-40555237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17442966	chr12:40555271-40555272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs201158624	chr12:40555307-40555308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532148145	chr12:40555314-40555315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550506134	chr12:40555315-40555316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191745521	chr12:40555350-40555351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530129843	chr12:40555358-40555359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17490146	chr12:40555407-40555408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142557666	chr12:40555413-40555414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551700493	chr12:40555421-40555422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2131083	chr12:40555429-40555430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs534222391	chr12:40555550-40555551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17483919	chr12:40555574-40555575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183203550	chr12:40555596-40555597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2131082	chr12:40555609-40555610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs2708470	chr12:40555632-40555633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs188071516	chr12:40555636-40555637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370804396	chr12:40555639-40555640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556487982	chr12:40555685-40555686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190904917	chr12:40555773-40555774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182233560	chr12:40555789-40555790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372647777	chr12:40555815-40555816	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs111418867	chr12:40555821-40555822	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs537578128	chr12:40555831-40555832	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40547200-40558600	Weak transcription	Liver	Liver
2	chr12:40552000-40556200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:40556200-40557400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:40556400-40557600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links