Variant report

Variant	nsv983309
Chromosome Location	chr12:34310324-34314330
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	ESR1	chr12:34313812-34314147	ECC-1	luminal epithelium:	n/a	n/a
2	JUN	chr12:34310783-34310927	K562	blood:	n/a	n/a
3	MAFK	chr12:34311441-34311470	HepG2	liver:	n/a	n/a
4	RFX5	chr12:34311286-34311287	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000256986	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552516542	chr12:34310800-34310801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs368437964	chr12:34310817-34310818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs142260769	chr12:34310824-34310825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs187138310	chr12:34310834-34310835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201375499	chr12:34310862-34310863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs202046377	chr12:34310884-34310885	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs151285208	chr12:34310905-34310906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs80225474	chr12:34310924-34310925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs547135785	chr12:34311467-34311468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs75178095	chr12:34313834-34313835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs55679728	chr12:34313841-34313842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs546526698	chr12:34313848-34313849	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs75803311	chr12:34313874-34313875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs78109593	chr12:34313884-34313885	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs116141512	chr12:34313899-34313900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs199803103	chr12:34313903-34313904	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs201171083	chr12:34313929-34313930	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs534258591	chr12:34313975-34313976	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs112959599	chr12:34313977-34313978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs180765365	chr12:34313996-34313997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs554059458	chr12:34314034-34314035	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs573967526	chr12:34314044-34314045	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs145611649	chr12:34314067-34314068	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs74073504	chr12:34314115-34314116	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576499046	chr12:34314116-34314117	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs185216876	chr12:34314118-34314119	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs188514944	chr12:34314129-34314130	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs527670337	chr12:34314140-34314141	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs547776091	chr12:34314162-34314163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs560470357	chr12:34314207-34314208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs148836111	chr12:34314281-34314282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs548912686	chr12:34314293-34314294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569031822	chr12:34314307-34314308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs567969938	chr12:34314315-34314316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
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
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34314000-34320600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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