Variant report

Variant	nsv560348
Chromosome Location	chr12:117630765-117643067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr12:117639932-117640186	K562	blood:	n/a	n/a
2	CBX3	chr12:117631749-117632109	K562	blood:	n/a	n/a
3	CTCF	chr12:117638025-117638116	GM20000	blood:	n/a	n/a
4	CTCF	chr12:117640050-117640103	Fibrobl	skin:	n/a	n/a
5	CTCF	chr12:117639800-117639950	GM06990	blood:	n/a	n/a
6	FOS	chr12:117632839-117633164	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr12:117632844-117633163	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:117632841-117633109	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr12:117632844-117633239	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL2	chr12:117632741-117633171	HepG2	liver:	n/a	n/a
11	FOXA1	chr12:117641744-117641925	T-47D	breast:	n/a	n/a
12	JUND	chr12:117632843-117633071	HepG2	liver:	n/a	n/a
13	KAP1	chr12:117631759-117632086	K562	blood:	n/a	n/a
14	MYC	chr12:117633048-117633068	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr12:117632659-117632824	H1-hESC	embryonic stem cell:	n/a	n/a
16	RXRA	chr12:117632652-117632896	HepG2	liver:	n/a	n/a
17	SP1	chr12:117632672-117632858	HepG2	liver:	n/a	n/a
18	STAT3	chr12:117632961-117633042	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr12:117632963-117633026	MCF10A-Er-Src	breast:	n/a	n/a
20	ZNF263	chr12:117637708-117638182	HEK293-T-REx	kidney:	n/a	chr12:117637880-117637901 chr12:117637846-117637867
21	ZNF263	chr12:117635080-117635407	HEK293-T-REx	kidney:	n/a	chr12:117635235-117635256
22	ZNF384	chr12:117632847-117633187	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:117630719-117630769	AG09309	skin:	n/a
2	chr12:117630719-117630769	AG04449	skin:	fetal
3	chr12:117630719-117630769	HUVEC	blood vessel:	n/a
4	chr12:117630719-117630769	BE2_C	brain:	n/a
5	chr12:117630719-117630769	Jurkat	blood:	n/a
6	chr12:117630719-117630769	U87	brain:	n/a
7	chr12:117630719-117630769	Caco-2	colon:	n/a
8	chr12:117630719-117630769	SK-N-MC	brain:	n/a
9	chr12:117630719-117630769	Hela-S3	cervix:	n/a
10	chr12:117630719-117630769	SK-N-SH_RA	brain:	n/a
11	chr12:117630719-117630769	SAEC	small airway:	n/a
12	chr12:117630719-117630769	NB4	blood:	n/a
13	chr12:117630719-117630769	HRCEpiC	kidney:	n/a
14	chr12:117630719-117630769	AG09319	gingival:	n/a
15	chr12:117630719-117630769	GM12878	blood:	n/a
16	chr12:117630719-117630769	PFSK-1	brain:	n/a
17	chr12:117630719-117630769	T-47D	breast:	n/a
18	chr12:117630719-117630769	HNPCEpiC	eye:	n/a
19	chr12:117630719-117630769	HCT-116	colon:	n/a
20	chr12:117630719-117630769	GM06990	blood:	n/a
21	chr12:117630719-117630769	SKMC	muscle:	n/a
22	chr12:117630719-117630769	NT2-D1	testis:	n/a
23	chr12:117630719-117630769	HAEpiC	amniotic membrane:	n/a
24	chr12:117630719-117630769	IMR90	lung:	fetal
25	chr12:117630719-117630769	LNCaP	prostate:	n/a
26	chr12:117630719-117630769	BJ	skin:	n/a
27	chr12:117630719-117630769	NHDF-neo	bronchial:	n/a
28	chr12:117630719-117630769	GM19239	blood:	n/a
29	chr12:117630719-117630769	HPAEpiC	pulmonary alveolar:	n/a
30	chr12:117630719-117630769	CMK	blood:	n/a
31	chr12:117630719-117630769	AG04450	lung:	fetal
32	chr12:117630719-117630769	HCF	heart:	n/a
33	chr12:117630719-117630769	HRPEpiC	eye:	n/a
34	chr12:117630719-117630769	NHBE	bronchial:	n/a
35	chr12:117630719-117630769	HEK293	kidney:	embryo
36	chr12:117630719-117630769	AG10803	skin:	n/a
37	chr12:117630719-117630769	A549	lung:	n/a
38	chr12:117630719-117630769	Hepatocyte	liver:	n/a
39	chr12:117630719-117630769	HMEC	breast:	n/a
40	chr12:117630719-117630769	ovcar-3	ovarian:	n/a
41	chr12:117630719-117630769	NH-A	brain:	n/a
42	chr12:117630719-117630769	HEEpiC	esophagus:	n/a
43	chr12:117630719-117630769	PANC-1	pancreas:	n/a
44	chr12:117630719-117630769	ECC-1	luminal epithelium:	n/a
45	chr12:117630719-117630769	GM12891	blood:	n/a
46	chr12:117630719-117630769	H1-hESC	embryonic stem cell:	embryo
47	chr12:117630719-117630769	MCF10A-Er-Src	breast:	n/a
48	chr12:117630719-117630769	HRE	kidney:	n/a
49	chr12:117630719-117630769	PrEC	prostate:	n/a
50	chr12:117630719-117630769	ProgFib	skin:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117638881..117640489-chr12:117642610..117644525,2	K562	blood:
2	chr12:117638881..117640489-chr12:117642610..117644525,2	K562	blood:

No data

Variant related genes	Relation type
FBXO21	TF binding region
FBXO21	CpG island

Extended variants
information (count: 547 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4492907	chr12:117630765-117630766	Weak transcription	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377558303	chr12:117630799-117630800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111624381	chr12:117630802-117630803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184832496	chr12:117630857-117630858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188406753	chr12:117630859-117630860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192239154	chr12:117630864-117630865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547505131	chr12:117630869-117630870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4767517	chr12:117630902-117630903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs149319523	chr12:117630931-117630932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs860982	chr12:117630950-117630951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202084155	chr12:117630976-117630977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531759963	chr12:117630978-117630979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78929539	chr12:117630979-117630980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61613780	chr12:117630980-117630981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548855913	chr12:117630986-117630987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569178302	chr12:117631023-117631024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs861637	chr12:117631028-117631029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537621876	chr12:117631037-117631038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs861636	chr12:117631048-117631049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144463413	chr12:117631051-117631052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374883717	chr12:117631058-117631059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571369629	chr12:117631072-117631073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533857974	chr12:117631075-117631076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73393668	chr12:117631111-117631112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551600908	chr12:117631135-117631136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548553580	chr12:117631159-117631160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573641850	chr12:117631182-117631183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570067788	chr12:117631185-117631186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536296967	chr12:117631224-117631225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556894097	chr12:117631303-117631304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568372517	chr12:117631314-117631315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183794837	chr12:117631335-117631336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545391739	chr12:117631348-117631349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565445977	chr12:117631403-117631404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11068399	chr12:117631437-117631438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529967467	chr12:117631487-117631488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368027153	chr12:117631505-117631506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541085578	chr12:117631507-117631508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561086180	chr12:117631532-117631533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147980502	chr12:117631636-117631637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549790412	chr12:117631781-117631782	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs562625856	chr12:117631817-117631818	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs10850799	chr12:117631861-117631862	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs551408819	chr12:117631991-117631992	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs141604461	chr12:117632005-117632006	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs533988907	chr12:117632019-117632020	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs566636776	chr12:117632020-117632021	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs73206082	chr12:117632026-117632027	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs76644528	chr12:117632070-117632071	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs536234335	chr12:117632089-117632090	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117628400-117635200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:117628800-117633200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:117629000-117641000	Weak transcription	Spleen	Spleen
4	chr12:117630400-117633200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:117630600-117633000	Weak transcription	Hela-S3	cervix
6	chr12:117633000-117633400	Flanking Active TSS	Hela-S3	cervix
7	chr12:117633200-117633600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:117633200-117633600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:117633400-117633600	Enhancers	Hela-S3	cervix
10	chr12:117633600-117634000	Weak transcription	Hela-S3	cervix
11	chr12:117633600-117635200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:117633600-117645000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:117633800-117634000	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr12:117634800-117635400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:117635200-117635400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:117635200-117635600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:117640400-117640600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:117640400-117640600	Enhancers	HSMM	muscle
19	chr12:117642200-117648000	Weak transcription	Right Atrium	heart
20	chr12:117642800-117643000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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