Variant report

Variant	nsv961540
Chromosome Location	chr2:188683895-188692308
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:188684551-188684613	HepG2	liver:	n/a	n/a
2	BACH1	chr2:188689902-188690134	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr2:188691096-188691299	Hela-S3	cervix:	n/a	n/a
4	EP300	chr2:188690788-188691025	SK-N-SH_RA	brain:	n/a	n/a
5	FAM48A	chr2:188684505-188684598	GM12878	blood:	n/a	n/a
6	FOXA1	chr2:188684391-188684672	HepG2	liver:	n/a	n/a
7	FOXA2	chr2:188684288-188684749	A549	lung:	n/a	n/a
8	FOXA2	chr2:188684433-188684658	HepG2	liver:	n/a	n/a
9	GATA3	chr2:188690673-188691253	SK-N-SH	brain:	n/a	n/a
10	HEY1	chr2:188689992-188690187	HepG2	liver:	n/a	n/a
11	JUN	chr2:188684459-188684698	HepG2	liver:	n/a	chr2:188684609-188684622
12	JUND	chr2:188684486-188684713	HepG2	liver:	n/a	n/a
13	NFIC	chr2:188690771-188691079	SK-N-SH	brain:	n/a	n/a
14	NFIC	chr2:188690603-188691275	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr2:188692060-188692124	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr2:188684402-188684491	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:188690045-188690161	GM12878	blood:	n/a	n/a
18	REST	chr2:188690814-188691048	H1-hESC	embryonic stem cell:	n/a	n/a
19	REST	chr2:188690785-188690962	H1-hESC	embryonic stem cell:	n/a	n/a
20	TCF7L2	chr2:188690486-188691430	Hela-S3	cervix:	n/a	n/a
21	TEAD4	chr2:188690704-188691142	SK-N-SH	brain:	n/a	n/a
22	TEAD4	chr2:188690830-188691082	ECC-1	luminal epithelium:	n/a	n/a
23	TEAD4	chr2:188690716-188691073	ECC-1	luminal epithelium:	n/a	n/a
24	TEAD4	chr2:188690813-188691102	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:188689981-188690031	AoSMC	blood vessel:	n/a
2	chr2:188689981-188690031	GM19239	blood:	n/a
3	chr2:188689981-188690031	HRPEpiC	eye:	n/a
4	chr2:188689981-188690031	HAEpiC	amniotic membrane:	n/a
5	chr2:188689981-188690031	MCF-7	breast:	n/a
6	chr2:188689981-188690031	NHDF-neo	bronchial:	n/a
7	chr2:188689981-188690031	NT2-D1	testis:	n/a
8	chr2:188689981-188690031	HRE	kidney:	n/a
9	chr2:188689981-188690031	Caco-2	colon:	n/a
10	chr2:188689981-188690031	PANC-1	pancreas:	n/a
11	chr2:188689981-188690031	ECC-1	luminal epithelium:	n/a
12	chr2:188689981-188690031	Hela-S3	cervix:	n/a
13	chr2:188689981-188690031	HMEC	breast:	n/a
14	chr2:188689981-188690031	ProgFib	skin:	n/a
15	chr2:188689981-188690031	ovcar-3	ovarian:	n/a
16	chr2:188689981-188690031	GM12892	blood:	n/a
17	chr2:188689981-188690031	IMR90	lung:	fetal
18	chr2:188689981-188690031	AG09319	gingival:	n/a
19	chr2:188689981-188690031	SK-N-SH_RA	brain:	n/a
20	chr2:188689981-188690031	NHBE	bronchial:	n/a
21	chr2:188689981-188690031	GM12891	blood:	n/a
22	chr2:188689981-188690031	PFSK-1	brain:	n/a
23	chr2:188689981-188690031	GM12878	blood:	n/a
24	chr2:188689981-188690031	SKMC	muscle:	n/a
25	chr2:188689981-188690031	HCM	heart:	n/a
26	chr2:188689981-188690031	HCF	heart:	n/a
27	chr2:188689981-188690031	K562	blood:	n/a
28	chr2:188689981-188690031	NH-A	brain:	n/a
29	chr2:188689981-188690031	HEEpiC	esophagus:	n/a
30	chr2:188689981-188690031	AG04450	lung:	fetal
31	chr2:188689981-188690031	CMK	blood:	n/a
32	chr2:188689981-188690031	HIPEpiC	eye:	n/a
33	chr2:188689981-188690031	Hepatocyte	liver:	n/a
34	chr2:188689981-188690031	HEK293	kidney:	embryo
35	chr2:188689981-188690031	BE2_C	brain:	n/a
36	chr2:188689981-188690031	PrEC	prostate:	n/a
37	chr2:188689981-188690031	HUVEC	blood vessel:	n/a
38	chr2:188689981-188690031	MCF10A-Er-Src	breast:	n/a
39	chr2:188689981-188690031	HCPEpiC	choroid plexus:	n/a
40	chr2:188689981-188690031	RPTEC	kidney:	n/a
41	chr2:188689981-188690031	HepG2	liver:	n/a
42	chr2:188689981-188690031	HCT-116	colon:	n/a
43	chr2:188689981-188690031	HRCEpiC	kidney:	n/a
44	chr2:188689981-188690031	HNPCEpiC	eye:	n/a
45	chr2:188689981-188690031	BJ	skin:	n/a
46	chr2:188689981-188690031	NB4	blood:	n/a
47	chr2:188689981-188690031	AG10803	skin:	n/a
48	chr2:188689981-188690031	AG09309	skin:	n/a
49	chr2:188689981-188690031	H1-hESC	embryonic stem cell:	embryo
50	chr2:188689981-188690031	AG04449	skin:	fetal

No data

Variant related genes	Relation type
ST13P2	TF binding region
ST13P2	CpG island

Extended variants
information (count: 141 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369333880	chr2:188683938-188683939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554930086	chr2:188683940-188683941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560561308	chr2:188683948-188683949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527798837	chr2:188684016-188684017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192210338	chr2:188684025-188684026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573331841	chr2:188684042-188684043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13013719	chr2:188684087-188684088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531997648	chr2:188684095-188684096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13013731	chr2:188684109-188684110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12987136	chr2:188684139-188684140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13013748	chr2:188684140-188684141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550191928	chr2:188684187-188684188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12987141	chr2:188684191-188684192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12987672	chr2:188684195-188684196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571734733	chr2:188684196-188684197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13013942	chr2:188684202-188684203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12987677	chr2:188684203-188684204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571935699	chr2:188684204-188684205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538251673	chr2:188684237-188684238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558101192	chr2:188684258-188684259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184538759	chr2:188684289-188684290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145141414	chr2:188684338-188684339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190225781	chr2:188684444-188684445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139024826	chr2:188684464-188684465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78275032	chr2:188684495-188684496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4471853	chr2:188684507-188684508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182412506	chr2:188684519-188684520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558573668	chr2:188684527-188684528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577718079	chr2:188684562-188684563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115535485	chr2:188684588-188684589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545035642	chr2:188684647-188684648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73038574	chr2:188684656-188684657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549311954	chr2:188684709-188684710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185859514	chr2:188684737-188684738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6744447	chr2:188684741-188684742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558356137	chr2:188684752-188684753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs5837056	chr2:188684759-188684760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563538942	chr2:188684782-188684783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113429964	chr2:188684806-188684807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200707471	chr2:188684812-188684813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531789734	chr2:188684815-188684816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113120952	chr2:188684816-188684817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544041507	chr2:188684821-188684822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375521856	chr2:188684822-188684823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59908025	chr2:188684873-188684874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189105294	chr2:188684897-188684898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541620347	chr2:188684898-188684899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546941401	chr2:188684915-188684916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181148010	chr2:188684916-188684917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145829437	chr2:188684936-188684937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188680400-188684000	Weak transcription	A549	lung
2	chr2:188684000-188684200	Enhancers	A549	lung
3	chr2:188684200-188685000	Weak transcription	A549	lung
4	chr2:188685000-188685400	Enhancers	A549	lung
5	chr2:188690000-188691200	Enhancers	Psoas Muscle	Psoas
6	chr2:188690200-188691200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:188690400-188691200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:188690600-188691000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:188690600-188691000	Enhancers	Hela-S3	cervix
10	chr2:188690600-188691200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:188692200-188692800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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