Variant report

Variant	nsv964623
Chromosome Location	chr22:32432160-32436327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr22:32432898-32433045	K562	blood:	n/a	n/a
2	CTCF	chr22:32435537-32435795	T-47D	breast:	n/a	n/a
3	CTCF	chr22:32435703-32435745	GM20000	blood:	n/a	n/a
4	CTCF	chr22:32435748-32435775	GM20000	blood:	n/a	n/a
5	EP300	chr22:32435461-32435721	T-47D	breast:	n/a	n/a
6	GATA2	chr22:32436259-32437089	SH-SY5Y	brain:	n/a	chr22:32436655-32436664 chr22:32436654-32436664 chr22:32436651-32436667
7	GATA2	chr22:32432720-32433131	SH-SY5Y	brain:	n/a	n/a
8	GATA3	chr22:32432776-32432973	SH-SY5Y	brain:	n/a	n/a
9	POLR2A	chr22:32432880-32432882	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr22:32434504-32434639	MCF10A-Er-Src	breast:	n/a	n/a
11	SP1	chr22:32435445-32435725	H1-hESC	embryonic stem cell:	n/a	n/a
12	USF2	chr22:32435338-32435517	HepG2	liver:	n/a	n/a
13	ZBTB33	chr22:32435385-32435736	K562	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32435499-32435549	HRCEpiC	kidney:	n/a
2	chr22:32435499-32435549	HRCEpiC	kidney:	n/a
3	chr22:32435515-32435565	GM19239	blood:	n/a
4	chr22:32435515-32435565	HCPEpiC	choroid plexus:	n/a
5	chr22:32435553-32435603	HEK293	kidney:	embryo
6	chr22:32435499-32435549	HAEpiC	amniotic membrane:	n/a
7	chr22:32435553-32435603	Hela-S3	cervix:	n/a
8	chr22:32435515-32435565	SK-N-MC	brain:	n/a
9	chr22:32435515-32435565	PANC-1	pancreas:	n/a
10	chr22:32435553-32435603	T-47D	breast:	n/a
11	chr22:32435639-32435689	NH-A	brain:	n/a
12	chr22:32435515-32435565	HRCEpiC	kidney:	n/a
13	chr22:32435639-32435689	HCM	heart:	n/a
14	chr22:32435515-32435565	Caco-2	colon:	n/a
15	chr22:32435515-32435565	AoSMC	blood vessel:	n/a
16	chr22:32435639-32435689	PANC-1	pancreas:	n/a
17	chr22:32435499-32435549	SAEC	small airway:	n/a
18	chr22:32435499-32435549	PANC-1	pancreas:	n/a
19	chr22:32435515-32435565	CMK	blood:	n/a
20	chr22:32435499-32435549	U87	brain:	n/a
21	chr22:32435515-32435565	HL-60	blood:	n/a
22	chr22:32435614-32435664	PFSK-1	brain:	n/a
23	chr22:32435515-32435565	HMEC	breast:	n/a
24	chr22:32435553-32435603	A549	lung:	n/a
25	chr22:32435639-32435689	MCF-7	breast:	n/a
26	chr22:32435499-32435549	SK-N-SH	brain:	n/a
27	chr22:32435499-32435549	NB4	blood:	n/a
28	chr22:32435553-32435603	K562	blood:	n/a
29	chr22:32435553-32435603	LNCaP	prostate:	n/a
30	chr22:32435553-32435603	GM06990	blood:	n/a
31	chr22:32435499-32435549	IMR90	lung:	fetal
32	chr22:32435553-32435603	U87	brain:	n/a
33	chr22:32435639-32435689	HPAEpiC	pulmonary alveolar:	n/a
34	chr22:32435553-32435603	NT2-D1	testis:	n/a
35	chr22:32435499-32435549	HEK293	kidney:	embryo
36	chr22:32435499-32435549	HPAEpiC	pulmonary alveolar:	n/a
37	chr22:32435639-32435689	ovcar-3	ovarian:	n/a
38	chr22:32435614-32435664	ECC-1	luminal epithelium:	n/a
39	chr22:32435515-32435565	BJ	skin:	n/a
40	chr22:32435614-32435664	U87	brain:	n/a
41	chr22:32435639-32435689	GM06990	blood:	n/a
42	chr22:32435614-32435664	HMEC	breast:	n/a
43	chr22:32435515-32435565	BE2_C	brain:	n/a
44	chr22:32435553-32435603	H1-hESC	embryonic stem cell:	embryo
45	chr22:32435614-32435664	SAEC	small airway:	n/a
46	chr22:32435639-32435689	NHDF-neo	bronchial:	n/a
47	chr22:32435553-32435603	HepG2	liver:	n/a
48	chr22:32435614-32435664	Hela-S3	cervix:	n/a
49	chr22:32435639-32435689	GM19239	blood:	n/a
50	chr22:32435553-32435603	BE2_C	brain:	n/a

No data

Variant related genes	Relation type
SLC5A1	TF binding region
ENSG00000232346	TF binding region
SLC5A1	CpG island
ENSG00000232346	CpG island

Extended variants
information (count: 196 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:196 , 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	rs79871418	chr22:32432162-32432163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77370421	chr22:32432202-32432203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117980825	chr22:32432218-32432219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147663413	chr22:32432255-32432256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549179428	chr22:32432262-32432263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142357006	chr22:32432271-32432272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187323575	chr22:32432288-32432289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550400159	chr22:32432299-32432300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570468448	chr22:32432308-32432309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372691287	chr22:32432323-32432324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539047001	chr22:32432357-32432358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111679121	chr22:32432358-32432359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75988210	chr22:32432374-32432375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530311744	chr22:32432389-32432390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146541889	chr22:32432439-32432440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535715751	chr22:32432460-32432461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555610255	chr22:32432466-32432467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538385130	chr22:32432469-32432470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4583561	chr22:32432484-32432485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190976065	chr22:32432562-32432563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577997399	chr22:32432599-32432600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550143185	chr22:32432629-32432630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151263936	chr22:32432630-32432631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560501605	chr22:32432644-32432645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs130259	chr22:32432646-32432647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112874059	chr22:32432697-32432698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562786406	chr22:32432749-32432750	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs138281184	chr22:32432767-32432768	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs183091406	chr22:32432781-32432782	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs564003244	chr22:32432867-32432868	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs114521776	chr22:32432956-32432957	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs187427056	chr22:32432983-32432984	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs566436335	chr22:32432998-32432999	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs529208168	chr22:32433021-32433022	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs200806613	chr22:32433054-32433055	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs143047041	chr22:32433064-32433065	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs116859544	chr22:32433155-32433156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145179280	chr22:32433158-32433159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573431391	chr22:32433199-32433200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558261810	chr22:32433213-32433214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs130260	chr22:32433269-32433270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534256980	chr22:32433303-32433304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73391018	chr22:32433364-32433365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573692032	chr22:32433381-32433382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542954328	chr22:32433420-32433421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556424676	chr22:32433492-32433493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141575375	chr22:32433499-32433500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371099865	chr22:32433509-32433510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200838910	chr22:32433528-32433529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545292758	chr22:32433550-32433551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32431200-32432200	Enhancers	Fetal Intestine Small	intestine
2	chr22:32432200-32437600	Weak transcription	Fetal Intestine Small	intestine
3	chr22:32432800-32433200	Enhancers	Placenta	Placenta
4	chr22:32436200-32436400	Active TSS	Gastric	stomach
5	chr22:32436200-32437000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:32436200-32437200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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