Variant report

Variant	nsv519170
Chromosome Location	chr22:32765949-32771017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:427)
Chromatin interactive
region (count:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FAM48A	chr22:32769015-32769198	GM12878	blood:	n/a	n/a
2	MYC	chr22:32769832-32769934	MCF-7	breast:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32767648-32767698	NHBE	bronchial:	n/a
2	chr22:32767094-32767144	SK-N-SH_RA	brain:	n/a
3	chr22:32768114-32768164	U87	brain:	n/a
4	chr22:32768114-32768164	Jurkat	blood:	n/a
5	chr22:32767162-32767212	GM12878	blood:	n/a
6	chr22:32767005-32767055	HEEpiC	esophagus:	n/a
7	chr22:32767162-32767212	NHBE	bronchial:	n/a
8	chr22:32768291-32768341	PFSK-1	brain:	n/a
9	chr22:32768291-32768341	GM12891	blood:	n/a
10	chr22:32768114-32768164	GM12891	blood:	n/a
11	chr22:32768114-32768164	HRCEpiC	kidney:	n/a
12	chr22:32767128-32767178	IMR90	lung:	fetal
13	chr22:32768291-32768341	HUVEC	blood vessel:	n/a
14	chr22:32767005-32767055	MCF-7	breast:	n/a
15	chr22:32767648-32767698	A549	lung:	n/a
16	chr22:32767648-32767698	HEEpiC	esophagus:	n/a
17	chr22:32767648-32767698	NH-A	brain:	n/a
18	chr22:32767128-32767178	SKMC	muscle:	n/a
19	chr22:32768291-32768341	GM06990	blood:	n/a
20	chr22:32767648-32767698	HCT-116	colon:	n/a
21	chr22:32768291-32768341	K562	blood:	n/a
22	chr22:32767005-32767055	ovcar-3	ovarian:	n/a
23	chr22:32767162-32767212	BJ	skin:	n/a
24	chr22:32767128-32767178	GM19239	blood:	n/a
25	chr22:32768114-32768164	NHDF-neo	bronchial:	n/a
26	chr22:32767162-32767212	H1-hESC	embryonic stem cell:	embryo
27	chr22:32768291-32768341	AG09319	gingival:	n/a
28	chr22:32767094-32767144	GM19239	blood:	n/a
29	chr22:32767128-32767178	ovcar-3	ovarian:	n/a
30	chr22:32767162-32767212	HEEpiC	esophagus:	n/a
31	chr22:32767005-32767055	AoSMC	blood vessel:	n/a
32	chr22:32767094-32767144	LNCaP	prostate:	n/a
33	chr22:32767648-32767698	NB4	blood:	n/a
34	chr22:32767005-32767055	HIPEpiC	eye:	n/a
35	chr22:32768291-32768341	HEK293	kidney:	embryo
36	chr22:32768291-32768341	NHBE	bronchial:	n/a
37	chr22:32767005-32767055	H1-hESC	embryonic stem cell:	embryo
38	chr22:32768291-32768341	AG04449	skin:	fetal
39	chr22:32767128-32767178	BJ	skin:	n/a
40	chr22:32767005-32767055	BJ	skin:	n/a
41	chr22:32767128-32767178	AG09309	skin:	n/a
42	chr22:32767128-32767178	HL-60	blood:	n/a
43	chr22:32767648-32767698	HUVEC	blood vessel:	n/a
44	chr22:32767162-32767212	GM12891	blood:	n/a
45	chr22:32767128-32767178	A549	lung:	n/a
46	chr22:32767128-32767178	Hepatocyte	liver:	n/a
47	chr22:32767005-32767055	HRCEpiC	kidney:	n/a
48	chr22:32767094-32767144	NHDF-neo	bronchial:	n/a
49	chr22:32767128-32767178	HPAEpiC	pulmonary alveolar:	n/a
50	chr22:32767005-32767055	HCT-116	colon:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31829733-31836635..22:32764253-32784733	K562	blood:
2	22:31936958-31958600..22:32764253-32784733	K562	blood:
3	22:32360288-32405313..22:32764253-32784733	K562	blood:
4	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
5	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C22orf28-1	chr22:32766886-32767063	NR_001450
2	lnc-C22orf28-1	chr22:32767185-32767251	NR_104232
3	lnc-C22orf28-1	chr22:32766886-32766928	NR_104232
4	lnc-C22orf28-1	chr22:32766886-32767063	NR_002596

No data

Variant related genes	Relation type
ENSG00000230736	TF binding region
RFPL3S	TF binding region
IGLVIVOR22-2	TF binding region
ENSG00000230736	CpG island
RFPL3S	CpG island
IGLVIVOR22-2	CpG island
ENSG00000232707	chromatin interactions
ENSG00000240647	chromatin interactions
ENSG00000234479	chromatin interactions
ENSG00000230866	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000214093	chromatin interactions
ENSG00000239674	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12484208	chr22:32765949-32765950	Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs5998461	chr22:32765961-32765962	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs190072421	chr22:32765964-32765965	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs193039977	chr22:32765991-32765992	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs185102099	chr22:32766180-32766181	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs544055082	chr22:32766204-32766205	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs5754031	chr22:32766208-32766209	Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs56995925	chr22:32766238-32766239	Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs5754032	chr22:32766298-32766299	Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs548021771	chr22:32766358-32766359	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs528868795	chr22:32766363-32766364	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs542283473	chr22:32766373-32766374	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs562267577	chr22:32766398-32766399	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs188779586	chr22:32766424-32766425	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs551672251	chr22:32766449-32766450	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs545864420	chr22:32766466-32766467	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs5754033	chr22:32766469-32766470	Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs527931940	chr22:32766493-32766494	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs548077630	chr22:32766495-32766496	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs16990327	chr22:32766528-32766529	Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181260785	chr22:32766599-32766600	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs373293363	chr22:32766601-32766602	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs200801902	chr22:32766654-32766655	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs570149270	chr22:32766664-32766665	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs146037607	chr22:32766717-32766718	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs76235940	chr22:32766745-32766746	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs34964305	chr22:32766764-32766765	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs548168544	chr22:32766820-32766821	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs139829999	chr22:32766883-32766884	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs12168441	chr22:32766927-32766928	Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs553669339	chr22:32766930-32766931	Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
32	rs527510275	chr22:32766972-32766973	Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
33	rs112044371	chr22:32766979-32766980	Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
34	rs73166382	chr22:32766985-32766986	Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185462715	chr22:32766991-32766992	Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
36	rs562182596	chr22:32767058-32767059	Active TSS Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
37	rs531301644	chr22:32767128-32767129	Active TSS Weak transcription	CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs375159607	chr22:32767140-32767141	Active TSS Weak transcription	CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs9609517	chr22:32767142-32767143	Active TSS Weak transcription	CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs28391349	chr22:32767195-32767196	Active TSS Weak transcription	CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
41	rs565294435	chr22:32767239-32767240	Active TSS Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
42	rs5998462	chr22:32767243-32767244	Active TSS Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547745443	chr22:32767259-32767260	Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs561542108	chr22:32767304-32767305	Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs368792849	chr22:32767305-32767306	Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs530452325	chr22:32767349-32767350	Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs550189687	chr22:32767371-32767372	Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs370219143	chr22:32767381-32767382	Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs140096863	chr22:32767426-32767427	Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs569140623	chr22:32767430-32767431	Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
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
Cancer	20164919	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32755800-32781600	Weak transcription	Ovary	ovary
2	chr22:32762800-32788200	Weak transcription	Psoas Muscle	Psoas
3	chr22:32767000-32767600	Active TSS	Placenta	Placenta

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