Variant report

Variant	nsv966046
Chromosome Location	chr22:29822806-29830680
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	CEBPB	chr22:29828110-29828269	K562	blood:	n/a	n/a
2	CEBPB	chr22:29828051-29828325	K562	blood:	n/a	n/a
3	CTCF	chr22:29823008-29823185	K562	blood:	n/a	chr22:29823094-29823112
4	CTCF	chr22:29825832-29825926	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr22:29823099-29823128	HepG2	liver:	n/a	n/a
6	CTCF	chr22:29823078-29823172	MCF-7	breast:	n/a	chr22:29823094-29823112
7	CTCF	chr22:29825220-29825370	BE2_C	brain:	n/a	n/a
8	CTCF	chr22:29825837-29825925	K562	blood:	n/a	n/a
9	CTCF	chr22:29828159-29828241	Lung_OC	lung:	n/a	n/a
10	CTCF	chr22:29823103-29823162	MCF-7	breast:	n/a	n/a
11	CTCF	chr22:29823000-29823150	K562	blood:	n/a	chr22:29823094-29823112
12	CTCF	chr22:29823064-29823140	Hela-S3	cervix:	n/a	chr22:29823094-29823112
13	CTCF	chr22:29823057-29823128	MCF-7	breast:	n/a	chr22:29823094-29823112
14	CTCF	chr22:29823000-29823150	MCF-7	breast:	n/a	chr22:29823094-29823112
15	CTCF	chr22:29825740-29825890	BE2_C	brain:	n/a	n/a
16	CTCF	chr22:29825861-29825916	HepG2	liver:	n/a	n/a
17	FOXA1	chr22:29830287-29830533	HepG2	liver:	n/a	n/a
18	FOXA1	chr22:29830337-29830586	HepG2	liver:	n/a	n/a
19	FOXA1	chr22:29830207-29830611	HepG2	liver:	n/a	n/a
20	FOXA2	chr22:29830235-29830636	A549	lung:	n/a	n/a
21	FOXA2	chr22:29830295-29830546	HepG2	liver:	n/a	n/a
22	GATA2	chr22:29828168-29828428	K562	blood:	n/a	n/a
23	JUN	chr22:29830264-29830583	HepG2	liver:	n/a	chr22:29830428-29830441 chr22:29830432-29830441
24	JUND	chr22:29830267-29830621	HepG2	liver:	n/a	chr22:29830432-29830441
25	MAFK	chr22:29824794-29824910	HepG2	liver:	n/a	n/a
26	POLR2A	chr22:29829123-29829502	K562	blood:	n/a	n/a
27	POLR2A	chr22:29829736-29830085	K562	blood:	n/a	n/a
28	RAD21	chr22:29825756-29826044	H1-hESC	embryonic stem cell:	n/a	n/a
29	RAD21	chr22:29825721-29825987	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr22:29825793-29826125	HCT-116	colon:	n/a	n/a
31	RAD21	chr22:29825794-29826055	Hela-S3	cervix:	n/a	n/a
32	RAD21	chr22:29825741-29826023	H1-hESC	embryonic stem cell:	n/a	n/a
33	STAT3	chr22:29830558-29830720	MCF10A-Er-Src	breast:	n/a	n/a
34	TAL1	chr22:29828156-29828165	K562	blood:	n/a	n/a
35	TEAD4	chr22:29828028-29828332	K562	blood:	n/a	n/a
36	YY1	chr22:29827994-29828315	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29777011..29779930-chr22:29821335..29822984,2	K562	blood:

Variant related genes	Relation type
ENSG00000242156	TF binding region
RFPL1	TF binding region
AP1B1	TF binding region

Extended variants
information (count: 224 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:224 , 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	rs573047386	chr22:29822842-29822843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs5763228	chr22:29822848-29822849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552466473	chr22:29822882-29822883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9620891	chr22:29822900-29822901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191730483	chr22:29822901-29822902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553329145	chr22:29822935-29822936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs5763229	chr22:29822936-29822937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535931548	chr22:29822940-29822941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183382039	chr22:29822978-29822979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55914705	chr22:29823034-29823035	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs187586947	chr22:29823098-29823099	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs558084533	chr22:29823099-29823100	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs528147452	chr22:29823125-29823126	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs540270410	chr22:29823129-29823130	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs192801203	chr22:29823136-29823137	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs9625796	chr22:29823159-29823160	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs140705208	chr22:29823174-29823175	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs544204548	chr22:29823175-29823176	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs531018709	chr22:29823178-29823179	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs372636815	chr22:29823179-29823180	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs376446106	chr22:29823188-29823189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552306643	chr22:29823194-29823195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115904446	chr22:29823272-29823273	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528752116	chr22:29823284-29823285	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555126675	chr22:29823289-29823290	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs60853494	chr22:29823292-29823293	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546714355	chr22:29823307-29823308	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568422948	chr22:29823323-29823324	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185412909	chr22:29823341-29823342	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535456830	chr22:29823385-29823386	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557446360	chr22:29823387-29823388	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554503031	chr22:29823437-29823438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574633690	chr22:29823446-29823447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs5763230	chr22:29823450-29823451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370629316	chr22:29823464-29823465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569325283	chr22:29823486-29823487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539688975	chr22:29823500-29823501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540173260	chr22:29823508-29823509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376052533	chr22:29823539-29823540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557973510	chr22:29823583-29823584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573206276	chr22:29823584-29823585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76403836	chr22:29823615-29823616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs5752914	chr22:29823688-29823689	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs5752915	chr22:29823768-29823769	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs543820359	chr22:29823822-29823823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562606958	chr22:29823839-29823840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117876558	chr22:29823860-29823861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535662209	chr22:29823864-29823865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564325755	chr22:29823871-29823872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528789136	chr22:29823878-29823879	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	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
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29811600-29823200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:29823000-29824000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr22:29823200-29823400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:29823200-29824000	Enhancers	NHDF-Ad	bronchial
5	chr22:29823400-29823600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:29826600-29827600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:29826800-29827400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr22:29826800-29827400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:29826800-29828400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr22:29827000-29827400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:29827000-29827600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr22:29827200-29827400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr22:29827200-29827600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr22:29827200-29828400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr22:29827200-29828400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr22:29827200-29828800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr22:29827200-29828800	Enhancers	Fetal Intestine Small	intestine
18	chr22:29827200-29829000	Enhancers	Fetal Intestine Large	intestine
19	chr22:29827400-29828200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr22:29827600-29827800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr22:29827600-29828000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr22:29827600-29828600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr22:29827600-29828600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:29827800-29828000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr22:29828000-29828200	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr22:29828000-29828600	Enhancers	K562	blood
27	chr22:29828000-29829000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr22:29828200-29828400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr22:29828200-29828600	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr22:29828400-29829000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr22:29828600-29828800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr22:29828600-29828800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr22:29828600-29829000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr22:29828600-29829000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr22:29828800-29829000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr22:29829000-29831800	Weak transcription	Fetal Intestine Large	intestine
37	chr22:29830000-29830200	Enhancers	Fetal Kidney	kidney
38	chr22:29830400-29831400	Weak transcription	Fetal Kidney	kidney
39	chr22:29830600-29831400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr22:29830600-29831600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links