Variant report

Variant	nsv962851
Chromosome Location	chr22:29084213-29088208
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	BATF	chr22:29088114-29088341	GM12878	blood:	n/a	n/a
2	BATF	chr22:29084039-29084373	GM12878	blood:	n/a	n/a
3	BCL11A	chr22:29088139-29088370	GM12878	blood:	n/a	chr22:29088204-29088212
4	BCL11A	chr22:29085983-29086182	GM12878	blood:	n/a	n/a
5	EBF1	chr22:29088118-29088424	GM12878	blood:	n/a	n/a
6	EBF1	chr22:29088142-29088441	GM12878	blood:	n/a	n/a
7	EP300	chr22:29084935-29085253	GM12878	blood:	n/a	chr22:29085052-29085066
8	FOSL2	chr22:29084991-29085406	HepG2	liver:	n/a	n/a
9	GABPA	chr22:29085955-29086187	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr22:29084220-29084253	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr22:29084368-29084394	Hela-S3	cervix:	n/a	n/a
12	POU2F2	chr22:29088102-29088449	GM12878	blood:	n/a	n/a
13	POU2F2	chr22:29085085-29085564	GM12878	blood:	n/a	chr22:29085482-29085497
14	POU2F2	chr22:29085835-29086245	GM12878	blood:	n/a	chr22:29085889-29085896 chr22:29085887-29085897 chr22:29086172-29086190 chr22:29086176-29086186 chr22:29085888-29085897 chr22:29085886-29085899 chr22:29086175-29086186 chr22:29086170-29086192 chr22:29085887-29085897
15	RXRA	chr22:29085034-29085440	HepG2	liver:	n/a	n/a
16	RXRA	chr22:29086814-29087181	HepG2	liver:	n/a	n/a
17	SIX5	chr22:29087904-29088321	K562	blood:	n/a	n/a
18	SIX5	chr22:29085300-29085516	K562	blood:	n/a	n/a
19	SP1	chr22:29088032-29088354	GM12878	blood:	n/a	n/a
20	SP1	chr22:29086844-29087089	HepG2	liver:	n/a	n/a
21	SP1	chr22:29088151-29088385	GM12878	blood:	n/a	n/a
22	SP1	chr22:29085064-29085493	HepG2	liver:	n/a	n/a
23	SPI1	chr22:29088066-29088321	GM12878	blood:	n/a	n/a
24	SPI1	chr22:29087010-29087184	K562	blood:	n/a	n/a
25	SPI1	chr22:29084109-29084309	GM12878	blood:	n/a	chr22:29084235-29084242 chr22:29084232-29084245 chr22:29084234-29084243
26	TCF12	chr22:29088063-29088244	HepG2	liver:	n/a	n/a
27	USF1	chr22:29085039-29085223	HepG2	liver:	n/a	n/a
28	ZBTB33	chr22:29087999-29088376	K562	blood:	n/a	n/a
29	ZBTB33	chr22:29086847-29087025	HepG2	liver:	n/a	n/a
30	ZBTB33	chr22:29088120-29088408	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC28-1	chr22:29085123-29085398	NONHSAT084651

Variant related genes	Relation type
CHEK2	TF binding region

Extended variants
information (count: 197 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:197 , 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	rs192274133	chr22:29084231-29084232	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182964430	chr22:29084247-29084248	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572191260	chr22:29084248-29084249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542807862	chr22:29084326-29084327	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554426567	chr22:29084342-29084343	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368704747	chr22:29084359-29084360	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113712283	chr22:29084360-29084361	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139467994	chr22:29084385-29084386	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62235682	chr22:29084417-29084418	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562580577	chr22:29084422-29084423	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577607974	chr22:29084455-29084456	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545341192	chr22:29084459-29084460	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62235683	chr22:29084486-29084487	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77090246	chr22:29084501-29084502	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560843072	chr22:29084548-29084549	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527940093	chr22:29084588-29084589	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149014632	chr22:29084594-29084595	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559259853	chr22:29084626-29084627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575333671	chr22:29084627-29084628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531461943	chr22:29084659-29084660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369560139	chr22:29084677-29084678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549886111	chr22:29084728-29084729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571301541	chr22:29084736-29084737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537394613	chr22:29084747-29084748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538632749	chr22:29084765-29084766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547368317	chr22:29084801-29084802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372257944	chr22:29084805-29084806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536130738	chr22:29084826-29084827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554779856	chr22:29084847-29084848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576144605	chr22:29084860-29084861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537992144	chr22:29084863-29084864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556236175	chr22:29084870-29084871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200110854	chr22:29084915-29084916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78041775	chr22:29084955-29084956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141350243	chr22:29084960-29084961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545012469	chr22:29084965-29084966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3963404	chr22:29084975-29084976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560254678	chr22:29084976-29084977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572719059	chr22:29085014-29085015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570134387	chr22:29085030-29085031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78525381	chr22:29085060-29085061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4035546	chr22:29085075-29085076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17881716	chr22:29085112-29085113	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs4035547	chr22:29085116-29085117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17882942	chr22:29085131-29085132	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs17883172	chr22:29085164-29085165	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs531931623	chr22:29085171-29085172	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs549945536	chr22:29085175-29085176	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs143965148	chr22:29085176-29085177	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs375281470	chr22:29085257-29085258	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	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
Breast cancer	22522925	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29076200-29089200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr22:29076200-29103000	Weak transcription	GM12878-XiMat	blood
3	chr22:29076200-29137600	Weak transcription	Esophagus	oesophagus
4	chr22:29076400-29085200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr22:29076400-29085400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:29076400-29085800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr22:29076400-29088400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:29076400-29088600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr22:29076400-29092800	Weak transcription	Primary B cells from cord blood	blood
10	chr22:29076400-29098000	Weak transcription	Ovary	ovary
11	chr22:29076400-29099400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:29076400-29102000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:29076400-29103000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr22:29076400-29105000	Weak transcription	HUVEC	blood vessel
15	chr22:29076400-29105200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:29076400-29105800	Weak transcription	NHLF	lung
17	chr22:29076400-29119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr22:29076400-29129400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr22:29076600-29085200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr22:29076600-29089400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:29076600-29094400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr22:29076600-29102200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr22:29077200-29105000	Weak transcription	Osteobl	bone
24	chr22:29077400-29102000	Weak transcription	Fetal Intestine Large	intestine
25	chr22:29077400-29106000	Weak transcription	A549	lung
26	chr22:29077600-29099000	Weak transcription	Hela-S3	cervix
27	chr22:29077600-29102800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr22:29079000-29089200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr22:29079600-29130200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr22:29079800-29089200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr22:29079800-29089200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr22:29080200-29087200	Weak transcription	Fetal Intestine Small	intestine
33	chr22:29080600-29092000	Weak transcription	NHEK	skin
34	chr22:29081200-29089400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr22:29081600-29089200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:29082200-29086400	Strong transcription	Fetal Stomach	stomach
37	chr22:29082200-29109800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr22:29082600-29086000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:29082600-29089200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr22:29082600-29092200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr22:29082800-29092000	Weak transcription	HepG2	liver
42	chr22:29082800-29106000	Weak transcription	Liver	Liver
43	chr22:29082800-29137600	Weak transcription	Spleen	Spleen
44	chr22:29083000-29084400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr22:29083000-29089400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr22:29083000-29126600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:29083200-29084600	Enhancers	Primary B cells from peripheral blood	blood
48	chr22:29083200-29085000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:29083400-29086000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr22:29083400-29089200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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