Variant report

Variant	esv3381407
Chromosome Location	chr22:29089852-29092950
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	POU2F2	chr22:29089847-29090184	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29090716..29093047-chr22:29154418..29156765,2	K562	blood:

Variant related genes	Relation type
CHEK2	TF binding region

Extended variants
information (count: 141 )
Associated
traits (count: 70 )

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	rs544499547	chr22:29089853-29089854	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs556432704	chr22:29089858-29089859	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs577904812	chr22:29089868-29089869	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139885343	chr22:29089889-29089890	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs377590647	chr22:29089976-29089977	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs564605612	chr22:29090030-29090031	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs548850521	chr22:29090031-29090032	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs142763740	chr22:29090054-29090055	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs370968992	chr22:29090058-29090059	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs121908706	chr22:29090060-29090061	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs540635787	chr22:29090061-29090062	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs17881378	chr22:29090074-29090075	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs529571124	chr22:29090090-29090091	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs550845289	chr22:29090113-29090114	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs569147323	chr22:29090128-29090129	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs368247319	chr22:29090139-29090140	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs533353088	chr22:29090198-29090199	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551643825	chr22:29090243-29090244	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28502190	chr22:29090286-29090287	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566578179	chr22:29090351-29090352	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs5762747	chr22:29090363-29090364	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183366866	chr22:29090381-29090382	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188063177	chr22:29090386-29090387	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530696174	chr22:29090438-29090439	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538185147	chr22:29090465-29090466	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6005837	chr22:29090481-29090482	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192875611	chr22:29090511-29090512	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577962788	chr22:29090526-29090527	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538835013	chr22:29090583-29090584	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553648591	chr22:29090595-29090596	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12165489	chr22:29090768-29090769	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540347338	chr22:29090823-29090824	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561779961	chr22:29090837-29090838	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs5762748	chr22:29090890-29090891	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185406239	chr22:29090943-29090944	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17884437	chr22:29090961-29090962	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147488236	chr22:29090972-29090973	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17886236	chr22:29090975-29090976	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555987511	chr22:29090994-29090995	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs5762749	chr22:29091037-29091038	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372144722	chr22:29091045-29091046	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527418829	chr22:29091089-29091090	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139088611	chr22:29091138-29091139	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548796284	chr22:29091139-29091140	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17886163	chr22:29091147-29091148	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs17881473	chr22:29091151-29091152	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17880867	chr22:29091152-29091153	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs121908705	chr22:29091154-29091155	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200050883	chr22:29091178-29091179	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17882922	chr22:29091184-29091185	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
Breast cancer	20616022	CNVD
Breast cancer	21486468	CNVD
Ovarian cancer	21486468	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29076200-29103000	Weak transcription	GM12878-XiMat	blood
2	chr22:29076200-29137600	Weak transcription	Esophagus	oesophagus
3	chr22:29076400-29092800	Weak transcription	Primary B cells from cord blood	blood
4	chr22:29076400-29098000	Weak transcription	Ovary	ovary
5	chr22:29076400-29099400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:29076400-29102000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:29076400-29103000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr22:29076400-29105000	Weak transcription	HUVEC	blood vessel
9	chr22:29076400-29105200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr22:29076400-29105800	Weak transcription	NHLF	lung
11	chr22:29076400-29119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:29076400-29129400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr22:29076600-29094400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr22:29076600-29102200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:29077200-29105000	Weak transcription	Osteobl	bone
16	chr22:29077400-29102000	Weak transcription	Fetal Intestine Large	intestine
17	chr22:29077400-29106000	Weak transcription	A549	lung
18	chr22:29077600-29099000	Weak transcription	Hela-S3	cervix
19	chr22:29077600-29102800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr22:29079600-29130200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:29080600-29092000	Weak transcription	NHEK	skin
22	chr22:29082200-29109800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr22:29082600-29092200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr22:29082800-29092000	Weak transcription	HepG2	liver
25	chr22:29082800-29106000	Weak transcription	Liver	Liver
26	chr22:29082800-29137600	Weak transcription	Spleen	Spleen
27	chr22:29083000-29126600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr22:29083600-29094200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:29083600-29094800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:29083600-29104000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr22:29084200-29099000	Weak transcription	Fetal Thymus	thymus
32	chr22:29084600-29097800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr22:29085000-29116600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr22:29085800-29102200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:29085800-29105000	Weak transcription	HMEC	breast
36	chr22:29086000-29090200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:29086200-29106600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr22:29086400-29106000	Weak transcription	HSMM	muscle
39	chr22:29086600-29096000	Weak transcription	Primary T cells from cord blood	blood
40	chr22:29087000-29096000	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr22:29087200-29093200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr22:29087800-29091200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr22:29087800-29094000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr22:29087800-29106200	Weak transcription	Fetal Lung	lung
45	chr22:29088000-29090000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr22:29088400-29093400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr22:29088600-29090400	Strong transcription	Fetal Stomach	stomach
48	chr22:29088600-29091600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:29088600-29092000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr22:29088600-29118600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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