Variant report

Variant	esv15792
Chromosome Location	chr22:29633118-29635222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29633274..29634988-chr22:29655827..29657402,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237015	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183790925	chr22:29633153-29633154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12158292	chr22:29633234-29633235	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553336962	chr22:29633342-29633343	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575720728	chr22:29633367-29633368	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs55735106	chr22:29633449-29633450	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539885000	chr22:29633465-29633466	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558182789	chr22:29633517-29633518	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs8137876	chr22:29633564-29633565	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573286481	chr22:29633603-29633604	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540707393	chr22:29633604-29633605	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572647681	chr22:29633631-29633632	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369871411	chr22:29633651-29633652	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374102501	chr22:29633662-29633663	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561750191	chr22:29633714-29633715	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573753686	chr22:29633744-29633745	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs544105386	chr22:29633745-29633746	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377367271	chr22:29633777-29633778	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570638620	chr22:29633785-29633786	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs71196642	chr22:29633789-29633790	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
20	rs5752882	chr22:29633826-29633827	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191754387	chr22:29633849-29633850	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs150092333	chr22:29633896-29633897	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183457680	chr22:29633934-29633935	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs62227043	chr22:29633935-29633936	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs574711860	chr22:29634051-29634052	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555427313	chr22:29634090-29634091	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186681862	chr22:29634135-29634136	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191429911	chr22:29634143-29634144	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561309706	chr22:29634186-29634187	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs531815390	chr22:29634244-29634245	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549835370	chr22:29634245-29634246	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs71196643	chr22:29634284-29634285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs78131832	chr22:29634290-29634291	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs3066719	chr22:29634292-29634293	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs551189472	chr22:29634324-29634325	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs116362089	chr22:29634351-29634352	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185532571	chr22:29634385-29634386	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs5763080	chr22:29634413-29634414	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190744738	chr22:29634445-29634446	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs5752883	chr22:29634502-29634503	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181675847	chr22:29634526-29634527	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs183392013	chr22:29634544-29634545	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573762504	chr22:29634567-29634568	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577850752	chr22:29634610-29634611	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs544041337	chr22:29634650-29634651	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545983839	chr22:29634655-29634656	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs555936330	chr22:29634669-29634670	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562879515	chr22:29634696-29634697	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs71322633	chr22:29634704-29634705	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149624885	chr22:29634709-29634710	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	22522925	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29622000-29655200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr22:29622000-29655800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:29622400-29656600	Weak transcription	Colonic Mucosa	Colon
4	chr22:29622600-29641400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:29628400-29641200	Weak transcription	Fetal Brain Male	brain
6	chr22:29629000-29635000	Weak transcription	Fetal Kidney	kidney
7	chr22:29629000-29659400	Weak transcription	Brain Anterior Caudate	brain
8	chr22:29629600-29655400	Weak transcription	Liver	Liver
9	chr22:29629600-29655400	Weak transcription	Gastric	stomach
10	chr22:29630200-29639400	Weak transcription	Ovary	ovary
11	chr22:29630200-29641400	Weak transcription	Pancreas	Pancrea
12	chr22:29630400-29635800	Weak transcription	Fetal Stomach	stomach
13	chr22:29630400-29636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:29630600-29633800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr22:29630600-29634800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr22:29630600-29634800	Weak transcription	Dnd41	blood
17	chr22:29630600-29635400	Weak transcription	Brain Germinal Matrix	brain
18	chr22:29630600-29635400	Weak transcription	Fetal Brain Female	brain
19	chr22:29630600-29639400	Weak transcription	Spleen	Spleen
20	chr22:29630800-29635000	Weak transcription	Fetal Lung	lung
21	chr22:29631000-29635200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:29631400-29636800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:29632000-29635400	Strong transcription	Fetal Intestine Small	intestine
24	chr22:29632600-29634600	Weak transcription	Fetal Intestine Large	intestine
25	chr22:29633400-29636600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:29633600-29654400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr22:29633800-29635400	Strong transcription	Primary hematopoietic stem cells	blood
28	chr22:29634600-29634800	ZNF genes & repeats	Fetal Intestine Large	intestine
29	chr22:29634600-29655200	Weak transcription	Brain Angular Gyrus	brain
30	chr22:29634800-29635000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr22:29634800-29636000	ZNF genes & repeats	Dnd41	blood
32	chr22:29634800-29639800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr22:29634800-29640400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:29634800-29641200	Strong transcription	Fetal Intestine Large	intestine
35	chr22:29635000-29635600	Strong transcription	Fetal Kidney	kidney
36	chr22:29635000-29635800	ZNF genes & repeats	Fetal Lung	lung
37	chr22:29635200-29635800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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