Variant report

Variant	esv2500485
Chromosome Location	chr22:31291011-31294491
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	POLR2A	chr22:31293388-31293435	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:31291033-31291214	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31292508..31294976-chr22:31363600..31365719,2	K562	blood:
2	chr22:31291971..31294342-chr22:31302855..31304396,2	K562	blood:
3	chr22:31286283..31288352-chr22:31290397..31292168,2	K562	blood:

Variant related genes	Relation type
EIF4HP2	TF binding region
ENSG00000133422	chromatin interactions
ENSG00000184792	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529419478	chr22:31291046-31291047	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs16989184	chr22:31291078-31291079	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533830389	chr22:31291116-31291117	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563078319	chr22:31291161-31291162	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532025770	chr22:31291190-31291191	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34802356	chr22:31291199-31291200	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs191414090	chr22:31291235-31291236	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143409901	chr22:31291243-31291244	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs202051917	chr22:31291246-31291247	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570428429	chr22:31291260-31291261	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs62238092	chr22:31291272-31291273	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533069150	chr22:31291336-31291337	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551071562	chr22:31291369-31291370	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564826772	chr22:31291382-31291383	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566562398	chr22:31291411-31291412	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111903506	chr22:31291463-31291464	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373816219	chr22:31291520-31291521	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs67147751	chr22:31291524-31291525	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376396769	chr22:31291528-31291529	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs74429945	chr22:31291531-31291532	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75013578	chr22:31291532-31291533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs75993487	chr22:31291534-31291535	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs74354619	chr22:31291535-31291536	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs75813927	chr22:31291536-31291537	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs80165422	chr22:31291538-31291539	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370053922	chr22:31291539-31291540	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs5753376	chr22:31291546-31291547	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372202047	chr22:31291592-31291593	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563048568	chr22:31291594-31291595	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532061220	chr22:31291595-31291596	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545677178	chr22:31291597-31291598	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564074516	chr22:31291602-31291603	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532836103	chr22:31291622-31291623	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs546569465	chr22:31291623-31291624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs5749188	chr22:31291812-31291813	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142966202	chr22:31291879-31291880	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201864907	chr22:31291904-31291905	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs5749189	chr22:31291905-31291906	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs548924924	chr22:31291917-31291918	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546584053	chr22:31291955-31291956	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568675272	chr22:31292017-31292018	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144364179	chr22:31292046-31292047	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557581842	chr22:31292110-31292111	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571204387	chr22:31292147-31292148	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148802384	chr22:31292195-31292196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs8136804	chr22:31292217-31292218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs8136929	chr22:31292219-31292220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554121074	chr22:31292222-31292223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62238093	chr22:31292249-31292250	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543073573	chr22:31292255-31292256	Weak transcription Strong transcription	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
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	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20858604	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31265200-31299400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:31266400-31295200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr22:31277800-31295200	Weak transcription	Fetal Brain Male	brain
5	chr22:31278400-31291800	Weak transcription	HMEC	breast
6	chr22:31278400-31292600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr22:31278400-31301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:31278800-31295000	Weak transcription	Small Intestine	intestine
10	chr22:31278800-31301600	Weak transcription	A549	lung
11	chr22:31282200-31294400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr22:31282800-31294200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart
14	chr22:31283400-31291200	Strong transcription	Brain Cingulate Gyrus	brain
15	chr22:31283400-31291200	Strong transcription	Brain Hippocampus Middle	brain
16	chr22:31283400-31291400	Strong transcription	Brain Germinal Matrix	brain
17	chr22:31283400-31291400	Strong transcription	Fetal Brain Female	brain
18	chr22:31283400-31291600	Strong transcription	Brain Anterior Caudate	brain
19	chr22:31283400-31304000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr22:31283600-31291200	Strong transcription	Brain Substantia Nigra	brain
21	chr22:31283600-31292800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr22:31283600-31318400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr22:31284200-31291800	Strong transcription	NHEK	skin
24	chr22:31284400-31308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:31284600-31293000	Strong transcription	Fetal Lung	lung
26	chr22:31284600-31295200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr22:31284800-31306600	Weak transcription	Colonic Mucosa	Colon
28	chr22:31285200-31291200	Strong transcription	Brain Angular Gyrus	brain
29	chr22:31285200-31295000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr22:31286200-31294000	Weak transcription	HepG2	liver
31	chr22:31286200-31294200	Weak transcription	Aorta	Aorta
32	chr22:31286400-31294400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:31286400-31299200	Weak transcription	Liver	Liver
34	chr22:31286400-31304000	Weak transcription	Ovary	ovary
35	chr22:31286800-31291200	Weak transcription	Adipose Nuclei	Adipose
36	chr22:31287200-31291600	Strong transcription	Fetal Intestine Large	intestine
37	chr22:31287200-31294200	Strong transcription	Fetal Intestine Small	intestine
38	chr22:31287200-31299200	Weak transcription	Esophagus	oesophagus
39	chr22:31287400-31300400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr22:31287800-31295000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:31288200-31291200	Strong transcription	K562	blood
42	chr22:31288200-31291400	Strong transcription	Placenta	Placenta
43	chr22:31288400-31316400	Weak transcription	Thymus	Thymus
44	chr22:31288600-31291400	Strong transcription	HSMMtube	muscle
45	chr22:31288600-31293800	Strong transcription	Hela-S3	cervix
46	chr22:31289000-31291200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr22:31289000-31291400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr22:31289200-31291200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr22:31289200-31291400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr22:31289200-31291400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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