Variant report

Variant	esv2042529
Chromosome Location	chr22:33295603-33296286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32477762-32487457..22:33288947-33297113	K562	blood:
2	22:32920308-32927723..22:33288947-33297113	Hela-S3	cervix:
3	22:31864703-31891033..22:33288947-33297113	K562	blood:
4	22:32868055-32872511..22:33288947-33297113	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000100225	chromatin interactions
ENSG00000100170	chromatin interactions
ENSG00000199248	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000185666	chromatin interactions
ENSG00000198089	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573575112	chr22:33295605-33295606	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs200754632	chr22:33295613-33295614	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs374378872	chr22:33295634-33295635	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs182386534	chr22:33295649-33295650	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs557700250	chr22:33295659-33295660	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs369657838	chr22:33295666-33295667	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs368523615	chr22:33295712-33295713	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs143173517	chr22:33295713-33295714	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs186084928	chr22:33295735-33295736	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs532207121	chr22:33295744-33295745	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs189369841	chr22:33295773-33295774	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs373805685	chr22:33295775-33295776	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs368798727	chr22:33295776-33295777	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs199889791	chr22:33295851-33295852	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs12170131	chr22:33295995-33295996	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs537733242	chr22:33296039-33296040	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs112547571	chr22:33296059-33296060	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs190756104	chr22:33296099-33296100	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs137524	chr22:33296107-33296108	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs137525	chr22:33296139-33296140	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528387395	chr22:33296176-33296177	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs376557649	chr22:33296253-33296254	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	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	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33277000-33302000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33283600-33299600	Weak transcription	Right Atrium	heart
3	chr22:33287800-33309600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:33287800-33312000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr22:33289000-33297200	Weak transcription	Fetal Heart	heart
6	chr22:33290000-33312000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:33293600-33301400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:33293800-33297400	Weak transcription	K562	blood
9	chr22:33294000-33297800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr22:33294400-33296800	Weak transcription	Fetal Intestine Large	intestine
11	chr22:33294600-33296600	Weak transcription	Fetal Intestine Small	intestine
12	chr22:33294600-33297600	Weak transcription	Placenta	Placenta
13	chr22:33295200-33296400	Enhancers	Primary hematopoietic stem cells	blood
14	chr22:33295200-33296400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:33295400-33296400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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