Variant report

Variant	esv3345613
Chromosome Location	chr22:33372300-33372784
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	22:32920308-32927723..22:33368625-33375969	H1-hESC	embryonic stem cell:	embryo
2	22:32292186-32294405..22:33368625-33375969	K562	blood:
3	22:32053085-32061138..22:33368625-33375969	Hela-S3	cervix:
4	22:32594665-32606395..22:33368625-33375969	K562	blood:
5	22:32868055-32872511..22:33368625-33375969	K562	blood:

Variant related genes	Relation type
ENSG00000242082	chromatin interactions
ENSG00000128253	chromatin interactions
ENSG00000254127	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000100150	chromatin interactions
ENSG00000185666	chromatin interactions
ENSG00000100225	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144618358	chr22:33372342-33372343	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs138519301	chr22:33372377-33372378	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs71313148	chr22:33372409-33372410	Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs201684492	chr22:33372430-33372431	Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs73162031	chr22:33372466-33372467	Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190530272	chr22:33372504-33372505	Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs571404518	chr22:33372529-33372530	Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs150737406	chr22:33372535-33372536	Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs547133364	chr22:33372537-33372538	Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs550930643	chr22:33372539-33372540	Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs575773977	chr22:33372547-33372548	Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs564396577	chr22:33372565-33372566	Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs536413905	chr22:33372590-33372591	Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs181794750	chr22:33372655-33372656	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs541908643	chr22:33372682-33372683	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs569994363	chr22:33372724-33372725	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs75470047	chr22:33372756-33372757	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33314000-33380800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33343200-33372600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:33348000-33382400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:33354000-33374000	Weak transcription	Brain Angular Gyrus	brain
5	chr22:33354400-33381800	Weak transcription	Fetal Brain Male	brain
6	chr22:33354600-33387400	Weak transcription	Fetal Brain Female	brain
7	chr22:33361000-33380400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:33365800-33373800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr22:33368800-33381800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr22:33369000-33376800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr22:33370400-33373400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr22:33371400-33375400	Weak transcription	HepG2	liver
13	chr22:33372000-33372400	Genic enhancers	H9 Cell Line	embryonic stem cell
14	chr22:33372000-33376400	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr22:33372000-33376800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:33372200-33372400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr22:33372200-33374400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr22:33372400-33373000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr22:33372400-33373200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:33372400-33374000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr22:33372600-33373000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr22:33372600-33373200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:33372600-33373200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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