Variant report

Variant	esv3447996
Chromosome Location	chr22:33253056-33253351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32750950-32761732..22:33253287-33262063	Hela-S3	cervix:
2	chr22:33252312..33253945-chr22:33277118..33278817,2	K562	blood:
3	22:32915608-32918105..22:33247041-33253287	K562	blood:
4	22:32920308-32927723..22:33247041-33253287	GM12878	blood:
5	22:31961151-31976153..22:33253287-33262063	K562	blood:
6	22:32544939-32549151..22:33253287-33262063	Hela-S3	cervix:
7	22:33247041-33253287..22:33262063-33266567	GM12878	blood:
8	22:32860159-32865649..22:33247041-33253287	Hela-S3	cervix:
9	22:32868055-32872511..22:33253287-33262063	Hela-S3	cervix:
10	22:32750950-32761732..22:33247041-33253287	Hela-S3	cervix:
11	22:32920308-32927723..22:33253287-33262063	Hela-S3	cervix:
12	22:31836635-31847259..22:33247041-33253287	GM12878	blood:
13	22:32012966-32043914..22:33247041-33253287	K562	blood:
14	22:32764253-32784733..22:33247041-33253287	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100225	chromatin interactions
ENSG00000230736	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000241954	chromatin interactions
ENSG00000184459	chromatin interactions
ENSG00000205853	chromatin interactions
ENSG00000185666	chromatin interactions
ENSG00000232218	chromatin interactions
ENSG00000243519	chromatin interactions
ENSG00000128276	chromatin interactions
ENSG00000205856	chromatin interactions
ENSG00000198089	chromatin interactions
ENSG00000271093	chromatin interactions
ENSG00000241878	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144289242	chr22:33253071-33253072	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs148733511	chr22:33253082-33253083	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs571455824	chr22:33253090-33253091	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs193292719	chr22:33253092-33253093	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs555150911	chr22:33253104-33253105	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs373795734	chr22:33253135-33253136	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs367813929	chr22:33253147-33253148	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs56015565	chr22:33253156-33253157	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs374251890	chr22:33253185-33253186	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs147522917	chr22:33253186-33253187	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs370901487	chr22:33253211-33253212	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs369365946	chr22:33253214-33253215	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs542900432	chr22:33253220-33253221	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs556234766	chr22:33253274-33253275	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs9862	chr22:33253280-33253281	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs200951946	chr22:33253283-33253284	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs373801773	chr22:33253286-33253287	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs11547635	chr22:33253292-33253293	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs201819465	chr22:33253320-33253321	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs201713879	chr22:33253337-33253338	Weak transcription Strong transcription Genic enhancers	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
Carotid artery disease	17901377	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33222600-33258800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr22:33227000-33272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:33227800-33253200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr22:33236200-33253800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:33236200-33259000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:33237400-33282200	Weak transcription	Fetal Brain Female	brain
7	chr22:33238400-33259200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:33241600-33257800	Strong transcription	HepG2	liver
9	chr22:33241600-33258400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:33243400-33257600	Weak transcription	Fetal Brain Male	brain
11	chr22:33243400-33260200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr22:33243600-33254000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr22:33243800-33255800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr22:33244200-33262000	Weak transcription	Brain Germinal Matrix	brain
15	chr22:33244400-33253600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:33244800-33257800	Strong transcription	NH-A	brain
17	chr22:33245000-33258800	Weak transcription	Pancreas	Pancrea
18	chr22:33245400-33258800	Strong transcription	HSMM	muscle
19	chr22:33245600-33265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr22:33245800-33264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:33246200-33253200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr22:33247000-33258400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:33247400-33254000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:33247400-33257600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr22:33247800-33260200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr22:33248000-33258400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr22:33248200-33254200	Weak transcription	Colonic Mucosa	Colon
28	chr22:33248600-33257400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr22:33248800-33254200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr22:33248800-33255800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr22:33249000-33253800	Weak transcription	Gastric	stomach
32	chr22:33249200-33253200	Weak transcription	Liver	Liver
33	chr22:33249200-33253400	Weak transcription	Brain Hippocampus Middle	brain
34	chr22:33249200-33254000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr22:33249400-33253200	Weak transcription	Aorta	Aorta
36	chr22:33249400-33253400	Weak transcription	Ovary	ovary
37	chr22:33249400-33254400	Weak transcription	Fetal Thymus	thymus
38	chr22:33249400-33257800	Weak transcription	Small Intestine	intestine
39	chr22:33249400-33258600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr22:33249600-33253200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr22:33249600-33259000	Strong transcription	Fetal Stomach	stomach
42	chr22:33249800-33253600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr22:33249800-33253800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr22:33249800-33258200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:33249800-33258800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr22:33249800-33262800	Weak transcription	Brain Angular Gyrus	brain
47	chr22:33250000-33254000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:33250200-33253200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr22:33250200-33257400	Genic enhancers	Right Ventricle	heart
50	chr22:33250400-33258800	Strong transcription	Osteobl	bone

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