Variant report

Variant	esv3432484
Chromosome Location	chr22:31971954-31972360
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31970602..31972211-chr22:32029166..32030723,2	K562	blood:
2	chr22:31970328..31972082-chr22:32024479..32026454,2	K562	blood:
3	22:31961151-31976153..22:32284948-32287956	K562	blood:
4	22:31961151-31976153..22:33253287-33262063	K562	blood:
5	22:31961151-31976153..22:33030812-33041554	K562	blood:
6	chr22:31971863..31974758-chr22:32025154..32029039,5	MCF-7	breast:
7	chr22:31969040..31971908-chr22:31972285..31974264,2	MCF-7	breast:
8	22:31961151-31976153..22:32513817-32522138	K562	blood:
9	chr22:31971494..31974230-chr22:31978684..31980749,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000241878	chromatin interactions
ENSG00000251890	chromatin interactions
ENSG00000227813	chromatin interactions
ENSG00000234479	chromatin interactions
ENSG00000198089	chromatin interactions
ENSG00000183531	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186421465	chr22:31972001-31972002	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs543573453	chr22:31972014-31972015	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs531613546	chr22:31972018-31972019	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs34592231	chr22:31972058-31972059	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs189221826	chr22:31972070-31972071	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs77067323	chr22:31972075-31972076	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs10154415	chr22:31972089-31972090	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143216998	chr22:31972099-31972100	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs77671876	chr22:31972102-31972103	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs536384017	chr22:31972151-31972152	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs181669448	chr22:31972167-31972168	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs569689185	chr22:31972190-31972191	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs143109413	chr22:31972201-31972202	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs186666196	chr22:31972207-31972208	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs147073664	chr22:31972208-31972209	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs541260157	chr22:31972222-31972223	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs191051183	chr22:31972288-31972289	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs573763209	chr22:31972300-31972301	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs62237790	chr22:31972301-31972302	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562592093	chr22:31972333-31972334	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs575909038	chr22:31972338-31972339	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Breast cancer	17142309	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31927400-31979400	Weak transcription	NHDF-Ad	bronchial
2	chr22:31927400-31980000	Weak transcription	HSMMtube	muscle
3	chr22:31927600-31974200	Weak transcription	Small Intestine	intestine
4	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
5	chr22:31933600-31979600	Weak transcription	HUVEC	blood vessel
6	chr22:31934000-31981000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:31941400-31981400	Weak transcription	NHEK	skin
10	chr22:31947400-31972800	Weak transcription	Esophagus	oesophagus
11	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr22:31948000-31973400	Weak transcription	Liver	Liver
13	chr22:31948200-31980000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr22:31949200-31973400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr22:31949200-31981600	Weak transcription	Left Ventricle	heart
16	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
17	chr22:31949600-31977800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr22:31949800-31976400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr22:31954400-31980000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr22:31956200-31973400	Weak transcription	HSMM	muscle
21	chr22:31957200-31977800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr22:31957400-31974200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr22:31957600-31973400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr22:31957800-31975800	Weak transcription	Stomach Mucosa	stomach
26	chr22:31957800-31975800	Weak transcription	A549	lung
27	chr22:31957800-31979600	Weak transcription	K562	blood
28	chr22:31958000-31975800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr22:31958000-31983000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:31962600-31973000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr22:31963200-31976400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:31964400-31979800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr22:31964600-31993600	Weak transcription	Psoas Muscle	Psoas
34	chr22:31965000-31977600	Strong transcription	Primary T cells from cord blood	blood
35	chr22:31965200-31977200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr22:31965200-31977400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr22:31965200-31977600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr22:31965600-31976400	Strong transcription	Fetal Stomach	stomach
39	chr22:31965800-31976600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr22:31966200-31976400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr22:31966400-31976800	Strong transcription	Thymus	Thymus
42	chr22:31966600-31974600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr22:31967000-31977200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr22:31967000-31977600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr22:31967000-31985400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr22:31967200-31981000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr22:31967800-31975000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr22:31967800-31977200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr22:31968000-31973400	Weak transcription	Right Ventricle	heart
50	chr22:31968000-31974600	Strong transcription	Stomach Smooth Muscle	stomach

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