Variant report

Variant	esv3456082
Chromosome Location	chr22:31819368-31820597
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	MAFK	chr22:31819089-31819393	HepG2	liver:	n/a	chr22:31819230-31819241 chr22:31819230-31819245 chr22:31819231-31819251 chr22:31819230-31819246
2	POLR2A	chr22:31819184-31819504	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	22:31807204-31822350..22:31836635-31847259	K562	blood:
2	22:31807204-31822350..22:32292186-32294405	K562	blood:
3	22:31807204-31822350..22:32012966-32043914	K562	blood:
4	22:31807204-31822350..22:31978142-31983723	GM12878	blood:

Variant related genes	Relation type
DRG1	TF binding region
ENSG00000241878	chromatin interactions
ENSG00000198089	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000100150	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373827710	chr22:31819438-31819439	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs561143450	chr22:31819439-31819440	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs561446306	chr22:31819509-31819510	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs530259206	chr22:31819583-31819584	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs548654841	chr22:31819586-31819587	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs568628633	chr22:31819598-31819599	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs537418410	chr22:31819601-31819602	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs551362407	chr22:31819637-31819638	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs571407968	chr22:31819659-31819660	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs143404863	chr22:31819660-31819661	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs181972672	chr22:31819719-31819720	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs184279642	chr22:31819730-31819731	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs5753610	chr22:31819755-31819756	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs142452574	chr22:31819849-31819850	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs76745115	chr22:31819850-31819851	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs74964992	chr22:31819866-31819867	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs530849160	chr22:31819867-31819868	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs148199049	chr22:31819880-31819881	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs539289444	chr22:31819900-31819901	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs9621255	chr22:31819928-31819929	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs112700163	chr22:31819929-31819930	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs189089825	chr22:31819952-31819953	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs572397013	chr22:31820007-31820008	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs192912500	chr22:31820079-31820080	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs555882824	chr22:31820082-31820083	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs185587003	chr22:31820083-31820084	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs558526076	chr22:31820093-31820094	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs9985186	chr22:31820139-31820140	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181271591	chr22:31820141-31820142	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs549986553	chr22:31820169-31820170	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs562200894	chr22:31820191-31820192	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs139121555	chr22:31820204-31820205	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs551225005	chr22:31820218-31820219	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs5994395	chr22:31820245-31820246	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs113557057	chr22:31820296-31820297	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs533579414	chr22:31820301-31820302	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs547697387	chr22:31820397-31820398	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs111524601	chr22:31820429-31820430	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs186317201	chr22:31820434-31820435	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs374563621	chr22:31820440-31820441	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs539929606	chr22:31820475-31820476	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs398036881	chr22:31820499-31820500	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs13056742	chr22:31820501-31820502	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs191222692	chr22:31820528-31820529	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs539120252	chr22:31820546-31820547	Weak transcription Strong transcription	Chromatin interactive region	4 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
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31796600-31821200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:31796600-31830000	Weak transcription	Stomach Mucosa	stomach
3	chr22:31796800-31822400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr22:31796800-31835600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:31797000-31832000	Strong transcription	Fetal Muscle Leg	muscle
6	chr22:31797000-31836600	Strong transcription	Placenta	Placenta
7	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:31797200-31826800	Strong transcription	Liver	Liver
10	chr22:31797200-31832600	Strong transcription	Fetal Intestine Small	intestine
11	chr22:31797200-31845400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr22:31797200-31846200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr22:31797200-31846400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr22:31797200-31860600	Strong transcription	Fetal Stomach	stomach
15	chr22:31797400-31821200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr22:31797400-31846800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr22:31797600-31828000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:31797600-31835800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr22:31797800-31821600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr22:31797800-31832200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:31797800-31844800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:31797800-31846800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr22:31798000-31831800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr22:31798200-31827000	Strong transcription	Stomach Smooth Muscle	stomach
25	chr22:31798200-31831200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr22:31798600-31821000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:31799000-31845400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr22:31799200-31846600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:31800200-31821000	Weak transcription	Fetal Brain Male	brain
30	chr22:31803400-31822000	Weak transcription	Fetal Heart	heart
31	chr22:31803600-31844600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr22:31804600-31847000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr22:31805000-31844800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr22:31805600-31844800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr22:31806800-31842400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr22:31807800-31821400	Weak transcription	Right Ventricle	heart
37	chr22:31807800-31822200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr22:31812000-31842000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr22:31812200-31821200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr22:31812400-31821000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr22:31812400-31821000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr22:31812600-31821400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:31813600-31845000	Strong transcription	Fetal Thymus	thymus
44	chr22:31813800-31824200	Strong transcription	Spleen	Spleen
45	chr22:31814000-31819600	Strong transcription	Primary T cells from cord blood	blood
46	chr22:31814000-31838000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr22:31814000-31841200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr22:31814000-31846400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr22:31814200-31846800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr22:31814400-31832000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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