Variant report

Variant	esv2493801
Chromosome Location	chr22:32036635-32039157
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	CEBPB	chr22:32039064-32039336	H1-hESC	embryonic stem cell:	n/a	chr22:32039154-32039165
2	CEBPB	chr22:32038985-32039345	IMR90	lung:	n/a	chr22:32039154-32039165
3	CEBPB	chr22:32039021-32039347	Hela-S3	cervix:	n/a	chr22:32039154-32039165
4	CEBPB	chr22:32039000-32039343	K562	blood:	n/a	chr22:32039154-32039165
5	CEBPB	chr22:32039010-32039329	HepG2	liver:	n/a	chr22:32039154-32039165
6	CEBPB	chr22:32039082-32039333	ECC-1	luminal epithelium:	n/a	chr22:32039154-32039165
7	CEBPB	chr22:32039063-32039286	K562	blood:	n/a	chr22:32039154-32039165
8	CEBPB	chr22:32039058-32039433	A549	lung:	n/a	chr22:32039154-32039165
9	CEBPB	chr22:32038998-32039340	A549	lung:	n/a	chr22:32039154-32039165
10	CEBPB	chr22:32039064-32039357	A549	lung:	n/a	chr22:32039154-32039165
11	JUN	chr22:32039014-32039390	HUVEC	blood vessel:	n/a	n/a
12	MAX	chr22:32039144-32039183	NB4	blood:	n/a	chr22:32039167-32039177
13	MYC	chr22:32039109-32039281	HUVEC	blood vessel:	n/a	chr22:32039167-32039177
14	PAX5	chr22:32036678-32036840	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	22:32012966-32043914..22:32347255-32351014	K562	blood:
2	22:32012966-32043914..22:32360288-32405313	K562	blood:
3	22:32012966-32043914..22:32846948-32860159	K562	blood:
4	22:32012966-32043914..22:32529813-32538538	K562	blood:
5	chr22:32025560..32029884-chr22:32035020..32038724,4	MCF-7	breast:
6	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
7	22:31936958-31958600..22:32012966-32043914	GM12878	blood:
8	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
9	22:32012966-32043914..22:32513817-32522138	K562	blood:
10	chr22:32037396..32038993-chr22:32043702..32046288,2	K562	blood:
11	22:32012966-32043914..22:32665993-32670527	K562	blood:

Variant related genes	Relation type
PISD	TF binding region
ENSG00000234479	chromatin interactions
ENSG00000239674	chromatin interactions
ENSG00000229169	chromatin interactions
ENSG00000230866	chromatin interactions
ENSG00000214093	chromatin interactions
ENSG00000232707	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000240647	chromatin interactions
ENSG00000238910	chromatin interactions
ENSG00000184459	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000224050	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12158131	chr22:32036651-32036652	Weak transcription Enhancers Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs8138471	chr22:32036674-32036675	Weak transcription Enhancers Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs377532341	chr22:32036691-32036692	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
4	rs34399834	chr22:32036692-32036693	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs79084989	chr22:32036700-32036701	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs368321794	chr22:32036715-32036716	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs189206001	chr22:32036724-32036725	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs556911483	chr22:32036729-32036730	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs536230287	chr22:32036755-32036756	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs144785400	chr22:32036818-32036819	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs58251593	chr22:32036890-32036891	Weak transcription Enhancers Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs12162806	chr22:32036935-32036936	Weak transcription Enhancers Strong transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs60746452	chr22:32036943-32036944	Weak transcription Enhancers Strong transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573486929	chr22:32037035-32037036	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs181528227	chr22:32037061-32037062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs56337539	chr22:32037143-32037144	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs62237855	chr22:32037152-32037153	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs556128988	chr22:32037207-32037208	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs543570693	chr22:32037212-32037213	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs113432798	chr22:32037224-32037225	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs60526650	chr22:32037228-32037229	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs141044708	chr22:32037266-32037267	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs559343248	chr22:32037270-32037271	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs551063986	chr22:32037283-32037284	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs113922453	chr22:32037371-32037372	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs191263201	chr22:32037527-32037528	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs2009893	chr22:32037530-32037531	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567939653	chr22:32037571-32037572	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs151145448	chr22:32037576-32037577	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs386820686	chr22:32037591-32037592	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs182591683	chr22:32037592-32037593	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs372786659	chr22:32037608-32037609	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs376079069	chr22:32037611-32037612	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs186278706	chr22:32037612-32037613	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs369522525	chr22:32037618-32037619	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs386820687	chr22:32037622-32037623	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs550624527	chr22:32037623-32037624	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs370345061	chr22:32037631-32037632	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs386820688	chr22:32037645-32037646	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs570631170	chr22:32037649-32037650	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs370129069	chr22:32037666-32037667	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs374130703	chr22:32037673-32037674	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs386820689	chr22:32037678-32037679	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs386820690	chr22:32037690-32037691	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs539406795	chr22:32037698-32037699	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs550573902	chr22:32037699-32037700	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs139088204	chr22:32037701-32037702	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs573451488	chr22:32037705-32037706	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs536194218	chr22:32037731-32037732	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs555660296	chr22:32037733-32037734	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32027200-32042400	Weak transcription	A549	lung
2	chr22:32027200-32042600	Weak transcription	Thymus	Thymus
3	chr22:32027200-32043400	Weak transcription	Aorta	Aorta
4	chr22:32027400-32042200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:32027400-32042800	Weak transcription	Fetal Lung	lung
6	chr22:32027600-32037000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:32027600-32040600	Weak transcription	Ovary	ovary
8	chr22:32027600-32042000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:32027600-32042000	Weak transcription	NH-A	brain
10	chr22:32027600-32042200	Weak transcription	Brain Germinal Matrix	brain
11	chr22:32027600-32043200	Weak transcription	HSMMtube	muscle
12	chr22:32027600-32044800	Weak transcription	Small Intestine	intestine
13	chr22:32027800-32037200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:32027800-32037200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:32027800-32038000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:32027800-32039200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr22:32027800-32040600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr22:32027800-32040600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr22:32027800-32040600	Weak transcription	Primary T cells from cord blood	blood
20	chr22:32027800-32040800	Weak transcription	Fetal Brain Female	brain
21	chr22:32027800-32042000	Weak transcription	HSMM	muscle
22	chr22:32027800-32042200	Weak transcription	Fetal Brain Male	brain
23	chr22:32027800-32042200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr22:32027800-32042400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr22:32027800-32042600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:32027800-32042600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr22:32027800-32042800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr22:32027800-32043200	Weak transcription	Colon Smooth Muscle	Colon
29	chr22:32027800-32043800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr22:32028000-32043200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr22:32028200-32039200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr22:32028400-32043200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr22:32030000-32040600	Weak transcription	Dnd41	blood
34	chr22:32031400-32039200	Weak transcription	Hela-S3	cervix
35	chr22:32031800-32040600	Weak transcription	HepG2	liver
36	chr22:32032200-32041800	Weak transcription	HMEC	breast
37	chr22:32032200-32046000	Weak transcription	Pancreas	Pancrea
38	chr22:32032600-32038800	Weak transcription	Liver	Liver
39	chr22:32032600-32039200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr22:32033400-32037200	Enhancers	Primary T cells fromperipheralblood	blood
41	chr22:32033400-32037600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr22:32033400-32042000	Strong transcription	Fetal Intestine Small	intestine
43	chr22:32033800-32037600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr22:32033800-32042800	Weak transcription	Brain Substantia Nigra	brain
45	chr22:32034000-32042000	Weak transcription	K562	blood
46	chr22:32034200-32042600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr22:32034400-32038000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr22:32034400-32040600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr22:32034400-32040800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr22:32034400-32040800	Weak transcription	Brain Hippocampus Middle	brain

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