Variant report

Variant	esv3456085
Chromosome Location	chr22:32037494-32038920
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 75 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191263201	chr22:32037527-32037528	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	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
3	rs567939653	chr22:32037571-32037572	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs151145448	chr22:32037576-32037577	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs386820686	chr22:32037591-32037592	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs182591683	chr22:32037592-32037593	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs372786659	chr22:32037608-32037609	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs376079069	chr22:32037611-32037612	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs186278706	chr22:32037612-32037613	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs369522525	chr22:32037618-32037619	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs386820687	chr22:32037622-32037623	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs550624527	chr22:32037623-32037624	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs370345061	chr22:32037631-32037632	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs386820688	chr22:32037645-32037646	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs570631170	chr22:32037649-32037650	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs370129069	chr22:32037666-32037667	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs374130703	chr22:32037673-32037674	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs386820689	chr22:32037678-32037679	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs386820690	chr22:32037690-32037691	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs539406795	chr22:32037698-32037699	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs550573902	chr22:32037699-32037700	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs139088204	chr22:32037701-32037702	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs573451488	chr22:32037705-32037706	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs536194218	chr22:32037731-32037732	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs555660296	chr22:32037733-32037734	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs575944818	chr22:32037737-32037738	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs544836393	chr22:32037738-32037739	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs563345685	chr22:32037739-32037740	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs577021497	chr22:32037760-32037761	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs545471838	chr22:32037763-32037764	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs149916744	chr22:32037784-32037785	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs528352571	chr22:32037785-32037786	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs548495249	chr22:32037812-32037813	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs35250416	chr22:32037844-32037845	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs79687287	chr22:32037891-32037892	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs141043691	chr22:32037921-32037922	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs144790103	chr22:32037944-32037945	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs570572560	chr22:32038050-32038051	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs533511687	chr22:32038137-32038138	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs190754002	chr22:32038175-32038176	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs566886637	chr22:32038226-32038227	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs34400842	chr22:32038270-32038271	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs9606867	chr22:32038275-32038276	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs535758086	chr22:32038335-32038336	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs556063425	chr22:32038366-32038367	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs569593890	chr22:32038390-32038391	Weak transcription Strong transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs538399915	chr22:32038404-32038405	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs576029987	chr22:32038427-32038428	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs146746700	chr22:32038436-32038437	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs545910626	chr22:32038480-32038481	Weak transcription Strong transcription Enhancers Flanking Active TSS	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:154 , 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	chr22:32027600-32040600	Weak transcription	Ovary	ovary
7	chr22:32027600-32042000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr22:32027600-32042000	Weak transcription	NH-A	brain
9	chr22:32027600-32042200	Weak transcription	Brain Germinal Matrix	brain
10	chr22:32027600-32043200	Weak transcription	HSMMtube	muscle
11	chr22:32027600-32044800	Weak transcription	Small Intestine	intestine
12	chr22:32027800-32038000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:32027800-32039200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr22:32027800-32040600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:32027800-32040600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr22:32027800-32040600	Weak transcription	Primary T cells from cord blood	blood
17	chr22:32027800-32040800	Weak transcription	Fetal Brain Female	brain
18	chr22:32027800-32042000	Weak transcription	HSMM	muscle
19	chr22:32027800-32042200	Weak transcription	Fetal Brain Male	brain
20	chr22:32027800-32042200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr22:32027800-32042400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr22:32027800-32042600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr22:32027800-32042600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:32027800-32042800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr22:32027800-32043200	Weak transcription	Colon Smooth Muscle	Colon
26	chr22:32027800-32043800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:32028000-32043200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr22:32028200-32039200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr22:32028400-32043200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr22:32030000-32040600	Weak transcription	Dnd41	blood
31	chr22:32031400-32039200	Weak transcription	Hela-S3	cervix
32	chr22:32031800-32040600	Weak transcription	HepG2	liver
33	chr22:32032200-32041800	Weak transcription	HMEC	breast
34	chr22:32032200-32046000	Weak transcription	Pancreas	Pancrea
35	chr22:32032600-32038800	Weak transcription	Liver	Liver
36	chr22:32032600-32039200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr22:32033400-32037600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr22:32033400-32042000	Strong transcription	Fetal Intestine Small	intestine
39	chr22:32033800-32037600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr22:32033800-32042800	Weak transcription	Brain Substantia Nigra	brain
41	chr22:32034000-32042000	Weak transcription	K562	blood
42	chr22:32034200-32042600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr22:32034400-32038000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr22:32034400-32040600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr22:32034400-32040800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr22:32034400-32040800	Weak transcription	Brain Hippocampus Middle	brain
47	chr22:32034400-32040800	Weak transcription	Lung	lung
48	chr22:32034400-32041200	Weak transcription	Brain Anterior Caudate	brain
49	chr22:32034400-32042000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr22:32034400-32042200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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