Variant report

Variant	esv3331456
Chromosome Location	chr22:32381452-32383400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32360288-32405313..22:32764253-32784733	K562	blood:
2	22:32360288-32405313..22:32750950-32761732	K562	blood:
3	22:32360288-32405313..22:33452523-33459358	H1-hESC	embryonic stem cell:	embryo
4	22:32360288-32405313..22:32860159-32865649	K562	blood:
5	22:32360288-32405313..22:32868055-32872511	K562	blood:
6	22:32012966-32043914..22:32360288-32405313	K562	blood:
7	22:32360288-32405313..22:32740683-32750950	K562	blood:

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

Extended variants
information (count: 70 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529566422	chr22:32381535-32381536	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs7510966	chr22:32381538-32381539	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs35444827	chr22:32381539-32381540	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs577429363	chr22:32381622-32381623	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs140337067	chr22:32381692-32381693	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs193073049	chr22:32381713-32381714	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs550432990	chr22:32381714-32381715	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs117256264	chr22:32381750-32381751	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs183740522	chr22:32381815-32381816	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs145409490	chr22:32381889-32381890	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs541952526	chr22:32381950-32381951	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs41430344	chr22:32381973-32381974	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188265791	chr22:32381994-32381995	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs191794902	chr22:32382032-32382033	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs77017871	chr22:32382145-32382146	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs5753842	chr22:32382185-32382186	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs73406081	chr22:32382200-32382201	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs371469707	chr22:32382217-32382218	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs8138920	chr22:32382218-32382219	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs9609401	chr22:32382221-32382222	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs374894414	chr22:32382222-32382223	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs201856465	chr22:32382241-32382242	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs28584772	chr22:32382243-32382244	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs375340231	chr22:32382245-32382246	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs10677923	chr22:32382246-32382247	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs9609402	chr22:32382259-32382260	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs117432936	chr22:32382309-32382310	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs529499218	chr22:32382320-32382321	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs369017455	chr22:32382321-32382322	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs543316553	chr22:32382379-32382380	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs540424361	chr22:32382402-32382403	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs200450222	chr22:32382415-32382416	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs533589716	chr22:32382418-32382419	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs78961346	chr22:32382433-32382434	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs531847083	chr22:32382448-32382449	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs35050104	chr22:32382585-32382586	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs551944628	chr22:32382604-32382605	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs201546283	chr22:32382607-32382608	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs370662769	chr22:32382619-32382620	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs564075170	chr22:32382654-32382655	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs564370218	chr22:32382664-32382665	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs188651122	chr22:32382665-32382666	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs369865405	chr22:32382668-32382669	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs546201202	chr22:32382713-32382714	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs566100643	chr22:32382715-32382716	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs535059258	chr22:32382729-32382730	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs548899081	chr22:32382797-32382798	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs9609403	chr22:32382802-32382803	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs569121859	chr22:32382816-32382817	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs537696094	chr22:32382853-32382854	Weak transcription Enhancers	Chromatin interactive region	11 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	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32379200-32384200	Enhancers	Fetal Intestine Large	intestine
2	chr22:32380400-32383000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr22:32381400-32382000	Weak transcription	Fetal Intestine Small	intestine
4	chr22:32382000-32387600	Enhancers	Fetal Intestine Small	intestine
5	chr22:32383000-32383600	Enhancers	Duodenum Mucosa	Duodenum
6	chr22:32383000-32384000	Enhancers	Small Intestine	intestine
7	chr22:32383200-32383600	Enhancers	Pancreas	Pancrea

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