Variant report

Variant	nsv526760
Chromosome Location	chr22:28706220-28719656
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	chr22:28716762..28719627-chr22:28834763..28836583,2	K562	blood:
2	chr22:28698934..28701559-chr22:28705463..28708229,2	K562	blood:

Variant related genes	Relation type
ENSG00000199797	chromatin interactions

Extended variants
information (count: 462 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9613591	chr22:28706220-28706221	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555306898	chr22:28706228-28706229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142298512	chr22:28706282-28706283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553652751	chr22:28706406-28706407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs151246103	chr22:28706480-28706481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540283761	chr22:28706510-28706511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185513211	chr22:28706589-28706590	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551562994	chr22:28706644-28706645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189288614	chr22:28706659-28706660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76193768	chr22:28706787-28706788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs569023571	chr22:28706827-28706828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375022456	chr22:28706841-28706842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571891829	chr22:28706842-28706843	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563226799	chr22:28706869-28706870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191469281	chr22:28706886-28706887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs142286362	chr22:28706889-28706890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs183667548	chr22:28706957-28706958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188764027	chr22:28707076-28707077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs146069824	chr22:28707086-28707087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs181209387	chr22:28707090-28707091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs367969456	chr22:28707127-28707128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555863573	chr22:28707134-28707135	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537607246	chr22:28707183-28707184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs59602510	chr22:28707207-28707208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537310832	chr22:28707209-28707210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs61345590	chr22:28707210-28707211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557695869	chr22:28707251-28707252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538530103	chr22:28707299-28707300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553936518	chr22:28707425-28707426	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs574335920	chr22:28707456-28707457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536540361	chr22:28707465-28707466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552971383	chr22:28707482-28707483	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs76527433	chr22:28707499-28707500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542406170	chr22:28707546-28707547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555489870	chr22:28707552-28707553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371938467	chr22:28707578-28707579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573777144	chr22:28707591-28707592	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544630077	chr22:28707605-28707606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs147827461	chr22:28707679-28707680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545113346	chr22:28707719-28707720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs185436463	chr22:28707737-28707738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545327923	chr22:28707770-28707771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564797239	chr22:28707784-28707785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs575109020	chr22:28707800-28707801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs118129475	chr22:28707878-28707879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111569372	chr22:28707881-28707882	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200817182	chr22:28708024-28708025	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200319220	chr22:28708036-28708037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567396101	chr22:28708057-28708058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531275407	chr22:28708073-28708074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28693800-28709200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr22:28693800-28710400	Weak transcription	Fetal Stomach	stomach
3	chr22:28693800-28716000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr22:28694600-28711800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr22:28696200-28711800	Weak transcription	Gastric	stomach
6	chr22:28696200-28716000	Weak transcription	Fetal Lung	lung
7	chr22:28702800-28714200	Weak transcription	Dnd41	blood
8	chr22:28705000-28710800	Weak transcription	Stomach Mucosa	stomach
9	chr22:28705000-28711200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:28705600-28708000	Enhancers	HepG2	liver
11	chr22:28708000-28711800	Weak transcription	HepG2	liver
12	chr22:28709200-28709400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr22:28709600-28711800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr22:28710400-28710800	ZNF genes & repeats	Fetal Stomach	stomach
15	chr22:28710600-28710800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr22:28710800-28711000	Enhancers	Stomach Mucosa	stomach
17	chr22:28710800-28711600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr22:28710800-28712400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr22:28711000-28718400	Weak transcription	Stomach Mucosa	stomach
20	chr22:28711000-28719600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr22:28711200-28712200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr22:28711200-28713000	Enhancers	K562	blood
23	chr22:28711600-28711800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:28711600-28712200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:28711800-28712000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:28711800-28712000	Enhancers	Gastric	stomach
27	chr22:28711800-28712600	Enhancers	NHEK	skin
28	chr22:28711800-28713000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:28711800-28713000	Enhancers	HepG2	liver
30	chr22:28712000-28712200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr22:28712000-28718800	Weak transcription	Gastric	stomach
32	chr22:28712200-28725600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr22:28712800-28716400	Weak transcription	Fetal Muscle Leg	muscle
34	chr22:28713000-28713400	Weak transcription	K562	blood
35	chr22:28713000-28715800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr22:28713400-28713800	ZNF genes & repeats	K562	blood
37	chr22:28715800-28716000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:28716000-28716200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:28716000-28716200	Enhancers	Fetal Lung	lung
40	chr22:28716000-28716400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr22:28716000-28716400	Enhancers	Fetal Brain Female	brain
42	chr22:28716000-28717600	Enhancers	Adipose Nuclei	Adipose
43	chr22:28716200-28716600	Enhancers	Brain Germinal Matrix	brain
44	chr22:28716400-28722600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr22:28716600-28716800	Weak transcription	Brain Germinal Matrix	brain
46	chr22:28716800-28717200	Enhancers	Brain Germinal Matrix	brain
47	chr22:28717200-28717400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr22:28717200-28718000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr22:28717200-28726400	Weak transcription	Brain Germinal Matrix	brain
50	chr22:28717600-28718800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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