Variant report

Variant	nsv524628
Chromosome Location	chr22:30575163-30581722
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30580247..30582662-chr22:30589957..30592306,3	K562	blood:
2	chr22:30578652..30582637-chr22:30590732..30593754,4	K562	blood:
3	chr22:30570903..30573377-chr22:30579968..30581667,2	MCF-7	breast:
4	chr22:30580792..30583176-chr22:30587270..30589662,2	K562	blood:
5	chr22:30574627..30577107-chr22:30609828..30612772,2	MCF-7	breast:
6	chr22:30581590..30584656-chr22:30647877..30650932,3	MCF-7	breast:
7	chr22:30578823..30581368-chr22:30643689..30645542,2	MCF-7	breast:
8	chr22:30578196..30581092-chr22:30585737..30587811,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LIF-1	chr22:30580633-30580770	ENSG00000225676.1

No data

Extended variants
information (count: 185 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10483158	chr22:30575163-30575164	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186000512	chr22:30575178-30575179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552026219	chr22:30575211-30575212	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570486900	chr22:30575239-30575240	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs534344106	chr22:30575241-30575242	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs199703738	chr22:30575275-30575276	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs147200114	chr22:30575292-30575293	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs536577157	chr22:30575309-30575310	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs5763851	chr22:30575322-30575323	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs192109026	chr22:30575453-30575454	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537614212	chr22:30575467-30575468	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184097287	chr22:30575503-30575504	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577236528	chr22:30575564-30575565	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541450880	chr22:30575572-30575573	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188610761	chr22:30575601-30575602	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117721749	chr22:30575602-30575603	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371297295	chr22:30575626-30575627	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563589967	chr22:30575630-30575631	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530627267	chr22:30575740-30575741	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28537521	chr22:30575743-30575744	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13054837	chr22:30575749-30575750	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs142229613	chr22:30575769-30575770	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151026207	chr22:30575770-30575771	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192227968	chr22:30575776-30575777	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12167333	chr22:30575812-30575813	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs62226393	chr22:30575884-30575885	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62226394	chr22:30575888-30575889	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62226395	chr22:30575890-30575891	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62226396	chr22:30575893-30575894	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs62226397	chr22:30575896-30575897	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62226398	chr22:30575898-30575899	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567765147	chr22:30575908-30575909	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375309048	chr22:30576036-30576037	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552796568	chr22:30576078-30576079	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs5763852	chr22:30576125-30576126	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs139694494	chr22:30576180-30576181	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547869560	chr22:30576188-30576189	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372002591	chr22:30576243-30576244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182445754	chr22:30576263-30576264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537266577	chr22:30576290-30576291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559071553	chr22:30576293-30576294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186896709	chr22:30576323-30576324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535147987	chr22:30576346-30576347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376812001	chr22:30576500-30576501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143641673	chr22:30576557-30576558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146813668	chr22:30576558-30576559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74462753	chr22:30576638-30576639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556978206	chr22:30576639-30576640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114700622	chr22:30576708-30576709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376050294	chr22:30576740-30576741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
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
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30572000-30575400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr22:30572000-30577400	Weak transcription	Fetal Intestine Small	intestine
3	chr22:30572200-30575600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:30572200-30576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:30572800-30578000	Weak transcription	Spleen	Spleen
6	chr22:30572800-30579000	Weak transcription	Fetal Brain Male	brain
7	chr22:30573200-30575400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr22:30573200-30576400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr22:30573400-30575400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr22:30573400-30575600	Enhancers	Primary T cells from cord blood	blood
11	chr22:30573400-30575600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr22:30573400-30575600	Enhancers	Thymus	Thymus
13	chr22:30573400-30575800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr22:30573600-30576400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr22:30573600-30579400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr22:30573800-30575200	Enhancers	Fetal Thymus	thymus
17	chr22:30573800-30575600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr22:30574000-30575800	Enhancers	Dnd41	blood
19	chr22:30574200-30575600	Enhancers	A549	lung
20	chr22:30574400-30575200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr22:30574400-30575400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr22:30574400-30583600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr22:30574800-30579400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr22:30575000-30575400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr22:30575000-30579800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr22:30575000-30583600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr22:30575200-30575600	Active TSS	Primary B cells from cord blood	blood
28	chr22:30575200-30578400	Weak transcription	Fetal Thymus	thymus
29	chr22:30575200-30580000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr22:30575400-30576200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr22:30575400-30579000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr22:30575400-30584400	Enhancers	Primary hematopoietic stem cells	blood
33	chr22:30575400-30584800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr22:30575600-30575800	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr22:30575600-30577400	Weak transcription	Thymus	Thymus
36	chr22:30575600-30577600	Weak transcription	A549	lung
37	chr22:30575600-30579800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr22:30575600-30583400	Weak transcription	Primary T cells from cord blood	blood
39	chr22:30575600-30584600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr22:30575800-30576200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr22:30575800-30577800	Enhancers	Primary B cells from cord blood	blood
42	chr22:30575800-30578400	Weak transcription	Dnd41	blood
43	chr22:30576200-30576400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr22:30576200-30577600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr22:30576200-30588000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr22:30576400-30577600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr22:30576400-30577600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr22:30576400-30579800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr22:30577200-30578600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr22:30577200-30580200	Enhancers	HepG2	liver

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