Variant report

Variant	esv2762118
Chromosome Location	chr22:27549920-27579317
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:4)
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	chr22:27556840..27558835-chr22:27562664..27564858,2	K562	blood:
2	chr22:27556840..27558835-chr22:27562664..27564858,2	K562	blood:
3	chr22:27550878..27553244-chr22:27562898..27564424,2	MCF-7	breast:
4	chr22:27566640..27570192-chr22:27574924..27577106,3	MCF-7	breast:
5	chr22:27566640..27570192-chr22:27574924..27577106,3	MCF-7	breast:
6	chr22:27576869..27580791-chr22:27581101..27584766,3	MCF-7	breast:
7	chr22:27538495..27541084-chr22:27564637..27566301,2	MCF-7	breast:
8	chr22:27550878..27553244-chr22:27562898..27564424,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRYBA4-5	chr22:27555420-27555840	XLOC_014194
2	lnc-CRYBA4-12	chr22:27570115-27571080	l_2265_chr22:27564954-27570431_kidney
3	lnc-CRYBA4-12	chr22:27572057-27572522	l_2265_chr22:27564954-27570431_kidney
4	lnc-CRYBA4-12	chr22:27564955-27564999	l_2265_chr22:27564954-27570431_kidney

No data

Variant related genes	Relation type
ENSG00000231405	chromatin interactions

Extended variants
information (count: 1313 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1313 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565138348	chr22:27549921-27549922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532664777	chr22:27549922-27549923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113805193	chr22:27549941-27549942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559828511	chr22:27549942-27549943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529669791	chr22:27549954-27549955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191894274	chr22:27549956-27549957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569757903	chr22:27549961-27549962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537153004	chr22:27550026-27550027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs36098684	chr22:27550050-27550051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552354384	chr22:27550067-27550068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182992073	chr22:27550088-27550089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141562719	chr22:27550089-27550090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187569500	chr22:27550098-27550099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11913934	chr22:27550111-27550112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191617217	chr22:27550114-27550115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376010659	chr22:27550129-27550130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182514016	chr22:27550165-27550166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150913364	chr22:27550189-27550190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543529671	chr22:27550207-27550208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117245253	chr22:27550245-27550246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140070669	chr22:27550281-27550282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557730341	chr22:27550301-27550302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187549934	chr22:27550326-27550327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145608987	chr22:27550351-27550352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147720911	chr22:27550353-27550354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9620662	chr22:27550363-27550364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369958215	chr22:27550413-27550414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541806884	chr22:27550449-27550450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140776817	chr22:27550451-27550452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530593430	chr22:27550454-27550455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192028531	chr22:27550476-27550477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542372995	chr22:27550479-27550480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2205642	chr22:27550490-27550491	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546528049	chr22:27550516-27550517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562150616	chr22:27550547-27550548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372601737	chr22:27550639-27550640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9625158	chr22:27550640-27550641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35851645	chr22:27550649-27550650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554512994	chr22:27550668-27550669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372818849	chr22:27550669-27550670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12166355	chr22:27550702-27550703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75244678	chr22:27550718-27550719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6005316	chr22:27550744-27550745	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs5752498	chr22:27550749-27550750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575053460	chr22:27550764-27550765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529541556	chr22:27550802-27550803	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs553293566	chr22:27550810-27550811	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs575145654	chr22:27550822-27550823	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs543308211	chr22:27550826-27550827	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs542554375	chr22:27550865-27550866	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	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
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Cancer	21183584	CNVD
Breast cancer	17142309	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27536600-27555000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr22:27545800-27551200	Enhancers	HUVEC	blood vessel
3	chr22:27546600-27550800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:27547400-27550200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr22:27547400-27550200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr22:27547400-27551000	Weak transcription	Brain Germinal Matrix	brain
7	chr22:27547800-27551800	Weak transcription	Fetal Brain Male	brain
8	chr22:27548000-27552200	Weak transcription	Fetal Brain Female	brain
9	chr22:27548200-27550400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr22:27548200-27550400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr22:27549600-27551200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:27549800-27551200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:27550000-27550200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:27550200-27551200	Enhancers	Primary hematopoietic stem cells	blood
15	chr22:27550200-27551400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr22:27550400-27550600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr22:27550400-27550800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr22:27550400-27551000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr22:27550600-27551200	Enhancers	Fetal Intestine Small	intestine
20	chr22:27550600-27551200	Enhancers	Ovary	ovary
21	chr22:27550800-27551000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:27550800-27551000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr22:27551000-27551200	Enhancers	Brain Germinal Matrix	brain
24	chr22:27551000-27556000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:27551200-27551600	Weak transcription	Brain Germinal Matrix	brain
26	chr22:27551600-27557600	Enhancers	Brain Germinal Matrix	brain
27	chr22:27551800-27557600	Enhancers	Fetal Brain Male	brain
28	chr22:27552200-27555600	Enhancers	Fetal Brain Female	brain
29	chr22:27553000-27553200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr22:27553000-27553600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:27553200-27554200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:27553200-27555000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:27553400-27553600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr22:27553400-27554000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr22:27553600-27554000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:27553800-27554000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr22:27554000-27554200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:27554000-27554200	Enhancers	Brain Anterior Caudate	brain
39	chr22:27554000-27554600	Enhancers	Brain Hippocampus Middle	brain
40	chr22:27554000-27554600	Enhancers	Brain Substantia Nigra	brain
41	chr22:27554000-27555000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr22:27554000-27555400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:27554200-27554400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr22:27554200-27554400	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr22:27554200-27555000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:27554400-27554600	Enhancers	Brain Anterior Caudate	brain
47	chr22:27554800-27555400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr22:27555000-27555200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr22:27555000-27555200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr22:27555000-27555200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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