Variant report

Variant	nsv459861
Chromosome Location	chr22:27549141-27575542
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:7)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:27538495..27541084-chr22:27564637..27566301,2	MCF-7	breast:
2	chr22:27550878..27553244-chr22:27562898..27564424,2	MCF-7	breast:
3	chr22:27556840..27558835-chr22:27562664..27564858,2	K562	blood:
4	chr22:27550878..27553244-chr22:27562898..27564424,2	MCF-7	breast:
5	chr22:27556840..27558835-chr22:27562664..27564858,2	K562	blood:
6	chr22:27566640..27570192-chr22:27574924..27577106,3	MCF-7	breast:
7	chr22:27566640..27570192-chr22:27574924..27577106,3	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ENSG00000231405	chromatin interactions

Extended variants
information (count: 1196 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1196 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5997184	chr22:27549141-27549142	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs59587963	chr22:27549158-27549159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149723613	chr22:27549161-27549162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370055403	chr22:27549167-27549168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376779546	chr22:27549175-27549176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13056189	chr22:27549176-27549177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143017009	chr22:27549177-27549178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200537328	chr22:27549183-27549184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201754077	chr22:27549185-27549186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560546737	chr22:27549190-27549191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572403427	chr22:27549195-27549196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557476144	chr22:27549196-27549197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543130737	chr22:27549223-27549224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561114551	chr22:27549265-27549266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531776116	chr22:27549295-27549296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6005314	chr22:27549342-27549343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138014824	chr22:27549343-27549344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs55979965	chr22:27549346-27549347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200900167	chr22:27549375-27549376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202189851	chr22:27549377-27549378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200628310	chr22:27549379-27549380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs60795658	chr22:27549381-27549382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs5997185	chr22:27549382-27549383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532847312	chr22:27549409-27549410	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368315562	chr22:27549424-27549425	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368817966	chr22:27549452-27549453	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61564378	chr22:27549523-27549524	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs137911078	chr22:27549555-27549556	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79064616	chr22:27549556-27549557	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548289814	chr22:27549586-27549587	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5997186	chr22:27549589-27549590	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs190335792	chr22:27549590-27549591	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9625157	chr22:27549634-27549635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558828432	chr22:27549635-27549636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs60369374	chr22:27549663-27549664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs134963	chr22:27549682-27549683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397700954	chr22:27549683-27549684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200833728	chr22:27549684-27549685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142465388	chr22:27549759-27549760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553854809	chr22:27549803-27549804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181916311	chr22:27549808-27549809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187260847	chr22:27549824-27549825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs5752497	chr22:27549838-27549839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143853667	chr22:27549862-27549863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576178702	chr22:27549866-27549867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34227274	chr22:27549916-27549917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62223775	chr22:27549917-27549918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565138348	chr22:27549921-27549922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532664777	chr22:27549922-27549923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113805193	chr22:27549941-27549942	Weak transcription Enhancers	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:240 , 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	chr22:27546600-27549400	Weak transcription	Gastric	stomach
4	chr22:27546600-27550800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:27547400-27549600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:27547400-27549800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:27547400-27550200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr22:27547400-27550200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr22:27547400-27551000	Weak transcription	Brain Germinal Matrix	brain
10	chr22:27547800-27551800	Weak transcription	Fetal Brain Male	brain
11	chr22:27548000-27552200	Weak transcription	Fetal Brain Female	brain
12	chr22:27548200-27550400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr22:27548200-27550400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr22:27549400-27549600	ZNF genes & repeats	Gastric	stomach
15	chr22:27549600-27551200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:27549800-27551200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:27550000-27550200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr22:27550200-27551200	Enhancers	Primary hematopoietic stem cells	blood
19	chr22:27550200-27551400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr22:27550400-27550600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr22:27550400-27550800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr22:27550400-27551000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr22:27550600-27551200	Enhancers	Fetal Intestine Small	intestine
24	chr22:27550600-27551200	Enhancers	Ovary	ovary
25	chr22:27550800-27551000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:27550800-27551000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr22:27551000-27551200	Enhancers	Brain Germinal Matrix	brain
28	chr22:27551000-27556000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:27551200-27551600	Weak transcription	Brain Germinal Matrix	brain
30	chr22:27551600-27557600	Enhancers	Brain Germinal Matrix	brain
31	chr22:27551800-27557600	Enhancers	Fetal Brain Male	brain
32	chr22:27552200-27555600	Enhancers	Fetal Brain Female	brain
33	chr22:27553000-27553200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:27553000-27553600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:27553200-27554200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr22:27553200-27555000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:27553400-27553600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr22:27553400-27554000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr22:27553600-27554000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:27553800-27554000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr22:27554000-27554200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:27554000-27554200	Enhancers	Brain Anterior Caudate	brain
43	chr22:27554000-27554600	Enhancers	Brain Hippocampus Middle	brain
44	chr22:27554000-27554600	Enhancers	Brain Substantia Nigra	brain
45	chr22:27554000-27555000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr22:27554000-27555400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr22:27554200-27554400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:27554200-27554400	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr22:27554200-27555000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:27554400-27554600	Enhancers	Brain Anterior Caudate	brain

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