Variant report

Variant	nsv588874
Chromosome Location	chr22:27550764-27575542
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	chr22:27566640..27570192-chr22:27574924..27577106,3	MCF-7	breast:
2	chr22:27556840..27558835-chr22:27562664..27564858,2	K562	blood:
3	chr22:27538495..27541084-chr22:27564637..27566301,2	MCF-7	breast:
4	chr22:27550878..27553244-chr22:27562898..27564424,2	MCF-7	breast:
5	chr22:27550878..27553244-chr22:27562898..27564424,2	MCF-7	breast:
6	chr22:27556840..27558835-chr22:27562664..27564858,2	K562	blood:
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	chr22:27572057-27572522	l_2265_chr22:27564954-27570431_kidney
2	lnc-CRYBA4-5	chr22:27555420-27555840	XLOC_014194
3	lnc-CRYBA4-12	chr22:27564955-27564999	l_2265_chr22:27564954-27570431_kidney
4	lnc-CRYBA4-12	chr22:27570115-27571080	l_2265_chr22:27564954-27570431_kidney

No data

Variant related genes	Relation type
ENSG00000231405	chromatin interactions

Extended variants
information (count: 1105 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1105 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575053460	chr22:27550764-27550765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529541556	chr22:27550802-27550803	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs553293566	chr22:27550810-27550811	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575145654	chr22:27550822-27550823	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs543308211	chr22:27550826-27550827	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542554375	chr22:27550865-27550866	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs193078221	chr22:27550878-27550879	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs184662245	chr22:27550888-27550889	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs543305255	chr22:27550910-27550911	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs149803038	chr22:27550921-27550922	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145695398	chr22:27550979-27550980	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs528218563	chr22:27550991-27550992	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs188979231	chr22:27551064-27551065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568181203	chr22:27551083-27551084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529126199	chr22:27551106-27551107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560109489	chr22:27551128-27551129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191714330	chr22:27551155-27551156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568848238	chr22:27551182-27551183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115941136	chr22:27551204-27551205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558729390	chr22:27551220-27551221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75755335	chr22:27551239-27551240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534817144	chr22:27551318-27551319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553496836	chr22:27551384-27551385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575106514	chr22:27551398-27551399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143177828	chr22:27551432-27551433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557669280	chr22:27551527-27551528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542463807	chr22:27551581-27551582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61473138	chr22:27551582-27551583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35507024	chr22:27551585-27551586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58393551	chr22:27551588-27551589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575752124	chr22:27551603-27551604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146768582	chr22:27551606-27551607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114290485	chr22:27551639-27551640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183854863	chr22:27551640-27551641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572863722	chr22:27551646-27551647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140407210	chr22:27551657-27551658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561476158	chr22:27551695-27551696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529040246	chr22:27551774-27551775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532353382	chr22:27551785-27551786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs5997187	chr22:27551790-27551791	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs562439959	chr22:27551810-27551811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571262450	chr22:27551850-27551851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533061315	chr22:27551881-27551882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113639199	chr22:27551891-27551892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374901279	chr22:27551901-27551902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570772254	chr22:27551954-27551955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189022059	chr22:27551980-27551981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11913039	chr22:27552018-27552019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568602221	chr22:27552033-27552034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138040007	chr22:27552058-27552059	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:230 , 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	chr22:27547400-27551000	Weak transcription	Brain Germinal Matrix	brain
5	chr22:27547800-27551800	Weak transcription	Fetal Brain Male	brain
6	chr22:27548000-27552200	Weak transcription	Fetal Brain Female	brain
7	chr22:27549600-27551200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:27549800-27551200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:27550200-27551200	Enhancers	Primary hematopoietic stem cells	blood
10	chr22:27550200-27551400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr22:27550400-27550800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr22:27550400-27551000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr22:27550600-27551200	Enhancers	Fetal Intestine Small	intestine
14	chr22:27550600-27551200	Enhancers	Ovary	ovary
15	chr22:27550800-27551000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:27550800-27551000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr22:27551000-27551200	Enhancers	Brain Germinal Matrix	brain
18	chr22:27551000-27556000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:27551200-27551600	Weak transcription	Brain Germinal Matrix	brain
20	chr22:27551600-27557600	Enhancers	Brain Germinal Matrix	brain
21	chr22:27551800-27557600	Enhancers	Fetal Brain Male	brain
22	chr22:27552200-27555600	Enhancers	Fetal Brain Female	brain
23	chr22:27553000-27553200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:27553000-27553600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:27553200-27554200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr22:27553200-27555000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:27553400-27553600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr22:27553400-27554000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:27553600-27554000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:27553800-27554000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr22:27554000-27554200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:27554000-27554200	Enhancers	Brain Anterior Caudate	brain
33	chr22:27554000-27554600	Enhancers	Brain Hippocampus Middle	brain
34	chr22:27554000-27554600	Enhancers	Brain Substantia Nigra	brain
35	chr22:27554000-27555000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr22:27554000-27555400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:27554200-27554400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr22:27554200-27554400	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr22:27554200-27555000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:27554400-27554600	Enhancers	Brain Anterior Caudate	brain
41	chr22:27554800-27555400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr22:27555000-27555200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr22:27555000-27555200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr22:27555000-27555200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:27555000-27555200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:27555000-27555200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr22:27555000-27555200	Enhancers	Placenta Amnion	Placenta Amnion
48	chr22:27555000-27556600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr22:27555000-27556800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr22:27555000-27556800	Enhancers	HUES6 Cell Line	embryonic stem cell

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