Variant report

Variant	nsv1063215
Chromosome Location	chr22:27557040-27581253
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:3)
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	chr22:27550878..27553244-chr22:27562898..27564424,2	MCF-7	breast:
2	chr22:27538495..27541084-chr22:27564637..27566301,2	MCF-7	breast:
3	chr22:27556840..27558835-chr22:27562664..27564858,2	K562	blood:
4	chr22:27566640..27570192-chr22:27574924..27577106,3	MCF-7	breast:
5	chr22:27556840..27558835-chr22:27562664..27564858,2	K562	blood:
6	chr22:27576869..27580791-chr22:27581101..27584766,3	MCF-7	breast:
7	chr22:27566640..27570192-chr22:27574924..27577106,3	MCF-7	breast:
8	chr22:27576869..27580791-chr22:27581101..27584766,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRYBA4-12	chr22:27570115-27571080	l_2265_chr22:27564954-27570431_kidney
2	lnc-CRYBA4-12	chr22:27572057-27572522	l_2265_chr22:27564954-27570431_kidney
3	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: 1093 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1093 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9620666	chr22:27557040-27557041	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145571309	chr22:27557045-27557046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540000644	chr22:27557059-27557060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561565215	chr22:27557077-27557078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188605800	chr22:27557092-27557093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529191137	chr22:27557093-27557094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544157284	chr22:27557098-27557099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9620667	chr22:27557155-27557156	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191513385	chr22:27557187-27557188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115079960	chr22:27557223-27557224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117744192	chr22:27557244-27557245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562579738	chr22:27557265-27557266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528604849	chr22:27557347-27557348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17433244	chr22:27557349-27557350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9625165	chr22:27557351-27557352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185293685	chr22:27557387-27557388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557352291	chr22:27557397-27557398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377764146	chr22:27557402-27557403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114633113	chr22:27557412-27557413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539057481	chr22:27557498-27557499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148841998	chr22:27557530-27557531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567649727	chr22:27557542-27557543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533608118	chr22:27557567-27557568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539964870	chr22:27557605-27557606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555071697	chr22:27557623-27557624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189968200	chr22:27557662-27557663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9625166	chr22:27557735-27557736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs9625167	chr22:27557761-27557762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533258149	chr22:27557764-27557765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117586828	chr22:27557779-27557780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182554227	chr22:27557802-27557803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57936818	chr22:27557838-27557839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79075996	chr22:27557850-27557851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397977611	chr22:27557851-27557852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528567703	chr22:27557915-27557916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559098254	chr22:27557920-27557921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs134967	chr22:27557929-27557930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568600276	chr22:27557958-27557959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529499582	chr22:27557960-27557961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59862997	chr22:27557972-27557973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569411835	chr22:27557983-27557984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116127287	chr22:27557999-27558000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574061677	chr22:27558030-27558031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557443693	chr22:27558068-27558069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs137885687	chr22:27558091-27558092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553545188	chr22:27558142-27558143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533577921	chr22:27558164-27558165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187124621	chr22:27558188-27558189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188384892	chr22:27558218-27558219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111863479	chr22:27558253-27558254	Weak transcription	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:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27551600-27557600	Enhancers	Brain Germinal Matrix	brain
2	chr22:27551800-27557600	Enhancers	Fetal Brain Male	brain
3	chr22:27555600-27557600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:27556000-27557200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:27556000-27557200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:27556000-27557200	Enhancers	Fetal Brain Female	brain
7	chr22:27556400-27557200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:27557200-27557400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:27557200-27560400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:27557200-27569800	Weak transcription	Fetal Brain Female	brain
11	chr22:27557600-27560600	Weak transcription	Fetal Brain Male	brain
12	chr22:27559200-27565400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr22:27560400-27561800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:27560600-27560800	Enhancers	Fetal Brain Male	brain
15	chr22:27561800-27565400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:27563000-27566200	Weak transcription	Aorta	Aorta
17	chr22:27565400-27565600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:27565400-27566800	Enhancers	Fetal Intestine Small	intestine
19	chr22:27565400-27567000	Enhancers	Duodenum Mucosa	Duodenum
20	chr22:27565400-27567200	Enhancers	Fetal Intestine Large	intestine
21	chr22:27565600-27566000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:27565800-27566400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:27566000-27566200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr22:27566000-27566200	Enhancers	Osteobl	bone
25	chr22:27566000-27566400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr22:27566000-27567200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr22:27566000-27567200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:27566000-27567200	Enhancers	NHDF-Ad	bronchial
29	chr22:27566000-27567200	Enhancers	NHLF	lung
30	chr22:27566000-27567400	Enhancers	HSMM	muscle
31	chr22:27566000-27567800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:27566000-27568000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr22:27566200-27566400	Enhancers	Spleen	Spleen
34	chr22:27566200-27566600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr22:27566200-27566600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr22:27566200-27566800	Enhancers	Small Intestine	intestine
37	chr22:27566200-27567000	Enhancers	NH-A	brain
38	chr22:27566200-27567000	Flanking Active TSS	Osteobl	bone
39	chr22:27566200-27567200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:27566200-27567200	Enhancers	Aorta	Aorta
41	chr22:27566200-27567200	Enhancers	HSMMtube	muscle
42	chr22:27566200-27567400	Enhancers	Adipose Nuclei	Adipose
43	chr22:27566200-27567400	Enhancers	Rectal Smooth Muscle	rectum
44	chr22:27566200-27567400	Enhancers	Stomach Smooth Muscle	stomach
45	chr22:27566400-27566600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:27566400-27566800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr22:27566400-27566800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr22:27566400-27566800	Enhancers	HUVEC	blood vessel
49	chr22:27566400-27567000	Enhancers	Colon Smooth Muscle	Colon
50	chr22:27566400-27567200	Bivalent Enhancer	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links