Variant report

Variant	nsv588876
Chromosome Location	chr22:27852183-27867567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:165)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:165 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:27858256-27858552	HepG2	liver:	n/a	n/a
2	BRCA1	chr22:27858110-27858278	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr22:27859025-27859065	HepG2	liver:	n/a	n/a
4	CEBPB	chr22:27858249-27858545	HepG2	liver:	n/a	n/a
5	CTBP2	chr22:27857413-27857767	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr22:27865420-27865570	AoAF	blood vessel:	n/a	n/a
7	CTCF	chr22:27865420-27865570	BJ	skin:	n/a	n/a
8	CTCF	chr22:27865420-27865570	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr22:27865320-27865470	HA-sp	spinal cord:	n/a	n/a
10	CTCF	chr22:27865400-27865550	HCM	heart:	n/a	n/a
11	CTCF	chr22:27865420-27865570	AG04450	lung:	n/a	n/a
12	CTCF	chr22:27865360-27865510	NHEK	skin:	n/a	n/a
13	CTCF	chr22:27853716-27853724	K562	blood:	n/a	n/a
14	CTCF	chr22:27865420-27865570	HEK293	kidney:	n/a	n/a
15	CTCF	chr22:27865360-27865510	AG04450	lung:	n/a	n/a
16	CTCF	chr22:27865440-27865590	HAc	cerebellar:	n/a	n/a
17	CTCF	chr22:27865360-27865510	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr22:27865420-27865570	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr22:27865380-27865530	HBMEC	blood vessel:	n/a	n/a
20	CTCF	chr22:27865440-27865590	RPTEC	kidney:	n/a	n/a
21	CTCF	chr22:27865400-27865550	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr22:27865420-27865570	AG04449	skin:	n/a	n/a
23	CTCF	chr22:27865300-27865570	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr22:27865420-27865570	HPF	lung:	n/a	n/a
25	CTCF	chr22:27865450-27865649	IMR90	lung:	n/a	n/a
26	CTCF	chr22:27865420-27865570	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr22:27865380-27865530	AG09309	skin:	n/a	n/a
28	CTCF	chr22:27865420-27865570	AG10803	skin:	n/a	n/a
29	CTCF	chr22:27865380-27865530	AG04449	skin:	n/a	n/a
30	CTCF	chr22:27865400-27865550	AG10803	skin:	n/a	n/a
31	CTCF	chr22:27865480-27865630	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr22:27865420-27865570	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr22:27865440-27865590	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr22:27864720-27864870	HEK293	kidney:	n/a	n/a
35	CTCF	chr22:27865380-27865530	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr22:27865380-27865530	HCFaa	heart:	n/a	n/a
37	CTCF	chr22:27853566-27853672	NHEK	skin:	n/a	n/a
38	CTCF	chr22:27865420-27865570	HBMEC	blood vessel:	n/a	n/a
39	E2F4	chr22:27852746-27853227	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr22:27858402-27858528	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F6	chr22:27856019-27856425	H1-hESC	embryonic stem cell:	n/a	n/a
42	E2F6	chr22:27855909-27856452	H1-hESC	embryonic stem cell:	n/a	n/a
43	E2F6	chr22:27853531-27853686	K562	blood:	n/a	n/a
44	EP300	chr22:27857209-27857994	ECC-1	luminal epithelium:	n/a	n/a
45	EP300	chr22:27857366-27857888	ECC-1	luminal epithelium:	n/a	n/a
46	EP300	chr22:27857415-27857789	H1-hESC	embryonic stem cell:	n/a	n/a
47	EP300	chr22:27852657-27853688	SK-N-SH	brain:	n/a	n/a
48	EP300	chr22:27852965-27853403	SK-N-SH_RA	brain:	n/a	n/a
49	FOS	chr22:27856871-27857267	HUVEC	blood vessel:	n/a	chr22:27857072-27857083
50	FOS	chr22:27852842-27853439	MCF10A-Er-Src	breast:	n/a	chr22:27853027-27853038

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:27857934..27860311-chr22:27860712..27862590,2	K562	blood:
2	chr22:27866106..27868874-chr22:27870811..27872384,2	MCF-7	breast:
3	chr22:27857934..27860311-chr22:27860712..27862590,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MN1-4	chr22:27853208-27853691	XLOC_014330
2	lnc-MN1-4	chr22:27855736-27856021	XLOC_014330

No data

Variant related genes	Relation type
ENSG00000227880	TF binding region
PHF12	miRNA target sites
VCL	miRNA target sites

Extended variants
information (count: 631 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:631 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6005451	chr22:27852183-27852184	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs35164416	chr22:27852184-27852185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561966431	chr22:27852222-27852223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76254715	chr22:27852253-27852254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544313650	chr22:27852258-27852259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372377717	chr22:27852269-27852270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546029499	chr22:27852270-27852271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs910402	chr22:27852275-27852276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs76691373	chr22:27852307-27852308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560727118	chr22:27852309-27852310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542087920	chr22:27852315-27852316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528023209	chr22:27852320-27852321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549631883	chr22:27852342-27852343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138269569	chr22:27852347-27852348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531299993	chr22:27852353-27852354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549926773	chr22:27852383-27852384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567601728	chr22:27852475-27852476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528009210	chr22:27852486-27852487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs738573	chr22:27852488-27852489	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs149598885	chr22:27852493-27852494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188926359	chr22:27852531-27852532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554812313	chr22:27852568-27852569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2009947	chr22:27852569-27852570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544152243	chr22:27852572-27852573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs879342	chr22:27852587-27852588	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577756048	chr22:27852593-27852594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545095632	chr22:27852614-27852615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35286139	chr22:27852615-27852616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182460931	chr22:27852692-27852693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529634216	chr22:27852706-27852707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185412738	chr22:27852758-27852759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542969415	chr22:27852762-27852763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79989561	chr22:27852797-27852798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189629393	chr22:27852803-27852804	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs144278019	chr22:27852813-27852814	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs148724566	chr22:27852837-27852838	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs532270790	chr22:27852841-27852842	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs547450756	chr22:27852857-27852858	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs4822881	chr22:27852867-27852868	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs536417158	chr22:27852889-27852890	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs73158492	chr22:27852890-27852891	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs77233712	chr22:27852955-27852956	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs565951441	chr22:27852956-27852957	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs180852928	chr22:27853004-27853005	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs556185273	chr22:27853009-27853010	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs577593151	chr22:27853014-27853015	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs545138161	chr22:27853024-27853025	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs5752550	chr22:27853029-27853030	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs554196823	chr22:27853080-27853081	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs185590424	chr22:27853081-27853082	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27849400-27852600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr22:27849800-27854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:27850000-27852400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:27850800-27853200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:27851000-27853200	Enhancers	NHEK	skin
6	chr22:27851000-27855000	Enhancers	HMEC	breast
7	chr22:27851000-27855400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr22:27851000-27856000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr22:27851200-27852200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:27851200-27852800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:27851200-27855000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:27851200-27857400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:27851200-27857400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:27851200-27857400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:27851400-27852600	Weak transcription	NH-A	brain
16	chr22:27851400-27852800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr22:27851600-27852800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:27851600-27852800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr22:27851800-27852800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr22:27851800-27855800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr22:27852000-27853400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr22:27852200-27854200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:27852200-27854200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:27852400-27852800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:27852400-27854400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr22:27852600-27853000	Enhancers	Osteobl	bone
27	chr22:27852600-27853200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:27852600-27853800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr22:27852600-27853800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:27852600-27853800	Enhancers	A549	lung
31	chr22:27852600-27853800	Enhancers	NHLF	lung
32	chr22:27852600-27854000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:27852600-27854000	Enhancers	NH-A	brain
34	chr22:27852600-27854000	Enhancers	NHDF-Ad	bronchial
35	chr22:27852600-27854200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:27852600-27855000	Enhancers	HSMM	muscle
37	chr22:27852600-27858400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr22:27852800-27853000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr22:27852800-27853000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr22:27852800-27853000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr22:27852800-27853600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr22:27852800-27853600	Bivalent Enhancer	Fetal Stomach	stomach
43	chr22:27852800-27853800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:27852800-27853800	Enhancers	HSMMtube	muscle
45	chr22:27852800-27854000	Enhancers	HUVEC	blood vessel
46	chr22:27852800-27854200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr22:27852800-27854400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr22:27853000-27853200	Flanking Active TSS	Osteobl	bone
49	chr22:27853000-27853400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr22:27853000-27853600	Weak transcription	H9 Cell Line	embryonic stem cell

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