Variant report

Variant	nsv874263
Chromosome Location	chr2:72251751-72279514
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:19)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:72264190..72265997-chr2:72268462..72271036,2	MCF-7	breast:
2	chr2:72253880..72255526-chr2:72263972..72266252,2	MCF-7	breast:
3	chr2:72251558..72253880-chr2:72264788..72266820,2	K562	blood:
4	chr2:72253880..72255526-chr2:72263972..72266252,2	MCF-7	breast:
5	chr2:72263419..72265202-chr2:72274518..72276341,2	MCF-7	breast:
6	chr2:72260431..72263653-chr2:72265872..72269120,3	MCF-7	breast:
7	chr2:72256489..72258573-chr2:72276583..72278171,2	MCF-7	breast:
8	chr2:72260431..72263653-chr2:72265872..72269120,3	MCF-7	breast:
9	chr2:72252380..72254794-chr2:72265320..72267657,2	K562	blood:
10	chr2:72251236..72254103-chr2:72269438..72272278,2	MCF-7	breast:
11	chr2:72263419..72265202-chr2:72274518..72276341,2	MCF-7	breast:
12	chr2:72264190..72265997-chr2:72268462..72271036,2	MCF-7	breast:
13	chr2:72251558..72253880-chr2:72264788..72266820,2	K562	blood:
14	chr2:72258921..72260882-chr3:96444082..96446199,2	MCF-7	breast:
15	chr2:72256489..72258573-chr2:72276583..72278171,2	MCF-7	breast:
16	chr2:72254228..72256380-chr2:72257454..72259777,2	K562	blood:
17	chr2:72252380..72254794-chr2:72265320..72267657,2	K562	blood:
18	chr2:72251236..72254103-chr2:72269438..72272278,2	MCF-7	breast:
19	chr2:72254228..72256380-chr2:72257454..72259777,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP26B1-2	chr2:72258480-72258794	expReg_chr2_5902_-
2	lnc-CYP26B1-3	chr2:72258046-72258456	expReg_chr2_5901_-
3	lnc-CYP26B1-1	chr2:72259360-72259893	expReg_chr2_5903_-

No data

Extended variants
information (count: 1083 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1083 , 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	rs1878503	chr2:72251751-72251752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565027352	chr2:72251752-72251753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573159964	chr2:72251757-72251758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190471706	chr2:72251770-72251771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572073425	chr2:72251773-72251774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540538522	chr2:72251806-72251807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112363197	chr2:72251813-72251814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35973611	chr2:72251826-72251827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112173844	chr2:72251869-72251870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62147747	chr2:72251919-72251920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193041197	chr2:72251948-72251949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541892711	chr2:72251985-72251986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35957177	chr2:72251999-72252000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563280934	chr2:72252004-72252005	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530517956	chr2:72252007-72252008	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185202879	chr2:72252030-72252031	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142408476	chr2:72252031-72252032	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151291097	chr2:72252047-72252048	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546601970	chr2:72252050-72252051	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35681368	chr2:72252087-72252088	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533412182	chr2:72252094-72252095	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568227854	chr2:72252114-72252115	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529597386	chr2:72252132-72252133	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373364700	chr2:72252159-72252160	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535328107	chr2:72252167-72252168	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188488639	chr2:72252198-72252199	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370440886	chr2:72252210-72252211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549582993	chr2:72252220-72252221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13412195	chr2:72252223-72252224	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs140624947	chr2:72252261-72252262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377749918	chr2:72252283-72252284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181430203	chr2:72252285-72252286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150490550	chr2:72252333-72252334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371307506	chr2:72252355-72252356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544527116	chr2:72252385-72252386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374159429	chr2:72252545-72252546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185281081	chr2:72252563-72252564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575371697	chr2:72252581-72252582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10180343	chr2:72252605-72252606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564045720	chr2:72252630-72252631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57650389	chr2:72252661-72252662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs188419076	chr2:72252672-72252673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561878175	chr2:72252681-72252682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529188224	chr2:72252693-72252694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114663038	chr2:72252730-72252731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568725190	chr2:72252750-72252751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182010397	chr2:72252751-72252752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539517943	chr2:72252793-72252794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs36076688	chr2:72252796-72252797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533979309	chr2:72252842-72252843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72250200-72252000	Weak transcription	Adipose Nuclei	Adipose
2	chr2:72251400-72253200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:72251400-72259800	Weak transcription	Spleen	Spleen
4	chr2:72251800-72252200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:72251800-72252400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:72252000-72252200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:72252000-72252200	Enhancers	Adipose Nuclei	Adipose
8	chr2:72252400-72254000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:72252800-72253000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr2:72253000-72254600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:72253200-72253400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:72253400-72254000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:72253800-72255600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:72254000-72254200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:72254000-72256000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:72254200-72256000	Enhancers	Esophagus	oesophagus
17	chr2:72254400-72255800	Enhancers	NHEK	skin
18	chr2:72254600-72254800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:72254600-72255400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr2:72254600-72255600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:72254800-72255400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:72255400-72255800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:72255400-72258600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:72255600-72257600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:72255600-72260200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:72255800-72257800	Weak transcription	NHEK	skin
27	chr2:72255800-72258200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:72256000-72257600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:72257600-72260400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:72257600-72261200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:72257800-72259200	Enhancers	NHEK	skin
32	chr2:72258200-72260200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:72258400-72259200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:72258400-72260200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:72258600-72260200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr2:72258600-72260200	Enhancers	HMEC	breast
37	chr2:72258600-72260600	Enhancers	Esophagus	oesophagus
38	chr2:72258800-72259200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:72259000-72259200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr2:72259200-72260000	Flanking Active TSS	NHEK	skin
41	chr2:72259200-72264200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:72259800-72262000	Enhancers	Spleen	Spleen
43	chr2:72260000-72261400	Enhancers	Hela-S3	cervix
44	chr2:72260000-72261400	Enhancers	NHEK	skin
45	chr2:72260200-72261400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:72260200-72261400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:72260200-72261600	Enhancers	Adipose Nuclei	Adipose
48	chr2:72260200-72262600	Weak transcription	HMEC	breast
49	chr2:72260200-72263200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr2:72260200-72264000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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