Variant report

Variant	nsv874260
Chromosome Location	chr2:72242013-72268093
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:16)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:72252380..72254794-chr2:72265320..72267657,2	K562	blood:
2	chr2:72252380..72254794-chr2:72265320..72267657,2	K562	blood:
3	chr2:72264190..72265997-chr2:72268462..72271036,2	MCF-7	breast:
4	chr2:72256489..72258573-chr2:72276583..72278171,2	MCF-7	breast:
5	chr2:72254228..72256380-chr2:72257454..72259777,2	K562	blood:
6	chr2:72251558..72253880-chr2:72264788..72266820,2	K562	blood:
7	chr2:72263419..72265202-chr2:72274518..72276341,2	MCF-7	breast:
8	chr2:72258921..72260882-chr3:96444082..96446199,2	MCF-7	breast:
9	chr2:72260431..72263653-chr2:72265872..72269120,3	MCF-7	breast:
10	chr2:72253880..72255526-chr2:72263972..72266252,2	MCF-7	breast:
11	chr2:72260431..72263653-chr2:72265872..72269120,3	MCF-7	breast:
12	chr2:72253880..72255526-chr2:72263972..72266252,2	MCF-7	breast:
13	chr2:72254228..72256380-chr2:72257454..72259777,2	K562	blood:
14	chr2:72251558..72253880-chr2:72264788..72266820,2	K562	blood:
15	chr2:72251236..72254103-chr2:72269438..72272278,2	MCF-7	breast:
16	chr2:72230167..72232433-chr2:72239268..72242132,2	MCF-7	breast:

(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-CYP26B1-1	chr2:72259360-72259893	expReg_chr2_5903_-
3	lnc-CYP26B1-3	chr2:72258046-72258456	expReg_chr2_5901_-

No data

Extended variants
information (count: 852 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:852 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2176407	chr2:72242013-72242014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542490001	chr2:72242079-72242080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560882196	chr2:72242091-72242092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559857511	chr2:72242114-72242115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199666980	chr2:72242118-72242119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531392157	chr2:72242128-72242129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549756317	chr2:72242133-72242134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565090177	chr2:72242137-72242138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370924014	chr2:72242146-72242147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532458640	chr2:72242168-72242169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547882619	chr2:72242171-72242172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566050263	chr2:72242174-72242175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536674177	chr2:72242190-72242191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191160303	chr2:72242229-72242230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72845573	chr2:72242260-72242261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138390410	chr2:72242265-72242266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115715299	chr2:72242273-72242274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142932430	chr2:72242411-72242412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538323134	chr2:72242433-72242434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553476987	chr2:72242469-72242470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571689936	chr2:72242500-72242501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71404707	chr2:72242504-72242505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145179367	chr2:72242508-72242509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542252901	chr2:72242509-72242510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181559550	chr2:72242510-72242511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113915133	chr2:72242524-72242525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185879938	chr2:72242575-72242576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543709666	chr2:72242611-72242612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148374160	chr2:72242622-72242623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532356805	chr2:72242651-72242652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568860750	chr2:72242658-72242659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541146255	chr2:72242685-72242686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559922033	chr2:72242748-72242749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377332715	chr2:72242767-72242768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191139381	chr2:72242835-72242836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531176802	chr2:72242877-72242878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551268271	chr2:72242951-72242952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548650216	chr2:72242973-72242974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576136773	chr2:72249201-72249202	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140620862	chr2:72249224-72249225	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116394767	chr2:72249238-72249239	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538280509	chr2:72249285-72249286	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539308623	chr2:72249289-72249290	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185120225	chr2:72249316-72249317	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145719521	chr2:72249318-72249319	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536888118	chr2:72249323-72249324	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116405643	chr2:72249346-72249347	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558498282	chr2:72249360-72249361	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544306309	chr2:72249369-72249370	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117875606	chr2:72249387-72249388	Bivalent Enhancer 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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72237600-72243000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr2:72241800-72243000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:72242200-72243000	Enhancers	A549	lung
4	chr2:72249200-72249400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
5	chr2:72249200-72249800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:72249800-72250200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:72249800-72250200	Enhancers	Adipose Nuclei	Adipose
8	chr2:72249800-72251400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:72250000-72250200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:72250200-72252000	Weak transcription	Adipose Nuclei	Adipose
11	chr2:72250800-72251400	Active TSS	Spleen	Spleen
12	chr2:72251400-72253200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:72251400-72259800	Weak transcription	Spleen	Spleen
14	chr2:72251800-72252200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:72251800-72252400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:72252000-72252200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:72252000-72252200	Enhancers	Adipose Nuclei	Adipose
18	chr2:72252400-72254000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:72252800-72253000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr2:72253000-72254600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:72253200-72253400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:72253400-72254000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:72253800-72255600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:72254000-72254200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:72254000-72256000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:72254200-72256000	Enhancers	Esophagus	oesophagus
27	chr2:72254400-72255800	Enhancers	NHEK	skin
28	chr2:72254600-72254800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:72254600-72255400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr2:72254600-72255600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:72254800-72255400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:72255400-72255800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:72255400-72258600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:72255600-72257600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:72255600-72260200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:72255800-72257800	Weak transcription	NHEK	skin
37	chr2:72255800-72258200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:72256000-72257600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:72257600-72260400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:72257600-72261200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:72257800-72259200	Enhancers	NHEK	skin
42	chr2:72258200-72260200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:72258400-72259200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr2:72258400-72260200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:72258600-72260200	Enhancers	Placenta Amnion	Placenta Amnion
46	chr2:72258600-72260200	Enhancers	HMEC	breast
47	chr2:72258600-72260600	Enhancers	Esophagus	oesophagus
48	chr2:72258800-72259200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:72259000-72259200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr2:72259200-72260000	Flanking Active TSS	NHEK	skin

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