Variant report

Variant	nsv900882
Chromosome Location	chr13:92228446-92304974
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:122)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr13:92259665..92261733-chr13:92263438..92266415,2	K562	blood:
2	chr13:92239975..92242011-chr13:92243132..92246176,3	K562	blood:
3	chr13:92002931..92005760-chr13:92245591..92249078,3	K562	blood:
4	chr13:92248261..92249919-chr13:92251613..92253599,2	K562	blood:
5	chr13:92238105..92241070-chr13:92253947..92255576,2	K562	blood:
6	chr13:92293314..92295446-chr13:92296832..92298493,2	K562	blood:
7	chr13:92235247..92237716-chr13:92246405..92249429,3	K562	blood:
8	chr13:92006867..92008731-chr13:92240311..92242037,2	K562	blood:
9	chr13:92280416..92282576-chr13:92285378..92288732,3	K562	blood:
10	chr13:92297056..92300246-chr13:92301325..92305110,3	K562	blood:
11	chr13:92271343..92273081-chr13:92275207..92276860,2	K562	blood:
12	chr13:92004766..92008845-chr13:92235897..92239237,4	K562	blood:
13	chr13:92239975..92242011-chr13:92243132..92246176,3	K562	blood:
14	chr13:92267921..92270125-chr13:92273063..92275419,2	K562	blood:
15	chr13:92272769..92274272-chr13:92276484..92278255,2	K562	blood:
16	chr13:92007143..92009275-chr13:92226841..92229581,3	K562	blood:
17	chr13:92164942..92167877-chr13:92227738..92230237,2	K562	blood:
18	chr13:92291806..92294892-chr13:92297523..92300021,4	K562	blood:
19	chr13:92298019..92302029-chr13:92302074..92306168,5	K562	blood:
20	chr13:92239975..92242256-chr13:92242263..92244632,2	K562	blood:
21	chr13:92239975..92242256-chr13:92242263..92244632,2	K562	blood:
22	chr13:92262332..92265474-chr13:92267151..92270274,3	K562	blood:
23	chr13:92230196..92232882-chr13:92239381..92242143,2	K562	blood:
24	chr13:92243534..92246782-chr13:92263932..92267998,4	K562	blood:
25	chr13:92230196..92232882-chr13:92239381..92242143,2	K562	blood:
26	chr13:92245236..92246782-chr13:92265114..92267999,2	K562	blood:
27	chr13:92227917..92229950-chr13:92230948..92232962,2	K562	blood:
28	chr13:91998570..92001395-chr13:92249763..92252291,3	K562	blood:
29	chr13:92291806..92294892-chr13:92297523..92300021,4	K562	blood:
30	chr13:92280416..92282576-chr13:92286859..92289311,3	K562	blood:
31	chr13:92297130..92298943-chr13:92307852..92310452,2	K562	blood:
32	chr13:92275474..92278880-chr13:92281265..92284500,3	K562	blood:
33	chr13:91998514..92002509-chr13:92292790..92300343,7	K562	blood:
34	chr13:92006882..92008856-chr13:92229692..92231220,2	K562	blood:
35	chr13:92011668..92014264-chr13:92248791..92250619,2	K562	blood:
36	chr13:92020617..92022314-chr13:92292889..92295521,2	K562	blood:
37	chr13:92236165..92237762-chr13:92267223..92269293,2	K562	blood:
38	chr13:92004766..92010130-chr13:92235897..92240121,6	K562	blood:
39	chr13:92228802..92230476-chr13:92232777..92234570,2	K562	blood:
40	chr13:92272769..92274272-chr13:92276484..92278255,2	K562	blood:
41	chr13:92210121..92212053-chr13:92229596..92232214,2	K562	blood:
42	chr13:92236165..92237762-chr13:92267223..92269293,2	K562	blood:
43	chr13:92297056..92300246-chr13:92301325..92305110,3	K562	blood:
44	chr13:92262226..92264214-chr13:92297323..92300140,2	K562	blood:
45	chr13:92007143..92009275-chr13:92226841..92229581,2	K562	blood:
46	chr13:91999034..92001633-chr13:92263659..92265183,2	K562	blood:
47	chr13:92236216..92239196-chr13:92246077..92248763,2	K562	blood:
48	chr13:92119062..92121463-chr13:92291880..92293411,2	K562	blood:
49	chr13:91999422..92001963-chr13:92245508..92247881,2	K562	blood:
50	chr13:92235247..92237716-chr13:92246405..92249429,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 3024 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:3024 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9589298	chr13:92228446-92228447	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555100314	chr13:92228455-92228456	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs386773338	chr13:92228467-92228468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574979299	chr13:92228491-92228492	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs199891516	chr13:92228519-92228520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182209090	chr13:92228521-92228522	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565677639	chr13:92228528-92228529	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534637555	chr13:92228551-92228552	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs66501826	chr13:92228572-92228573	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535884813	chr13:92228575-92228576	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs66961242	chr13:92228582-92228583	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs66542681	chr13:92228585-92228586	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs397694099	chr13:92228592-92228593	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535087784	chr13:92228637-92228638	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11841269	chr13:92228641-92228642	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11840290	chr13:92228680-92228681	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs78641538	chr13:92228706-92228707	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs9589299	chr13:92228709-92228710	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531913947	chr13:92228728-92228729	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542871298	chr13:92229668-92229669	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538043204	chr13:92229694-92229695	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529161938	chr13:92229695-92229696	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs77196324	chr13:92229702-92229703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs559848987	chr13:92229705-92229706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs75052202	chr13:92229708-92229709	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs553909302	chr13:92229771-92229772	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528788321	chr13:92229772-92229773	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577256789	chr13:92229796-92229797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539589385	chr13:92229808-92229809	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185864431	chr13:92229858-92229859	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368210056	chr13:92229961-92229962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141855212	chr13:92229966-92229967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542033213	chr13:92229972-92229973	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113766711	chr13:92230023-92230024	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374266831	chr13:92230027-92230028	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs552092851	chr13:92230044-92230045	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540208894	chr13:92230046-92230047	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs61966881	chr13:92230130-92230131	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564003450	chr13:92230132-92230133	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559934038	chr13:92230138-92230139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs143793592	chr13:92230148-92230149	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552256802	chr13:92230236-92230237	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs72641440	chr13:92230241-92230242	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531502677	chr13:92230243-92230244	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190577214	chr13:92230249-92230250	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568325675	chr13:92230261-92230262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533881077	chr13:92230295-92230296	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534281342	chr13:92230367-92230368	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547765257	chr13:92230428-92230429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs140056627	chr13:92230474-92230475	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92230800-92262000	Weak transcription	Right Atrium	heart
2	chr13:92239800-92240200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:92240000-92240600	Enhancers	Colon Smooth Muscle	Colon
4	chr13:92240200-92240600	Enhancers	Brain Anterior Caudate	brain
5	chr13:92244200-92245000	Enhancers	Hela-S3	cervix
6	chr13:92244400-92245000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:92245000-92245200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:92245000-92246400	Weak transcription	Hela-S3	cervix
9	chr13:92245200-92245400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:92246400-92247000	Enhancers	Hela-S3	cervix
11	chr13:92247000-92250200	Weak transcription	Hela-S3	cervix
12	chr13:92250200-92250800	Enhancers	Hela-S3	cervix
13	chr13:92259600-92260600	Enhancers	Hela-S3	cervix
14	chr13:92260600-92260800	Flanking Active TSS	Hela-S3	cervix
15	chr13:92260800-92261200	Enhancers	Hela-S3	cervix
16	chr13:92261200-92261600	Flanking Active TSS	Hela-S3	cervix
17	chr13:92261400-92262000	Enhancers	Ovary	ovary
18	chr13:92261400-92264200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr13:92261600-92261800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:92261600-92262000	Active TSS	Hela-S3	cervix
21	chr13:92261600-92262400	Enhancers	Fetal Lung	lung
22	chr13:92261800-92262000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:92261800-92262400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:92262000-92262400	Flanking Active TSS	Hela-S3	cervix
25	chr13:92262000-92262600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:92262000-92262600	Enhancers	Right Atrium	heart
27	chr13:92262400-92262600	Active TSS	Hela-S3	cervix
28	chr13:92262400-92263000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:92262600-92262800	Active TSS	Right Atrium	heart
30	chr13:92262600-92262800	Flanking Active TSS	Hela-S3	cervix
31	chr13:92262600-92263000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:92262800-92263200	Active TSS	Hela-S3	cervix
33	chr13:92262800-92264000	Weak transcription	Right Atrium	heart
34	chr13:92263200-92263800	Flanking Active TSS	Hela-S3	cervix
35	chr13:92263800-92264400	Enhancers	Hela-S3	cervix
36	chr13:92264000-92264200	Enhancers	Right Atrium	heart
37	chr13:92264400-92273400	Weak transcription	Hela-S3	cervix
38	chr13:92270600-92270800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:92270800-92275600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr13:92272800-92273600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr13:92273400-92275800	Enhancers	Hela-S3	cervix
42	chr13:92273600-92274200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr13:92274200-92274400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr13:92274400-92276000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr13:92274800-92276000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr13:92275400-92276000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr13:92275600-92275800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:92275800-92276000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:92275800-92282000	Weak transcription	Hela-S3	cervix
50	chr13:92282000-92285600	Enhancers	Hela-S3	cervix

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