Variant report

Variant	nsv1040357
Chromosome Location	chr13:90900628-90945966
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:90883097..90884825-chr13:90899130..90901723,2	K562	blood:
2	chr13:90903953..90906815-chr13:90913754..90915994,2	K562	blood:
3	chr13:90903953..90906815-chr13:90913754..90915994,2	K562	blood:
4	chr13:90347808..90348492-chr13:90905964..90906495,2	MCF-7	breast:
5	chr13:90928129..90929785-chr13:90931330..90933732,2	K562	blood:
6	chr13:90923138..90926248-chr13:90926720..90929248,3	K562	blood:
7	chr13:90928129..90929785-chr13:90931330..90933732,2	K562	blood:
8	chr13:90923138..90926248-chr13:90926720..90929248,3	K562	blood:
9	chr13:90945051..90947501-chr13:90980596..90983206,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC5-8	chr13:90943495-90943667	NONHSAT034648
2	lnc-GPC5-8	chr13:90942129-90942263	NONHSAT034648

No data

Variant related genes	Relation type
ENSG00000207858	chromatin interactions

Extended variants
information (count: 1066 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1066 , 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	rs4773564	chr13:90900628-90900629	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576930097	chr13:90900650-90900651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546143374	chr13:90900657-90900658	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs9560585	chr13:90900660-90900661	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9560586	chr13:90900661-90900662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529935125	chr13:90900772-90900773	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs66887474	chr13:90900787-90900788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566663498	chr13:90900847-90900848	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs78947883	chr13:90900849-90900850	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs16944255	chr13:90900914-90900915	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs5805634	chr13:90900947-90900948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs74102271	chr13:90900954-90900955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537416173	chr13:90900966-90900967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs67922845	chr13:90901001-90901002	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574150082	chr13:90901012-90901013	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542825485	chr13:90901014-90901015	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368278671	chr13:90901042-90901043	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs16944259	chr13:90901053-90901054	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181817529	chr13:90901064-90901065	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540896767	chr13:90901144-90901145	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs76090716	chr13:90901150-90901151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532565945	chr13:90901164-90901165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527794431	chr13:90901183-90901184	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544587702	chr13:90901194-90901195	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35769735	chr13:90901195-90901196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4127874	chr13:90901239-90901240	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530176786	chr13:90901260-90901261	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548132599	chr13:90901264-90901265	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs9560587	chr13:90901275-90901276	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs9522889	chr13:90901280-90901281	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552462758	chr13:90901295-90901296	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570386573	chr13:90901319-90901320	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9560588	chr13:90901334-90901335	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549328397	chr13:90901335-90901336	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567858474	chr13:90901365-90901366	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368995811	chr13:90901368-90901369	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150476759	chr13:90901402-90901403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs569677368	chr13:90901410-90901411	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200562855	chr13:90901426-90901427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559312634	chr13:90901450-90901451	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs11069959	chr13:90901455-90901456	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs186011697	chr13:90901464-90901465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145485136	chr13:90901477-90901478	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs575014188	chr13:90901484-90901485	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536156005	chr13:90901547-90901548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs144480447	chr13:90901548-90901549	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs75057576	chr13:90901558-90901559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373851351	chr13:90901561-90901562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560350426	chr13:90901565-90901566	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs527505158	chr13:90901570-90901571	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Non-syndromic sensorineural hearing loss	18496225	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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90907800-90908200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr13:90907800-90908400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr13:90907800-90908400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr13:90910400-90910800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:90910400-90911600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:90910800-90911000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:90911000-90911400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:90911400-90912600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:90911600-90913400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:90912600-90912800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:90913400-90914200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:90920200-90920800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:90922800-90923400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:90923200-90923400	Enhancers	NH-A	brain
15	chr13:90923400-90924400	Weak transcription	NH-A	brain
16	chr13:90924400-90925000	Enhancers	HSMMtube	muscle
17	chr13:90924400-90925000	Enhancers	NH-A	brain
18	chr13:90924800-90925400	Enhancers	HMEC	breast
19	chr13:90928000-90928600	Enhancers	Fetal Heart	heart
20	chr13:90928000-90929000	Enhancers	Aorta	Aorta
21	chr13:90928600-90929000	Flanking Active TSS	Fetal Heart	heart
22	chr13:90929000-90929800	Enhancers	Fetal Heart	heart
23	chr13:90929800-90930200	Weak transcription	Fetal Heart	heart
24	chr13:90930200-90930400	Enhancers	Fetal Heart	heart
25	chr13:90930400-90933600	Weak transcription	Fetal Heart	heart
26	chr13:90933600-90934200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:90933600-90934200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:90933600-90936400	Enhancers	Fetal Heart	heart
29	chr13:90934000-90934200	Enhancers	Right Atrium	heart
30	chr13:90934200-90951800	Weak transcription	Right Atrium	heart

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