Variant report

Variant	nsv1053514
Chromosome Location	chr13:67687520-67775011
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:67686713..67688646-chr13:67690649..67692733,2	K562	blood:
2	chr13:67701562..67704458-chr13:67707651..67710683,4	K562	blood:
3	chr13:67695998..67698789-chr13:67699013..67700576,2	K562	blood:
4	chr13:67674917..67677595-chr13:67687583..67689856,3	K562	blood:
5	chr13:67687472..67689479-chr13:67704392..67705946,2	K562	blood:
6	chr13:67722123..67726078-chr13:67726248..67727777,3	K562	blood:
7	chr13:67698083..67700641-chr13:67703157..67705033,2	K562	blood:
8	chr13:67702842..67705667-chr13:67707651..67711312,4	K562	blood:
9	chr13:67685964..67690654-chr13:67706296..67711657,6	K562	blood:
10	chr13:67698083..67700641-chr13:67703157..67705033,2	K562	blood:
11	chr13:67753265..67756119-chr13:67757714..67759510,2	K562	blood:
12	chr13:67660306..67662402-chr13:67696166..67698306,2	K562	blood:
13	chr13:67756177..67758762-chr13:67758795..67761086,2	K562	blood:
14	chr13:67724263..67726826-chr13:67734367..67736534,2	K562	blood:
15	chr13:67695998..67698789-chr13:67699013..67700576,2	K562	blood:
16	chr13:67710572..67712224-chr13:67713182..67714868,2	K562	blood:
17	chr13:67753265..67756119-chr13:67757714..67759510,2	K562	blood:
18	chr13:67756177..67758762-chr13:67758795..67761086,2	K562	blood:
19	chr13:67723500..67726078-chr13:67726248..67727751,2	K562	blood:
20	chr13:67686713..67688646-chr13:67690649..67692733,2	K562	blood:
21	chr13:67701562..67704458-chr13:67707651..67710683,4	K562	blood:
22	chr13:67767771..67770676-chr13:67771457..67773898,2	K562	blood:
23	chr13:67767771..67770676-chr13:67771457..67773898,2	K562	blood:
24	chr13:67723500..67726078-chr13:67726248..67727751,2	K562	blood:
25	chr13:67724263..67726826-chr13:67734367..67736534,2	K562	blood:
26	chr13:67686150..67689268-chr13:67693283..67697595,5	K562	blood:
27	chr13:67644544..67646111-chr13:67718055..67719973,2	K562	blood:
28	chr13:67681587..67685897-chr13:67688405..67692463,6	K562	blood:
29	chr13:67686001..67691093-chr13:67707345..67712221,5	K562	blood:
30	chr13:67710572..67712224-chr13:67713182..67714868,2	K562	blood:
31	chr13:67687472..67689479-chr13:67704392..67705946,2	K562	blood:
32	chr13:67686001..67691093-chr13:67707345..67712221,5	K562	blood:
33	chr13:67722123..67726078-chr13:67726248..67727777,3	K562	blood:
34	chr13:67686150..67689268-chr13:67693283..67697595,5	K562	blood:
35	chr13:67702842..67705667-chr13:67707651..67711312,4	K562	blood:
36	chr13:67685964..67690654-chr13:67706296..67711657,6	K562	blood:

No data

Extended variants
information (count: 3097 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:3097 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531077204	chr13:67687542-67687543	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs373798401	chr13:67687586-67687587	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs376970886	chr13:67687600-67687601	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567937884	chr13:67687608-67687609	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs536296279	chr13:67687611-67687612	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs570879664	chr13:67687624-67687625	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs192178786	chr13:67687659-67687660	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7327414	chr13:67687684-67687685	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538762696	chr13:67687687-67687688	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs144794694	chr13:67687699-67687700	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs7327691	chr13:67687708-67687709	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7328007	chr13:67687719-67687720	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557015191	chr13:67687727-67687728	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs573878911	chr13:67687743-67687744	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs535533265	chr13:67687779-67687780	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs542288360	chr13:67687825-67687826	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs183341171	chr13:67687829-67687830	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs187316465	chr13:67687848-67687849	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs545126379	chr13:67687869-67687870	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs564929937	chr13:67687914-67687915	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs190613982	chr13:67687949-67687950	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs553957466	chr13:67687970-67687971	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs151126335	chr13:67687992-67687993	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs561450097	chr13:67687996-67687997	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs551995914	chr13:67688013-67688014	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs140289878	chr13:67688044-67688045	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs546943222	chr13:67688081-67688082	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566549080	chr13:67688118-67688119	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs377527618	chr13:67688282-67688283	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs1927825	chr13:67688298-67688299	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552263547	chr13:67688380-67688381	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs182516684	chr13:67688399-67688400	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs187166636	chr13:67688401-67688402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536895626	chr13:67688415-67688416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557098925	chr13:67688447-67688448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567485286	chr13:67688459-67688460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144252847	chr13:67688522-67688523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192712068	chr13:67688570-67688571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147785027	chr13:67688586-67688587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546112806	chr13:67688593-67688594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113356995	chr13:67688746-67688747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573454767	chr13:67688881-67688882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182702663	chr13:67688883-67688884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576461205	chr13:67688918-67688919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575388031	chr13:67688950-67688951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537285856	chr13:67688971-67688972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374332473	chr13:67688974-67688975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549607114	chr13:67689001-67689002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561547009	chr13:67689044-67689045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530204519	chr13:67689108-67689109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:896 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67682400-67687600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:67682400-67688000	Weak transcription	Brain Substantia Nigra	brain
3	chr13:67682400-67688200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr13:67682400-67688200	Weak transcription	A549	lung
5	chr13:67683600-67692000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:67686400-67688400	Active TSS	K562	blood
7	chr13:67688000-67691600	Enhancers	Brain Angular Gyrus	brain
8	chr13:67688000-67693400	Enhancers	Brain Substantia Nigra	brain
9	chr13:67688200-67689600	Enhancers	Brain Cingulate Gyrus	brain
10	chr13:67688200-67690000	Enhancers	A549	lung
11	chr13:67688400-67695000	Weak transcription	K562	blood
12	chr13:67688600-67689600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr13:67688800-67689600	Enhancers	Brain Anterior Caudate	brain
14	chr13:67688800-67693400	Enhancers	Brain Hippocampus Middle	brain
15	chr13:67689400-67689600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:67689400-67689600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr13:67689400-67690000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr13:67689600-67690600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:67689600-67690600	Weak transcription	Brain Anterior Caudate	brain
20	chr13:67689600-67690600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr13:67689600-67690800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr13:67689600-67701400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr13:67690000-67690400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr13:67690000-67690400	Weak transcription	A549	lung
25	chr13:67690400-67692000	Enhancers	A549	lung
26	chr13:67690400-67694000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr13:67690600-67691200	Enhancers	Brain Anterior Caudate	brain
28	chr13:67690600-67691600	Enhancers	Brain Cingulate Gyrus	brain
29	chr13:67690600-67692800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:67690800-67691200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr13:67690800-67691600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr13:67690800-67692000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:67690800-67692200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:67691200-67691600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr13:67691200-67692400	Weak transcription	Brain Anterior Caudate	brain
36	chr13:67691400-67691600	Enhancers	Fetal Brain Female	brain
37	chr13:67691600-67691800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr13:67691600-67692000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr13:67691600-67692200	Weak transcription	Brain Angular Gyrus	brain
40	chr13:67691600-67692200	Weak transcription	Fetal Brain Female	brain
41	chr13:67691600-67693600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr13:67691800-67692600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr13:67692000-67693400	Flanking Active TSS	A549	lung
44	chr13:67692000-67694000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr13:67692000-67694600	Enhancers	Brain Cingulate Gyrus	brain
46	chr13:67692200-67693000	Enhancers	Fetal Brain Female	brain
47	chr13:67692200-67693400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:67692200-67694400	Enhancers	Hela-S3	cervix
49	chr13:67692200-67694800	Enhancers	Brain Angular Gyrus	brain
50	chr13:67692400-67693200	Enhancers	Brain Anterior Caudate	brain

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