Variant report

Variant	nsv430581
Chromosome Location	chr13:67572850-67762288
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:66)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:67659257..67661234-chr13:67663464..67666434,2	MCF-7	breast:
2	chr13:67542691..67545017-chr13:67591674..67594006,2	K562	blood:
3	chr13:67674917..67677595-chr13:67687583..67689856,3	K562	blood:
4	chr13:67685964..67690654-chr13:67706296..67711657,6	K562	blood:
5	chr13:67722123..67726078-chr13:67726248..67727777,3	K562	blood:
6	chr13:67723500..67726078-chr13:67726248..67727751,2	K562	blood:
7	chr13:67695998..67698789-chr13:67699013..67700576,2	K562	blood:
8	chr13:67611738..67614216-chr13:67615781..67617900,2	K562	blood:
9	chr13:67644343..67646660-chr13:67649224..67651999,2	K562	blood:
10	chr13:67673168..67676018-chr13:67680338..67682100,2	K562	blood:
11	chr13:67756177..67758762-chr13:67758795..67761086,2	K562	blood:
12	chr13:67579094..67581367-chr13:67581814..67584582,2	K562	blood:
13	chr13:67686001..67691093-chr13:67707345..67712221,5	K562	blood:
14	chr13:67620328..67623105-chr13:67624007..67626325,2	K562	blood:
15	chr13:67611732..67614272-chr13:67618867..67621097,2	K562	blood:
16	chr13:67644544..67646111-chr13:67718055..67719973,2	K562	blood:
17	chr13:67644343..67646660-chr13:67649224..67651999,2	K562	blood:
18	chr13:67660306..67662402-chr13:67696166..67698306,2	K562	blood:
19	chr13:67701562..67704458-chr13:67707651..67710683,4	K562	blood:
20	chr13:67611732..67614272-chr13:67618867..67621097,2	K562	blood:
21	chr13:67641629..67645149-chr13:67647169..67649102,3	K562	blood:
22	chr13:67722123..67726078-chr13:67726248..67727777,3	K562	blood:
23	chr13:67686001..67691093-chr13:67707345..67712221,5	K562	blood:
24	chr13:67685964..67690654-chr13:67706296..67711657,6	K562	blood:
25	chr13:67724263..67726826-chr13:67734367..67736534,2	K562	blood:
26	chr13:67674917..67677595-chr13:67687583..67689856,3	K562	blood:
27	chr13:67686713..67688646-chr13:67690649..67692733,2	K562	blood:
28	chr13:67673168..67676018-chr13:67680338..67682100,2	K562	blood:
29	chr13:67611738..67614216-chr13:67615781..67617900,2	K562	blood:
30	chr13:67686713..67688646-chr13:67690649..67692733,2	K562	blood:
31	chr13:67641629..67645149-chr13:67647169..67649102,3	K562	blood:
32	chr13:67681587..67685897-chr13:67688405..67692463,6	K562	blood:
33	chr13:67584111..67586911-chr13:67593760..67595933,2	K562	blood:
34	chr13:67649311..67650094-chr13:67990535..67991084,2	MCF-7	breast:
35	chr13:67753265..67756119-chr13:67757714..67759510,2	K562	blood:
36	chr13:67675315..67677350-chr13:67683836..67685961,2	K562	blood:
37	chr13:67687472..67689479-chr13:67704392..67705946,2	K562	blood:
38	chr13:67724263..67726826-chr13:67734367..67736534,2	K562	blood:
39	chr13:67686150..67689268-chr13:67693283..67697595,5	K562	blood:
40	chr13:67618768..67621421-chr13:67666837..67668518,2	K562	blood:
41	chr13:67624230..67626098-chr13:67628048..67629694,2	K562	blood:
42	chr13:67702842..67705667-chr13:67707651..67711312,4	K562	blood:
43	chr13:67610771..67613638-chr13:67632502..67635346,2	K562	blood:
44	chr13:67686150..67689268-chr13:67693283..67697595,5	K562	blood:
45	chr13:67723500..67726078-chr13:67726248..67727751,2	K562	blood:
46	chr13:67579094..67581367-chr13:67581814..67584582,2	K562	blood:
47	chr13:67644544..67646111-chr13:67718055..67719973,2	K562	blood:
48	chr13:67610771..67613638-chr13:67632502..67635346,2	K562	blood:
49	chr13:67618768..67621421-chr13:67666837..67668518,2	K562	blood:
50	chr13:67698083..67700641-chr13:67703157..67705033,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-16	chr13:67575978-67576132	NR_046637
2	lnc-AL445989.1-16	chr13:67575978-67576139	ENSG00000233840.1
3	lnc-KLHL1-10	chr13:67656645-67658943	NONHSAT034217

No data

Extended variants
information (count: 6566 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:6566 , 50 per page) page: 1 2 3 4 5 6 7 ... 132

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7324298	chr13:67572850-67572851	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539305291	chr13:67572863-67572864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563405010	chr13:67572872-67572873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555754476	chr13:67572891-67572892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569280958	chr13:67572895-67572896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535407843	chr13:67572899-67572900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530498285	chr13:67572908-67572909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112416746	chr13:67572923-67572924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555205045	chr13:67572965-67572966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572097910	chr13:67572983-67572984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534953264	chr13:67573010-67573011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368833790	chr13:67573011-67573012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578252710	chr13:67573027-67573028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544096933	chr13:67573038-67573039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549206709	chr13:67573042-67573043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563696810	chr13:67573049-67573050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80284325	chr13:67573108-67573109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542995570	chr13:67573157-67573158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140560237	chr13:67573193-67573194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528536913	chr13:67573207-67573208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149325875	chr13:67573216-67573217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187936986	chr13:67573254-67573255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58842129	chr13:67573271-67573272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs111896430	chr13:67573278-67573279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs207473951	chr13:67573290-67573291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190062757	chr13:67573338-67573339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144211016	chr13:67573416-67573417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569599004	chr13:67573443-67573444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535146169	chr13:67573471-67573472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548960977	chr13:67573502-67573503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565641942	chr13:67573506-67573507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534675938	chr13:67573519-67573520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558401063	chr13:67573522-67573523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4142273	chr13:67573532-67573533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537622976	chr13:67573568-67573569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528248773	chr13:67573618-67573619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557724066	chr13:67573784-67573785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574269913	chr13:67573813-67573814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542656790	chr13:67573857-67573858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559657241	chr13:67574056-67574057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573270008	chr13:67574077-67574078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9540964	chr13:67574208-67574209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs545070658	chr13:67574330-67574331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376837431	chr13:67574344-67574345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142292375	chr13:67574357-67574358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9529162	chr13:67574376-67574377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182756633	chr13:67574423-67574424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563289790	chr13:67574466-67574467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373785351	chr13:67574469-67574470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529140171	chr13:67574477-67574478	Weak transcription	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:1662 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67569600-67573000	Enhancers	Primary B cells from peripheral blood	blood
2	chr13:67569800-67575600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr13:67569800-67575800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr13:67569800-67588200	Weak transcription	Brain Angular Gyrus	brain
5	chr13:67571400-67575000	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:67571600-67575000	Weak transcription	Brain Anterior Caudate	brain
7	chr13:67571600-67575600	Weak transcription	Brain Substantia Nigra	brain
8	chr13:67571600-67575600	Weak transcription	Gastric	stomach
9	chr13:67572400-67575400	Weak transcription	A549	lung
10	chr13:67572800-67573000	Enhancers	Brain Cingulate Gyrus	brain
11	chr13:67572800-67573000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:67575000-67575600	Enhancers	Brain Anterior Caudate	brain
13	chr13:67575000-67575800	Enhancers	Brain Hippocampus Middle	brain
14	chr13:67575400-67576000	Enhancers	A549	lung
15	chr13:67575600-67575800	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr13:67575600-67576000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr13:67575600-67576000	Enhancers	Brain Substantia Nigra	brain
18	chr13:67575600-67576000	Enhancers	Gastric	stomach
19	chr13:67575800-67576200	Active TSS	Brain Anterior Caudate	brain
20	chr13:67575800-67576200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr13:67576000-67577200	Weak transcription	A549	lung
22	chr13:67576000-67583600	Weak transcription	Brain Substantia Nigra	brain
23	chr13:67577200-67577400	Enhancers	A549	lung
24	chr13:67582800-67585200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr13:67583000-67583600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr13:67583400-67584800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:67583400-67585200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr13:67583600-67583800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:67583600-67583800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr13:67583600-67585200	Enhancers	Brain Substantia Nigra	brain
31	chr13:67583600-67585400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr13:67583600-67585600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr13:67583800-67585000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr13:67584400-67584600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr13:67584400-67584600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr13:67584400-67584800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr13:67585200-67586000	Enhancers	A549	lung
38	chr13:67585200-67590800	Weak transcription	Brain Substantia Nigra	brain
39	chr13:67585600-67585800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr13:67586000-67586200	Enhancers	Brain Cingulate Gyrus	brain
41	chr13:67586200-67590600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr13:67586800-67587000	Enhancers	Brain Hippocampus Middle	brain
43	chr13:67587000-67587600	Weak transcription	Brain Hippocampus Middle	brain
44	chr13:67587600-67588200	Enhancers	Brain Hippocampus Middle	brain
45	chr13:67588200-67588800	Enhancers	Brain Angular Gyrus	brain
46	chr13:67588200-67590800	Weak transcription	Brain Hippocampus Middle	brain
47	chr13:67588800-67589200	Weak transcription	Brain Angular Gyrus	brain
48	chr13:67589200-67589400	Enhancers	Brain Angular Gyrus	brain
49	chr13:67589400-67594200	Weak transcription	Brain Angular Gyrus	brain
50	chr13:67590600-67591600	Enhancers	Brain Cingulate Gyrus	brain

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