Variant report

Variant	nsv968230
Chromosome Location	chr5:106530132-106531404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:106530677-106530761	GM20000	blood:	n/a	n/a
2	POLR2A	chr5:106530573-106530962	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr5:106530823-106530979	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:106530523-106530804	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:106530218-106530268	AG09319	gingival:	n/a
2	chr5:106530218-106530268	HPAEpiC	pulmonary alveolar:	n/a
3	chr5:106530218-106530268	K562	blood:	n/a
4	chr5:106530218-106530268	T-47D	breast:	n/a
5	chr5:106530218-106530268	ProgFib	skin:	n/a
6	chr5:106530218-106530268	SKMC	muscle:	n/a
7	chr5:106530218-106530268	BJ	skin:	n/a
8	chr5:106530218-106530268	HRE	kidney:	n/a
9	chr5:106530218-106530268	NHDF-neo	bronchial:	n/a
10	chr5:106530218-106530268	MCF-7	breast:	n/a
11	chr5:106530218-106530268	ovcar-3	ovarian:	n/a
12	chr5:106530218-106530268	HCT-116	colon:	n/a
13	chr5:106530218-106530268	H1-hESC	embryonic stem cell:	embryo
14	chr5:106530218-106530268	AoSMC	blood vessel:	n/a
15	chr5:106530218-106530268	HNPCEpiC	eye:	n/a
16	chr5:106530218-106530268	A549	lung:	n/a
17	chr5:106530218-106530268	HEEpiC	esophagus:	n/a
18	chr5:106530218-106530268	GM19239	blood:	n/a
19	chr5:106530218-106530268	NB4	blood:	n/a
20	chr5:106530218-106530268	HRCEpiC	kidney:	n/a
21	chr5:106530218-106530268	AG04449	skin:	fetal
22	chr5:106530218-106530268	LNCaP	prostate:	n/a
23	chr5:106530218-106530268	IMR90	lung:	fetal
24	chr5:106530218-106530268	NH-A	brain:	n/a
25	chr5:106530218-106530268	SK-N-SH_RA	brain:	n/a
26	chr5:106530218-106530268	HMEC	breast:	n/a
27	chr5:106530218-106530268	HIPEpiC	eye:	n/a
28	chr5:106530218-106530268	ECC-1	luminal epithelium:	n/a
29	chr5:106530218-106530268	HCPEpiC	choroid plexus:	n/a
30	chr5:106530218-106530268	SK-N-MC	brain:	n/a
31	chr5:106530218-106530268	AG09309	skin:	n/a
32	chr5:106530218-106530268	HAEpiC	amniotic membrane:	n/a
33	chr5:106530218-106530268	GM12891	blood:	n/a
34	chr5:106530218-106530268	PANC-1	pancreas:	n/a
35	chr5:106530218-106530268	GM12878	blood:	n/a
36	chr5:106530218-106530268	PrEC	prostate:	n/a
37	chr5:106530218-106530268	HEK293	kidney:	embryo
38	chr5:106530218-106530268	CMK	blood:	n/a
39	chr5:106530218-106530268	MCF10A-Er-Src	breast:	n/a
40	chr5:106530218-106530268	RPTEC	kidney:	n/a
41	chr5:106530218-106530268	NHBE	bronchial:	n/a
42	chr5:106530218-106530268	AG04450	lung:	fetal
43	chr5:106530218-106530268	HL-60	blood:	n/a
44	chr5:106530218-106530268	Caco-2	colon:	n/a
45	chr5:106530218-106530268	BE2_C	brain:	n/a
46	chr5:106530218-106530268	NT2-D1	testis:	n/a
47	chr5:106530218-106530268	Jurkat	blood:	n/a
48	chr5:106530218-106530268	AG10803	skin:	n/a
49	chr5:106530218-106530268	GM06990	blood:	n/a
50	chr5:106530218-106530268	SK-N-SH	brain:	n/a

No data

Variant related genes	Relation type
PSMC1P5	TF binding region
PSMC1P5	CpG island

Extended variants
information (count: 48 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572923005	chr5:106530161-106530162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17386596	chr5:106530162-106530163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557960004	chr5:106530189-106530190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570394981	chr5:106530196-106530197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1422202	chr5:106530219-106530220	Weak transcription Enhancers	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552357365	chr5:106530389-106530390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548507830	chr5:106530408-106530409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373351235	chr5:106530415-106530416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563374845	chr5:106530436-106530437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529263465	chr5:106530440-106530441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191200731	chr5:106530476-106530477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559995216	chr5:106530482-106530483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375056074	chr5:106530548-106530549	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs533200770	chr5:106530568-106530569	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs574806915	chr5:106530570-106530571	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs70996946	chr5:106530572-106530573	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs182569081	chr5:106530588-106530589	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs4099140	chr5:106530600-106530601	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs564971769	chr5:106530601-106530602	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs138080754	chr5:106530672-106530673	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs4087770	chr5:106530678-106530679	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs111465652	chr5:106530684-106530685	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs35999116	chr5:106530694-106530695	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs567237160	chr5:106530734-106530735	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs113265740	chr5:106530736-106530737	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs536267291	chr5:106530746-106530747	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs546536649	chr5:106530761-106530762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs566798149	chr5:106530850-106530851	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs538452159	chr5:106530859-106530860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558743270	chr5:106530863-106530864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577698760	chr5:106530864-106530865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12332507	chr5:106530894-106530895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139515753	chr5:106530895-106530896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573648958	chr5:106530896-106530897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149255679	chr5:106530919-106530920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188384635	chr5:106531000-106531001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192660848	chr5:106531034-106531035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557562851	chr5:106531041-106531042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545251752	chr5:106531060-106531061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144433908	chr5:106531075-106531076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531144773	chr5:106531080-106531081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112362258	chr5:106531085-106531086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182943322	chr5:106531111-106531112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2161234	chr5:106531124-106531125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs546620854	chr5:106531138-106531139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534178140	chr5:106531167-106531168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566631632	chr5:106531175-106531176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202144044	chr5:106531176-106531177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106528800-106531200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:106530200-106530400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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