Variant report

Variant	nsv967076
Chromosome Location	chr3:146986109-146995619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:146994304-146994311	GM13976	blood:	n/a	n/a
2	CTCF	chr3:146987820-146987970	GM12864	blood:	n/a	n/a
3	CTCF	chr3:146987860-146988010	GM12875	blood:	n/a	n/a
4	CTCF	chr3:146988579-146988601	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr3:146987820-146987970	GM12873	blood:	n/a	n/a
6	CTCF	chr3:146987800-146987950	GM12872	blood:	n/a	n/a
7	CTCF	chr3:146987780-146987930	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr3:146987820-146987970	MCF-7	breast:	n/a	n/a
9	CTCF	chr3:146987880-146988030	MCF-7	breast:	n/a	n/a
10	CTCF	chr3:146987841-146987976	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr3:146987778-146987981	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr3:146987780-146987930	GM12871	blood:	n/a	n/a
13	CTCF	chr3:146987900-146988050	GM12865	blood:	n/a	n/a
14	CTCF	chr3:146987920-146988070	GM12869	blood:	n/a	n/a
15	MYC	chr3:146986870-146986983	MCF-7	breast:	n/a	n/a
16	POLR2A	chr3:146990620-146990750	MCF10A-Er-Src	breast:	n/a	n/a
17	RAD21	chr3:146987718-146987984	H1-hESC	embryonic stem cell:	n/a	n/a
18	STAT3	chr3:146988126-146988170	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZIC1-7	chr3:146994801-146995039	NONHSAT092574
2	lnc-ZIC1-7	chr3:146994555-146994774	NONHSAT092574

No data

Variant related genes	Relation type
RPL21P71	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115957270	chr3:146990632-146990633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs547435557	chr3:146990639-146990640	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs9854570	chr3:146990672-146990673	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539913312	chr3:146990685-146990686	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs2318778	chr3:146990692-146990693	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs367612041	chr3:146990696-146990697	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs9816787	chr3:146990730-146990731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs375591688	chr3:146990745-146990746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs141275576	chr3:146990746-146990747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs112716548	chr3:146994556-146994557	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs542663248	chr3:146994558-146994559	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs116910632	chr3:146994560-146994561	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs566402594	chr3:146994567-146994568	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs573021717	chr3:146994602-146994603	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs545132396	chr3:146994627-146994628	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs373682697	chr3:146994651-146994652	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs531057704	chr3:146994662-146994663	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs544746542	chr3:146994689-146994690	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs151270651	chr3:146994715-146994716	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs77063902	chr3:146994732-146994733	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs80115753	chr3:146994755-146994756	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs559325379	chr3:146994766-146994767	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs551540477	chr3:146994810-146994811	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs149982831	chr3:146994862-146994863	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs537244605	chr3:146994863-146994864	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs145196553	chr3:146994868-146994869	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs544794868	chr3:146994955-146994956	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs567464808	chr3:146994973-146994974	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs536518300	chr3:146995024-146995025	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs552976727	chr3:146995039-146995040	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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