Variant report

Variant	nsv965573
Chromosome Location	chr5:118891291-118904467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:118902301-118902324	GM20000	blood:	n/a	n/a
2	E2F6	chr5:118898145-118898637	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOXA1	chr5:118900123-118900342	T-47D	breast:	n/a	chr5:118900270-118900285
4	FOXA1	chr5:118900048-118900366	HepG2	liver:	n/a	chr5:118900270-118900285
5	FOXA1	chr5:118900029-118900468	HepG2	liver:	n/a	chr5:118900270-118900285
6	GATA3	chr5:118899986-118900873	MCF-7	breast:	n/a	n/a
7	NFIC	chr5:118902241-118902590	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr5:118891517-118891531	A549	lung:	n/a	n/a
9	POLR2A	chr5:118901237-118901312	MCF-7	breast:	n/a	n/a
10	POLR2A	chr5:118891414-118891482	A549	lung:	n/a	n/a
11	POLR2A	chr5:118892477-118892524	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr5:118891493-118891516	A549	lung:	n/a	n/a
13	SPI1	chr5:118896175-118896385	GM12878	blood:	n/a	n/a
14	SPI1	chr5:118896168-118896338	K562	blood:	n/a	n/a
15	STAT3	chr5:118899195-118899358	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr5:118901328-118901349	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:118894936..118898702-chr5:118910373..118913198,3	K562	blood:
2	chr5:118891974..118894099-chr5:118898157..118900146,2	K562	blood:
3	chr5:118891974..118894099-chr5:118898157..118900146,2	K562	blood:
4	chr5:118894367..118897199-chr5:119080311..119081964,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-11	chr5:118890945-118891353	NONHSAT103440

No data

Variant related genes	Relation type
FABP5P6	TF binding region

Extended variants
information (count: 330 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551329087	chr5:118891298-118891299	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs116715932	chr5:118891301-118891302	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs191756410	chr5:118891355-118891356	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531264403	chr5:118891365-118891366	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554119706	chr5:118891385-118891386	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199573524	chr5:118891478-118891479	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs563450946	chr5:118891499-118891500	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs567239246	chr5:118891506-118891507	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs535893854	chr5:118891538-118891539	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs538260919	chr5:118891557-118891558	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs576093908	chr5:118891588-118891589	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144524114	chr5:118891594-118891595	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs114469253	chr5:118891640-118891641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577824158	chr5:118891673-118891674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs246966	chr5:118891682-118891683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs183842034	chr5:118891683-118891684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146538494	chr5:118891708-118891709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186671528	chr5:118891718-118891719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141195144	chr5:118891720-118891721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531760006	chr5:118891798-118891799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551857215	chr5:118891802-118891803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571428362	chr5:118891868-118891869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527501469	chr5:118891891-118891892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2636971	chr5:118891908-118891909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567597746	chr5:118891909-118891910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191470286	chr5:118891919-118891920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549555622	chr5:118891925-118891926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548874687	chr5:118891950-118891951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538313093	chr5:118892028-118892029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183596301	chr5:118892034-118892035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186997104	chr5:118892134-118892135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190523589	chr5:118892197-118892198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568801040	chr5:118892201-118892202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534378228	chr5:118892204-118892205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554028653	chr5:118892258-118892259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72790217	chr5:118892275-118892276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150203921	chr5:118892350-118892351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562694582	chr5:118892365-118892366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368316662	chr5:118892380-118892381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576395538	chr5:118892427-118892428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73236767	chr5:118892453-118892454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374524641	chr5:118892461-118892462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367947942	chr5:118892465-118892466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145760655	chr5:118892505-118892506	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs2561489	chr5:118892510-118892511	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs115419057	chr5:118892511-118892512	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs529898615	chr5:118892538-118892539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193232455	chr5:118892585-118892586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148955918	chr5:118892613-118892614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569515360	chr5:118892628-118892629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118879200-118892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:118890600-118896200	Weak transcription	Brain Angular Gyrus	brain
3	chr5:118891200-118891400	Strong transcription	Pancreas	Pancrea
4	chr5:118891200-118891600	Enhancers	Brain Anterior Caudate	brain
5	chr5:118891400-118891600	ZNF genes & repeats	Pancreas	Pancrea
6	chr5:118891600-118891800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:118891600-118899800	Weak transcription	Pancreas	Pancrea
8	chr5:118899800-118900000	Enhancers	Pancreas	Pancrea

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