Variant report

Variant	nsv969939
Chromosome Location	chr5:104109955-104127669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:104118782-104118821	Medullo	brain:	n/a	n/a
2	EP300	chr5:104123916-104124204	SK-N-SH_RA	brain:	n/a	n/a
3	GATA3	chr5:104125256-104125393	SH-SY5Y	brain:	n/a	n/a
4	GATA3	chr5:104117936-104118133	SH-SY5Y	brain:	n/a	n/a
5	MAFK	chr5:104125567-104125841	HepG2	liver:	n/a	chr5:104125720-104125731 chr5:104125719-104125733 chr5:104125720-104125731 chr5:104125721-104125732 chr5:104125720-104125736
6	MAFK	chr5:104126200-104126358	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr5:104113147-104113279	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr5:104114250-104114376	MCF10A-Er-Src	breast:	n/a	n/a
9	SETDB1	chr5:104120589-104121164	U2OS	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-13	chr5:104118423-104118445	l_2988_chr5:104103131-104137422_testes

Variant related genes	Relation type
RNU6-334P	TF binding region
ENSG00000251574	TF binding region

Extended variants
information (count: 170 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530577546	chr5:104112400-104112401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573397507	chr5:104112432-104112433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114069945	chr5:104112519-104112520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565282209	chr5:104112528-104112529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529394703	chr5:104112565-104112566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575209355	chr5:104112597-104112598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111233972	chr5:104112619-104112620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544341361	chr5:104112660-104112661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375443963	chr5:104112765-104112766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544231447	chr5:104112788-104112789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550508527	chr5:104112827-104112828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144189360	chr5:104112835-104112836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547072575	chr5:104112892-104112893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559242406	chr5:104112895-104112896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367671060	chr5:104112896-104112897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370423322	chr5:104113172-104113173	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs73204451	chr5:104113180-104113181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs374650301	chr5:104113236-104113237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs199966015	chr5:104113245-104113246	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs527943449	chr5:104113249-104113250	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs5870125	chr5:104113259-104113260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs530769445	chr5:104114254-104114255	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs11371527	chr5:104114272-104114273	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs386404616	chr5:104114273-104114274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs375170081	chr5:104114275-104114276	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs368702195	chr5:104114276-104114277	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs112834186	chr5:104114280-104114281	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs544177836	chr5:104114304-104114305	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs561261797	chr5:104114312-104114313	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs555550281	chr5:104114337-104114338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs76404786	chr5:104117963-104117964	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs17157132	chr5:104117986-104117987	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs530925309	chr5:104117987-104117988	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs17157135	chr5:104117995-104117996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs139507454	chr5:104117999-104118000	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs576667784	chr5:104118008-104118009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs10050461	chr5:104118033-104118034	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369218881	chr5:104118109-104118110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs548986192	chr5:104118813-104118814	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs566014430	chr5:104118817-104118818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs559269896	chr5:104120592-104120593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs564953691	chr5:104120600-104120601	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs575446755	chr5:104120609-104120610	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs544185892	chr5:104120620-104120621	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs180724635	chr5:104120648-104120649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs538303270	chr5:104120683-104120684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs565835884	chr5:104120699-104120700	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs57145476	chr5:104120702-104120703	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186116661	chr5:104120739-104120740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs532094436	chr5:104120791-104120792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	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
Myelofibrosis	22110671	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
Obesity	20622171	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104112400-104113000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:104112600-104113000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:104124800-104125400	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr5:104124800-104125400	Enhancers	Rectal Smooth Muscle	rectum
5	chr5:104124800-104125600	Enhancers	Fetal Lung	lung
6	chr5:104124800-104126400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:104126400-104130000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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