Variant report

Variant	nsv527990
Chromosome Location	chr5:68448694-68455166
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	CEBPB	chr5:68454858-68455022	A549	lung:	n/a	chr5:68454983-68454996 chr5:68454983-68454996 chr5:68454983-68454996 chr5:68454983-68454994
2	CEBPZ	chr5:68450574-68450582	HepG2	liver:	n/a	n/a
3	CTCF	chr5:68454000-68454150	GM06990	blood:	n/a	n/a
4	CTCF	chr5:68450580-68450730	NHLF	lung:	n/a	n/a
5	FOXA1	chr5:68453944-68454279	T-47D	breast:	n/a	n/a
6	FOXA1	chr5:68453985-68454367	T-47D	breast:	n/a	n/a
7	FOXA2	chr5:68453997-68454185	HepG2	liver:	n/a	n/a
8	POLR2A	chr5:68454000-68454025	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr5:68453342-68453468	K562	blood:	n/a	n/a
10	SPI1	chr5:68448509-68449026	HL-60	blood:	n/a	n/a
11	SPI1	chr5:68448568-68448939	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:68431059..68433417-chr5:68453828..68456749,2	K562	blood:
2	chr5:68450558..68453533-chr5:68461225..68464745,3	K562	blood:
3	chr5:68442716..68444754-chr5:68449777..68451574,2	K562	blood:
4	chr5:68452099..68454629-chr5:68466441..68468788,2	K562	blood:
5	chr5:68452033..68456569-chr5:68461553..68463610,4	K562	blood:
6	chr5:68446696..68449610-chr5:68457555..68460307,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000220986	TF binding region
ENSG00000248664	chromatin interactions
ENSG00000134057	chromatin interactions

Extended variants
information (count: 250 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4976175	chr5:68448694-68448695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6868639	chr5:68448702-68448703	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6887755	chr5:68448718-68448719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187632427	chr5:68448726-68448727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139611286	chr5:68448743-68448744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537079532	chr5:68448814-68448815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565599283	chr5:68448830-68448831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193266792	chr5:68448834-68448835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538977574	chr5:68448871-68448872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551213005	chr5:68448872-68448873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569351891	chr5:68448877-68448878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539436517	chr5:68448886-68448887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142806323	chr5:68448889-68448890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146059365	chr5:68448916-68448917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534259669	chr5:68448962-68448963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559008928	chr5:68448966-68448967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577128644	chr5:68448996-68448997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79244069	chr5:68449017-68449018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371985077	chr5:68449026-68449027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544978841	chr5:68449062-68449063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140000742	chr5:68449109-68449110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575440010	chr5:68449133-68449134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77690585	chr5:68449178-68449179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143707316	chr5:68449206-68449207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60471847	chr5:68449233-68449234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2932767	chr5:68449239-68449240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs567595296	chr5:68449255-68449256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377220105	chr5:68449263-68449264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71622274	chr5:68449267-68449268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369457432	chr5:68449268-68449269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113042289	chr5:68449271-68449272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59378523	chr5:68449283-68449284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113177132	chr5:68449313-68449314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190429244	chr5:68449328-68449329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557443513	chr5:68449342-68449343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553138908	chr5:68449348-68449349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112920205	chr5:68449369-68449370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569572099	chr5:68449410-68449411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577886315	chr5:68449414-68449415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4976176	chr5:68449429-68449430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56911258	chr5:68449468-68449469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181253245	chr5:68449486-68449487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55696804	chr5:68449518-68449519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs200682791	chr5:68449529-68449530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs60029609	chr5:68449557-68449558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs184305339	chr5:68449606-68449607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377509971	chr5:68449613-68449614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570854111	chr5:68449661-68449662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371002433	chr5:68449697-68449698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145813481	chr5:68449793-68449794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68443600-68462000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:68445400-68452200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:68448400-68449200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:68451400-68451800	Enhancers	Placenta	Placenta
5	chr5:68451800-68452800	Weak transcription	Placenta	Placenta
6	chr5:68452800-68453800	Enhancers	Placenta	Placenta
7	chr5:68453800-68462000	Weak transcription	K562	blood

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