Variant report

Variant	nsv511286
Chromosome Location	chr5:50231548-50254200
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	chr5:50252450-50252674	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:50246138-50246382	HepG2	liver:	n/a	n/a
3	CTCF	chr5:50246680-50246704	Lung_OC	lung:	n/a	n/a
4	CTCF	chr5:50254160-50254310	AG10803	skin:	n/a	n/a
5	CTCF	chr5:50253540-50253690	BE2_C	brain:	n/a	n/a
6	E2F4	chr5:50251813-50251928	MCF10A-Er-Src	breast:	n/a	n/a
7	JUN	chr5:50247050-50247087	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUND	chr5:50246174-50246364	HepG2	liver:	n/a	n/a
9	JUND	chr5:50232314-50232526	HepG2	liver:	n/a	n/a
10	KAP1	chr5:50243727-50244161	HEK293	kidney:	n/a	n/a
11	KAP1	chr5:50241014-50241289	HEK293	kidney:	n/a	n/a
12	MAFK	chr5:50244326-50244610	K562	blood:	n/a	n/a
13	MAFK	chr5:50247822-50247888	HepG2	liver:	n/a	chr5:50247865-50247885
14	NFIC	chr5:50243585-50244253	ECC-1	luminal epithelium:	n/a	chr5:50243929-50243945 chr5:50243928-50243945 chr5:50243917-50243945
15	NFIC	chr5:50243618-50244238	ECC-1	luminal epithelium:	n/a	chr5:50243929-50243945 chr5:50243928-50243945 chr5:50243917-50243945
16	NFIC	chr5:50243733-50244078	SK-N-SH	brain:	n/a	chr5:50243929-50243945 chr5:50243928-50243945 chr5:50243917-50243945
17	POLR2A	chr5:50232414-50232619	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:50251261-50251679	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr5:50248186-50248493	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr5:50253564-50253674	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr5:50233143-50233172	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr5:50246295-50246428	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr5:50244713-50244887	MCF10A-Er-Src	breast:	n/a	n/a
24	ZNF143	chr5:50241015-50241174	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:50254119..50256881-chr5:50262560..50265438,2	MCF-7	breast:
2	chr5:50247727..50250567-chr5:50250706..50253362,2	MCF-7	breast:
3	chr5:50228151..50230751-chr5:50231157..50233024,2	K562	blood:
4	chr5:50233489..50235241-chr5:50248596..50251574,2	K562	blood:
5	chr12:99592032..99592637-chr5:50232515..50233131,2	MCF-7	breast:
6	chr5:50252384..50255461-chr5:50257528..50260468,3	K562	blood:
7	chr5:50233489..50235241-chr5:50248596..50251574,2	K562	blood:
8	chr5:50250054..50253595-chr5:50255178..50258744,3	K562	blood:
9	chr5:50247727..50250567-chr5:50250706..50253362,2	MCF-7	breast:
10	chr5:50227478..50230397-chr5:50232947..50234974,2	MCF-7	breast:
11	chr2:50799576..50800227-chr5:50253074..50253737,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251601	TF binding region
ENSG00000251601	chromatin interactions
ENSG00000250360	chromatin interactions

Extended variants
information (count: 195 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:195 , 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	rs1354171	chr5:50231548-50231549	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531311200	chr5:50231555-50231556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547880077	chr5:50231558-50231559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561781844	chr5:50231585-50231586	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570879169	chr5:50231595-50231596	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1993954	chr5:50231622-50231623	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115300150	chr5:50231709-50231710	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567048347	chr5:50231714-50231715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186411001	chr5:50231775-50231776	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552868920	chr5:50231790-50231791	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190777011	chr5:50231796-50231797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78886419	chr5:50231836-50231837	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554673401	chr5:50231840-50231841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560274493	chr5:50231878-50231879	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs79257062	chr5:50231918-50231919	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs17217942	chr5:50231926-50231927	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs553885901	chr5:50231927-50231928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576596348	chr5:50232013-50232014	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs147512582	chr5:50232014-50232015	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372234464	chr5:50232017-50232018	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545618947	chr5:50232057-50232058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200809065	chr5:50232075-50232076	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562398833	chr5:50232097-50232098	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs138504394	chr5:50232106-50232107	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542147920	chr5:50232113-50232114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561525204	chr5:50232149-50232150	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs527311515	chr5:50232174-50232175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549985920	chr5:50232176-50232177	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564185237	chr5:50232188-50232189	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143989446	chr5:50232298-50232299	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs27247	chr5:50232299-50232300	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183343392	chr5:50232315-50232316	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs76988699	chr5:50232359-50232360	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs16887778	chr5:50232403-50232404	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs568350393	chr5:50232465-50232466	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs561878188	chr5:50232492-50232493	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150752801	chr5:50232499-50232500	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553824681	chr5:50232507-50232508	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs27248	chr5:50232547-50232548	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs539207948	chr5:50232566-50232567	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188321657	chr5:50232574-50232575	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs201968951	chr5:50232593-50232594	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs27249	chr5:50232678-50232679	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs541737989	chr5:50232750-50232751	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs539974861	chr5:50232754-50232755	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191013468	chr5:50232756-50232757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571911465	chr5:50232828-50232829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs9686639	chr5:50232878-50232879	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552742008	chr5:50232925-50232926	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111251407	chr5:50232954-50232955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	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	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50243600-50244000	Enhancers	Fetal Brain Female	brain
2	chr5:50243600-50244200	Enhancers	Fetal Heart	heart
3	chr5:50243800-50244400	Enhancers	Stomach Smooth Muscle	stomach
4	chr5:50252000-50252600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:50253400-50255400	Enhancers	Pancreatic Islets	Pancreatic Islet

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