Variant report

Variant	nsv597999
Chromosome Location	chr5:45854627-46287112
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	BACH1	chr5:46230781-46231153	K562	blood:	n/a	n/a
2	BACH1	chr5:46078760-46079137	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL11A	chr5:46093351-46093544	GM12878	blood:	n/a	n/a
4	CEBPB	chr5:45893506-45893786	IMR90	lung:	n/a	chr5:45893595-45893608 chr5:45893595-45893608 chr5:45893597-45893608 chr5:45893595-45893608 chr5:45893696-45893709 chr5:45893595-45893606
5	CEBPB	chr5:46096749-46097008	IMR90	lung:	n/a	n/a
6	CEBPB	chr5:46266550-46266842	HepG2	liver:	n/a	chr5:46266666-46266677
7	CEBPB	chr5:46098760-46098808	A549	lung:	n/a	n/a
8	CEBPB	chr5:46096674-46097051	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr5:45905613-45905883	MCF-7	breast:	n/a	n/a
10	CEBPB	chr5:45893568-45893768	K562	blood:	n/a	chr5:45893595-45893608 chr5:45893595-45893608 chr5:45893597-45893608 chr5:45893595-45893608 chr5:45893696-45893709 chr5:45893595-45893606
11	CEBPB	chr5:46247611-46247665	A549	lung:	n/a	n/a
12	CEBPB	chr5:45893462-45893790	HepG2	liver:	n/a	chr5:45893595-45893608 chr5:45893595-45893608 chr5:45893597-45893608 chr5:45893595-45893608 chr5:45893696-45893709 chr5:45893595-45893606
13	CEBPB	chr5:45893475-45893744	Hela-S3	cervix:	n/a	chr5:45893595-45893608 chr5:45893595-45893608 chr5:45893597-45893608 chr5:45893595-45893608 chr5:45893696-45893709 chr5:45893595-45893606
14	CEBPB	chr5:46096802-46097001	A549	lung:	n/a	n/a
15	CEBPB	chr5:45893484-45893777	A549	lung:	n/a	chr5:45893595-45893608 chr5:45893595-45893608 chr5:45893597-45893608 chr5:45893595-45893608 chr5:45893696-45893709 chr5:45893595-45893606
16	CHD2	chr5:46230782-46231075	K562	blood:	n/a	n/a
17	CTCF	chr5:45862907-45863233	GM12878	blood:	n/a	n/a
18	CTCF	chr5:45862960-45863110	HCT-116	colon:	n/a	n/a
19	CTCF	chr5:45870916-45871015	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr5:45863055-45863069	GM10248	blood:	n/a	n/a
21	CTCF	chr5:45857862-45857963	GM13977	blood:	n/a	n/a
22	CTCF	chr5:45857880-45858014	LNCaP	prostate:	n/a	n/a
23	CTCF	chr5:45862960-45863110	GM12868	blood:	n/a	n/a
24	CTCF	chr5:46131260-46131410	HEK293	kidney:	n/a	n/a
25	CTCF	chr5:45858720-45858870	GM12867	blood:	n/a	n/a
26	CTCF	chr5:45857814-45858029	GM10248	blood:	n/a	n/a
27	CTCF	chr5:45863000-45863150	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr5:45870909-45870911	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr5:45899485-45899515	Fibrobl	skin:	n/a	n/a
30	CTCF	chr5:46111800-46111950	HEK293	kidney:	n/a	n/a
31	CTCF	chr5:45925298-45925335	GM10248	blood:	n/a	n/a
32	CTCF	chr5:45863040-45863190	GM12873	blood:	n/a	n/a
33	CTCF	chr5:45862940-45863090	MCF-7	breast:	n/a	n/a
34	CTCF	chr5:45863020-45863170	BE2_C	brain:	n/a	n/a
35	CTCF	chr5:45862880-45863030	BE2_C	brain:	n/a	n/a
36	CTCF	chr5:45857936-45857992	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chr5:46133920-46133990	GM20000	blood:	n/a	n/a
38	CTCF	chr5:46007300-46007450	HEK293	kidney:	n/a	n/a
39	CTCF	chr5:45857842-45858017	GM20000	blood:	n/a	n/a
40	CTCF	chr5:45907161-45907220	GM20000	blood:	n/a	n/a
41	CTCF	chr5:45863200-45863350	BE2_C	brain:	n/a	n/a
42	CTCF	chr5:45931968-45932010	GM20000	blood:	n/a	n/a
43	CTCF	chr5:46007396-46007490	LNCaP	prostate:	n/a	n/a
44	CTCF	chr5:45862960-45863110	GM12872	blood:	n/a	n/a
45	CTCF	chr5:45907603-45907642	GM20000	blood:	n/a	n/a
46	CTCF	chr5:45857859-45858019	GM10266	blood:	n/a	n/a
47	CTCF	chr5:45862980-45863130	GM06990	blood:	n/a	n/a
48	CTCF	chr5:45862940-45863090	HEK293	kidney:	n/a	n/a
49	CTCF	chr5:45862960-45863110	GM06990	blood:	n/a	n/a
50	CTCF	chr5:45862980-45863130	WERI-Rb-1	eye:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:68265057..68265577-chr5:46205420..46205943,2	MCF-7	breast:
2	chr17:56742322..56745282-chr5:45859385..45861280,2	MCF-7	breast:
3	chr1:175202235..175203755-chr5:46204424..46205944,2	MCF-7	breast:
4	chr1:63102529..63105125-chr5:46100658..46103318,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250122	TF binding region
ENSG00000199426	chromatin interactions

Extended variants
information (count: 20325 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:20325 , 50 per page) page: 1 2 3 4 5 6 7 ... 407

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553751478	chr5:45859400-45859401	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553351112	chr5:45859404-45859405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116323555	chr5:45859406-45859407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542902386	chr5:45859446-45859447	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561574945	chr5:45859465-45859466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369000119	chr5:45859484-45859485	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544838763	chr5:45859486-45859487	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142442031	chr5:45859489-45859490	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185312949	chr5:45859493-45859494	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190183134	chr5:45859500-45859501	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560529230	chr5:45859503-45859504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181221840	chr5:45859518-45859519	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372646913	chr5:45859522-45859523	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546884191	chr5:45859543-45859544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115665121	chr5:45859544-45859545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186503239	chr5:45859552-45859553	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs73094297	chr5:45859583-45859584	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552459979	chr5:45859590-45859591	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569455134	chr5:45859608-45859609	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537938903	chr5:45859609-45859610	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572402197	chr5:45859610-45859611	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370313533	chr5:45859633-45859634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs13174022	chr5:45859636-45859637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548741477	chr5:45859647-45859648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546217421	chr5:45859662-45859663	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189723662	chr5:45859666-45859667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532506546	chr5:45859698-45859699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377303423	chr5:45859719-45859720	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs180949945	chr5:45859727-45859728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186291486	chr5:45859777-45859778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191077530	chr5:45859800-45859801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538948410	chr5:45859824-45859825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558452673	chr5:45859856-45859857	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144690824	chr5:45859874-45859875	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs544015489	chr5:45859888-45859889	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554288367	chr5:45859896-45859897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184071186	chr5:45859923-45859924	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs79520397	chr5:45859925-45859926	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs13158505	chr5:45859955-45859956	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs529819611	chr5:45859960-45859961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532665042	chr5:45859977-45859978	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs546502402	chr5:45859984-45859985	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573466412	chr5:45860000-45860001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs73094298	chr5:45860025-45860026	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548803381	chr5:45860028-45860029	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568529195	chr5:45860030-45860031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs114054546	chr5:45860036-45860037	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111911563	chr5:45860038-45860039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547786051	chr5:45860049-45860050	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs560234303	chr5:45860051-45860052	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Medulloblastoma	21163964	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45890800-45891200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:45891400-45891600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
3	chr5:45905400-45914800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:45911400-45912000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr5:45911400-45912600	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr5:45911600-45918600	ZNF genes & repeats	Liver	Liver
7	chr5:45914200-45916000	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr5:45917200-45918000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr5:45918400-45920400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr5:45930000-45931000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:45930200-45930600	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr5:45931000-45933400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:45933400-45933600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:45934200-45935400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr5:45934400-45935000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:45935600-45936200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr5:45936200-45936400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:45942800-45950000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:45942800-45954200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr5:45943000-45943600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr5:45946200-45953200	ZNF genes & repeats	Liver	Liver
22	chr5:45947200-45950000	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr5:45948600-45950000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:45949400-45950800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr5:45950800-45951000	ZNF genes & repeats	Psoas Muscle	Psoas
26	chr5:45951600-45962200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:45951800-45956800	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr5:45954800-45955400	Active TSS	Right Atrium	heart
29	chr5:45955200-45955400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr5:45956200-45957800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr5:45956600-45957000	Active TSS	Fetal Heart	heart
32	chr5:45957200-45958400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr5:45959600-45959800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
34	chr5:45960800-45961600	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr5:45963000-45966800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr5:45963200-45968200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr5:45964600-45967800	ZNF genes & repeats	Liver	Liver
38	chr5:45964800-45968000	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr5:45965400-45965600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr5:45966400-45968000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:45966600-45968600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr5:45970000-45972600	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr5:45974600-45975200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr5:45975000-45975800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:45982800-45984800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
46	chr5:45983200-45984400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:45984200-45987000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr5:45987000-45991600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:45987200-45987400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr5:45987400-45988200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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