Variant report

Variant	nsv482744
Chromosome Location	chr5:45804703-45985047
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	BCL11A	chr5:45848140-45848326	H1-hESC	embryonic stem cell:	n/a	n/a
2	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
3	CEBPB	chr5:45905613-45905883	MCF-7	breast:	n/a	n/a
4	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
5	CEBPB	chr5:45822073-45822347	HepG2	liver:	n/a	chr5:45822202-45822215 chr5:45822242-45822253 chr5:45822202-45822213
6	CEBPB	chr5:45808983-45809181	A549	lung:	n/a	n/a
7	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
8	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
9	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
10	CHD2	chr5:45848073-45848341	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr5:45837421-45837504	GM13976	blood:	n/a	n/a
12	CTCF	chr5:45863040-45863190	HEK293	kidney:	n/a	n/a
13	CTCF	chr5:45870916-45871015	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr5:45863200-45863350	BE2_C	brain:	n/a	n/a
15	CTCF	chr5:45822940-45823090	HRE	kidney:	n/a	n/a
16	CTCF	chr5:45824540-45824690	K562	blood:	n/a	chr5:45824619-45824627
17	CTCF	chr5:45862920-45863070	HCT-116	colon:	n/a	n/a
18	CTCF	chr5:45862980-45863130	GM06990	blood:	n/a	n/a
19	CTCF	chr5:45857936-45857992	Pancreas_OC	pancreas:	n/a	n/a
20	CTCF	chr5:45863056-45863086	GM13977	blood:	n/a	n/a
21	CTCF	chr5:45857913-45858031	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr5:45862907-45863233	GM12878	blood:	n/a	n/a
23	CTCF	chr5:45870909-45870911	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr5:45862960-45863110	NB4	blood:	n/a	n/a
25	CTCF	chr5:45862940-45863090	MCF-7	breast:	n/a	n/a
26	CTCF	chr5:45862940-45863090	GM12873	blood:	n/a	n/a
27	CTCF	chr5:45862960-45863110	GM06990	blood:	n/a	n/a
28	CTCF	chr5:45863020-45863170	BE2_C	brain:	n/a	n/a
29	CTCF	chr5:45931968-45932010	GM20000	blood:	n/a	n/a
30	CTCF	chr5:45862980-45863130	MCF-7	breast:	n/a	n/a
31	CTCF	chr5:45857853-45858040	Medullo	brain:	n/a	n/a
32	CTCF	chr5:45862980-45863130	GM12864	blood:	n/a	n/a
33	CTCF	chr5:45840830-45840877	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr5:45862940-45863090	GM12874	blood:	n/a	n/a
35	CTCF	chr5:45863055-45863069	GM10248	blood:	n/a	n/a
36	CTCF	chr5:45863040-45863190	GM12873	blood:	n/a	n/a
37	CTCF	chr5:45863000-45863150	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr5:45807545-45807575	LNCaP	prostate:	n/a	n/a
39	CTCF	chr5:45864133-45864202	GM20000	blood:	n/a	n/a
40	CTCF	chr5:45807673-45807705	Lung_OC	lung:	n/a	n/a
41	CTCF	chr5:45907603-45907642	GM20000	blood:	n/a	n/a
42	CTCF	chr5:45862940-45863090	HEK293	kidney:	n/a	n/a
43	CTCF	chr5:45863041-45863076	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr5:45862940-45863090	GM12878	blood:	n/a	n/a
45	CTCF	chr5:45862980-45863130	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr5:45857859-45858019	GM10266	blood:	n/a	n/a
47	CTCF	chr5:45925298-45925335	GM10248	blood:	n/a	n/a
48	CTCF	chr5:45858720-45858870	GM12867	blood:	n/a	n/a
49	CTCF	chr5:45862960-45863110	GM12872	blood:	n/a	n/a
50	CTCF	chr5:45857814-45858029	GM10248	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56742322..56745282-chr5:45859385..45861280,2	MCF-7	breast:

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

Extended variants
information (count: 4363 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:4363 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573780549	chr5:45844252-45844253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201380909	chr5:45844260-45844261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34054119	chr5:45844263-45844264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79196384	chr5:45844264-45844265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113294860	chr5:45844265-45844266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370691915	chr5:45844274-45844275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190156523	chr5:45844300-45844301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181271400	chr5:45844305-45844306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185813816	chr5:45844336-45844337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10066821	chr5:45844338-45844339	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139526620	chr5:45844341-45844342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565569625	chr5:45844359-45844360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144208300	chr5:45844360-45844361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575889761	chr5:45844364-45844365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544899806	chr5:45844377-45844378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561279743	chr5:45844398-45844399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76883620	chr5:45844420-45844421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546672296	chr5:45844434-45844435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140181114	chr5:45844440-45844441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532368746	chr5:45844443-45844444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552326644	chr5:45844503-45844504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569241163	chr5:45844507-45844508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143932424	chr5:45844542-45844543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567317048	chr5:45844548-45844549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146843465	chr5:45844555-45844556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148984338	chr5:45844584-45844585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182347889	chr5:45844592-45844593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538628842	chr5:45844597-45844598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186340991	chr5:45844615-45844616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116090415	chr5:45844651-45844652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112606368	chr5:45844652-45844653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574668757	chr5:45844655-45844656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540471053	chr5:45844662-45844663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560203344	chr5:45844665-45844666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192304076	chr5:45844681-45844682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546279412	chr5:45844720-45844721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547204090	chr5:45844728-45844729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565792878	chr5:45844743-45844744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142098176	chr5:45844773-45844774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550587975	chr5:45844779-45844780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567595978	chr5:45844794-45844795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113587939	chr5:45844797-45844798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs67120001	chr5:45844799-45844800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569989098	chr5:45844801-45844802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183252233	chr5:45844829-45844830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546860408	chr5:45844849-45844850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35109900	chr5:45844890-45844891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76917541	chr5:45844894-45844895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576423000	chr5:45844898-45844899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73094261	chr5:45844916-45844917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45844200-45844800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:45844800-45847600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:45847600-45848200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:45847600-45848400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:45847600-45848800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:45847600-45848800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr5:45847600-45848800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr5:45847600-45848800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr5:45847600-45848800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:45847600-45848800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:45847800-45848600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:45847800-45848600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:45890800-45891200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:45891400-45891600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
15	chr5:45905400-45914800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:45911400-45912000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr5:45911400-45912600	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr5:45911600-45918600	ZNF genes & repeats	Liver	Liver
19	chr5:45914200-45916000	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr5:45917200-45918000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr5:45918400-45920400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr5:45930000-45931000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:45930200-45930600	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr5:45931000-45933400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:45933400-45933600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:45934200-45935400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr5:45934400-45935000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:45935600-45936200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr5:45936200-45936400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:45942800-45950000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:45942800-45954200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr5:45943000-45943600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr5:45946200-45953200	ZNF genes & repeats	Liver	Liver
34	chr5:45947200-45950000	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr5:45948600-45950000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:45949400-45950800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr5:45950800-45951000	ZNF genes & repeats	Psoas Muscle	Psoas
38	chr5:45951600-45962200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:45951800-45956800	ZNF genes & repeats	Adipose Nuclei	Adipose
40	chr5:45954800-45955400	Active TSS	Right Atrium	heart
41	chr5:45955200-45955400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
42	chr5:45956200-45957800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
43	chr5:45956600-45957000	Active TSS	Fetal Heart	heart
44	chr5:45957200-45958400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr5:45959600-45959800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
46	chr5:45960800-45961600	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr5:45963000-45966800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr5:45963200-45968200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr5:45964600-45967800	ZNF genes & repeats	Liver	Liver
50	chr5:45964800-45968000	ZNF genes & repeats	Adipose Nuclei	Adipose

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