Variant report

Variant	esv1803948
Chromosome Location	chr5:37016522-37047066
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:229)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:229 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:37029034-37029373	IMR90	lung:	n/a	chr5:37029195-37029206
2	CEBPB	chr5:37038037-37038237	K562	blood:	n/a	n/a
3	CEBPB	chr5:37038053-37038236	A549	lung:	n/a	n/a
4	CEBPB	chr5:37016444-37016893	IMR90	lung:	n/a	chr5:37016714-37016725 chr5:37016712-37016725
5	CEBPB	chr5:37029035-37029370	A549	lung:	n/a	chr5:37029195-37029206
6	CEBPB	chr5:37029056-37029373	HepG2	liver:	n/a	chr5:37029195-37029206
7	CEBPB	chr5:37029037-37029346	K562	blood:	n/a	chr5:37029195-37029206
8	CEBPB	chr5:37038046-37038223	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr5:37043920-37044070	HL-60	blood:	n/a	n/a
10	CTCF	chr5:37043920-37044070	A549	lung:	n/a	n/a
11	CTCF	chr5:37044000-37044150	BJ	skin:	n/a	n/a
12	CTCF	chr5:37043820-37043970	GM12865	blood:	n/a	n/a
13	CTCF	chr5:37044000-37044150	GM12878	blood:	n/a	n/a
14	CTCF	chr5:37043778-37044138	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr5:37043900-37044050	HepG2	liver:	n/a	n/a
16	CTCF	chr5:37043912-37044023	GM13976	blood:	n/a	n/a
17	CTCF	chr5:37043980-37044130	HRE	kidney:	n/a	n/a
18	CTCF	chr5:37043960-37044110	K562	blood:	n/a	n/a
19	CTCF	chr5:37043920-37044070	GM12871	blood:	n/a	n/a
20	CTCF	chr5:37043840-37043990	NHEK	skin:	n/a	n/a
21	CTCF	chr5:37043871-37044021	GM13977	blood:	n/a	n/a
22	CTCF	chr5:37043800-37043950	RPTEC	kidney:	n/a	n/a
23	CTCF	chr5:37043922-37044058	MCF-7	breast:	n/a	n/a
24	CTCF	chr5:37043740-37043890	A549	lung:	n/a	n/a
25	CTCF	chr5:37043900-37044050	GM12873	blood:	n/a	n/a
26	CTCF	chr5:37043880-37044030	GM12873	blood:	n/a	n/a
27	CTCF	chr5:37043907-37044029	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr5:37043876-37044071	Gliobla	brain:	n/a	n/a
29	CTCF	chr5:37043860-37044010	NB4	blood:	n/a	n/a
30	CTCF	chr5:37043900-37044050	Caco-2	colon:	n/a	n/a
31	CTCF	chr5:37043880-37044030	GM12871	blood:	n/a	n/a
32	CTCF	chr5:37043907-37044027	GM10248	blood:	n/a	n/a
33	CTCF	chr5:37043880-37044030	MCF-7	breast:	n/a	n/a
34	CTCF	chr5:37043875-37044026	HepG2	liver:	n/a	n/a
35	CTCF	chr5:37043860-37044010	GM12864	blood:	n/a	n/a
36	CTCF	chr5:37043880-37044030	BE2_C	brain:	n/a	n/a
37	CTCF	chr5:37043900-37044050	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr5:37043920-37044070	GM12865	blood:	n/a	n/a
39	CTCF	chr5:37043920-37044070	Caco-2	colon:	n/a	n/a
40	CTCF	chr5:37043900-37044050	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr5:37043940-37044090	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr5:37043860-37044010	GM12868	blood:	n/a	n/a
43	CTCF	chr5:37043880-37044030	GM12867	blood:	n/a	n/a
44	CTCF	chr5:37043980-37044130	GM12867	blood:	n/a	n/a
45	CTCF	chr5:37043900-37044050	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr5:37044020-37044170	HMEC	breast:	n/a	n/a
47	CTCF	chr5:37043820-37043970	GM12864	blood:	n/a	n/a
48	CTCF	chr5:37043880-37044030	AG04449	skin:	n/a	n/a
49	CTCF	chr5:37043900-37044050	AG04449	skin:	n/a	n/a
50	CTCF	chr5:37043940-37044090	HA-sp	spinal cord:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:37015380..37017502-chr5:37021890..37025377,3	K562	blood:
2	chr5:37024346..37029453-chr5:37031923..37035955,4	K562	blood:
3	chr5:37015380..37017502-chr5:37021890..37025377,3	K562	blood:
4	chr5:37027894..37031584-chr5:37032093..37035843,4	K562	blood:
5	chr5:37040541..37042698-chr5:37053642..37056044,2	K562	blood:
6	chr5:37025436..37027538-chr5:37042888..37045586,2	K562	blood:
7	chr5:37027894..37031584-chr5:37032093..37035843,4	K562	blood:
8	chr5:37014427..37017404-chr5:37017872..37020445,3	K562	blood:
9	chr5:37025436..37027538-chr5:37042888..37045586,2	K562	blood:
10	chr5:37014427..37017404-chr5:37017872..37020445,3	K562	blood:
11	chr5:37046171..37047725-chr5:37048158..37050910,2	K562	blood:
12	chr5:37014667..37016465-chr5:37026836..37029191,2	K562	blood:
13	chr5:37009245..37010939-chr5:37023761..37025926,2	K562	blood:
14	chr5:37024346..37029453-chr5:37031923..37035955,4	K562	blood:
15	chr5:37045742..37048949-chr5:37051798..37054576,3	K562	blood:

No data

Variant related genes	Relation type
NIPBL	TF binding region

Extended variants
information (count: 1182 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1182 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs391366	chr5:37016522-37016523	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114439828	chr5:37016626-37016627	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575742668	chr5:37016632-37016633	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199882684	chr5:37016649-37016650	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112051177	chr5:37016675-37016676	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542921025	chr5:37016714-37016715	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532364006	chr5:37016735-37016736	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199712942	chr5:37016784-37016785	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569203222	chr5:37016799-37016800	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187868158	chr5:37016835-37016836	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191479895	chr5:37016838-37016839	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555042757	chr5:37016862-37016863	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566952889	chr5:37016877-37016878	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183134386	chr5:37016934-37016935	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146765231	chr5:37017041-37017042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80358381	chr5:37017109-37017110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374279126	chr5:37017137-37017138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80358372	chr5:37017150-37017151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112128017	chr5:37017171-37017172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62654861	chr5:37017205-37017206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149451089	chr5:37017250-37017251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371862635	chr5:37017295-37017296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534262971	chr5:37017347-37017348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577331266	chr5:37017373-37017374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544432809	chr5:37017384-37017385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111735866	chr5:37017419-37017420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556427176	chr5:37017422-37017423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574837538	chr5:37017475-37017476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140334155	chr5:37017483-37017484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62354970	chr5:37017489-37017490	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375058908	chr5:37017511-37017512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539915888	chr5:37017568-37017569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553909958	chr5:37017581-37017582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187859204	chr5:37017607-37017608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191589527	chr5:37017614-37017615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144080634	chr5:37017622-37017623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570095925	chr5:37017639-37017640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571044635	chr5:37017658-37017659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550827299	chr5:37017690-37017691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369375885	chr5:37017710-37017711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569164387	chr5:37017720-37017721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60984195	chr5:37017722-37017723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539513004	chr5:37017835-37017836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530062371	chr5:37017840-37017841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11951309	chr5:37017880-37017881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115156710	chr5:37017907-37017908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556603017	chr5:37017941-37017942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184759669	chr5:37018015-37018016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558752078	chr5:37018054-37018055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187908794	chr5:37018055-37018056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:836 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:36954400-37026400	Weak transcription	Pancreas	Pancrea
3	chr5:36954800-37023600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:36962400-37028400	Weak transcription	Spleen	Spleen
5	chr5:36965800-37018600	Weak transcription	Psoas Muscle	Psoas
6	chr5:36968800-37031200	Weak transcription	Aorta	Aorta
7	chr5:36969800-37065000	Weak transcription	Stomach Mucosa	stomach
8	chr5:36972600-37019200	Weak transcription	Brain Angular Gyrus	brain
9	chr5:36976600-37019200	Weak transcription	NHLF	lung
10	chr5:36976600-37022800	Weak transcription	Fetal Brain Male	brain
11	chr5:36979800-37057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:36991000-37064600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:36996800-37022400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:36997000-37020600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:36997600-37018200	Weak transcription	Left Ventricle	heart
16	chr5:36997600-37064600	Weak transcription	Esophagus	oesophagus
17	chr5:37000800-37026400	Weak transcription	Ovary	ovary
18	chr5:37001200-37066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:37001400-37022000	Weak transcription	Fetal Heart	heart
20	chr5:37002000-37026400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:37002600-37017000	Weak transcription	HSMMtube	muscle
22	chr5:37002600-37017800	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:37002600-37026400	Weak transcription	Small Intestine	intestine
24	chr5:37005200-37026400	Weak transcription	Right Ventricle	heart
25	chr5:37005200-37041800	Weak transcription	Lung	lung
26	chr5:37009200-37049200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:37010000-37017000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:37010200-37043600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr5:37010800-37019000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr5:37010800-37064600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:37011000-37054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:37011600-37020200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:37011600-37020600	Weak transcription	Brain Anterior Caudate	brain
34	chr5:37011800-37018000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:37011800-37018600	Weak transcription	Fetal Brain Female	brain
36	chr5:37011800-37019000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr5:37011800-37020600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:37012400-37064600	Weak transcription	Gastric	stomach
39	chr5:37014000-37016800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:37014000-37033000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:37014200-37016800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr5:37014200-37017000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:37014200-37025200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:37014200-37025600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:37014200-37030400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr5:37014200-37032600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:37014200-37032800	Strong transcription	Placenta	Placenta
48	chr5:37014200-37033000	Strong transcription	Liver	Liver
49	chr5:37014200-37033000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr5:37014200-37034600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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