Variant report

Variant	esv1840645
Chromosome Location	chr5:45007925-45054579
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	BATF	chr5:45017733-45018036	GM12878	blood:	n/a	chr5:45017901-45017912
2	BATF	chr5:45017504-45017655	GM12878	blood:	n/a	n/a
3	BCL11A	chr5:45017743-45018109	GM12878	blood:	n/a	n/a
4	BHLHE40	chr5:45038643-45038778	GM12878	blood:	n/a	n/a
5	BRCA1	chr5:45038492-45039027	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr5:45009705-45009856	A549	lung:	n/a	n/a
7	CEBPB	chr5:45024438-45024736	HepG2	liver:	n/a	chr5:45024594-45024605
8	CEBPB	chr5:45024506-45024752	A549	lung:	n/a	chr5:45024594-45024605
9	CHD1	chr5:45038726-45038899	GM12878	blood:	n/a	n/a
10	CHD2	chr5:45038595-45038772	GM12878	blood:	n/a	n/a
11	CTCF	chr5:45038576-45038762	Pancreas_OC	pancreas:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
12	CTCF	chr5:45038580-45038730	NHDF-neo	bronchial:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
13	CTCF	chr5:45038472-45038814	T-47D	breast:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
14	CTCF	chr5:45038600-45038750	HCT-116	colon:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
15	CTCF	chr5:45038640-45038790	GM12875	blood:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
16	CTCF	chr5:45038592-45038769	GM20000	blood:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
17	CTCF	chr5:45038600-45038750	AG10803	skin:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
18	CTCF	chr5:45038520-45038670	GM12867	blood:	n/a	n/a
19	CTCF	chr5:45038600-45038750	HMF	breast:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
20	CTCF	chr5:45038600-45038750	NHEK	skin:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
21	CTCF	chr5:45038463-45038825	ECC-1	luminal epithelium:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
22	CTCF	chr5:45038580-45038730	AG09309	skin:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
23	CTCF	chr5:45038640-45038790	HA-sp	spinal cord:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
24	CTCF	chr5:45038644-45038706	ProgFib	skin:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
25	CTCF	chr5:45038560-45038710	HRE	kidney:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
26	CTCF	chr5:45038591-45038763	MCF-7	breast:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
27	CTCF	chr5:45038547-45038814	SK-N-SH_RA	brain:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
28	CTCF	chr5:45038660-45038810	HFF-Myc	foreskin:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
29	CTCF	chr5:45038620-45038770	HPAF	blood vessel:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
30	CTCF	chr5:45038558-45038812	Hela-S3	cervix:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
31	CTCF	chr5:45038560-45038710	GM12867	blood:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
32	CTCF	chr5:45038580-45038730	AoAF	blood vessel:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
33	CTCF	chr5:45038620-45038770	AG09319	gingival:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
34	CTCF	chr5:45038600-45038750	GM12864	blood:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
35	CTCF	chr5:45038600-45038750	GM12873	blood:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
36	CTCF	chr5:45038560-45038710	Hela-S3	cervix:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
37	CTCF	chr5:45038620-45038770	HEK293	kidney:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
38	CTCF	chr5:45038600-45038750	AG04450	lung:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
39	CTCF	chr5:45038580-45038730	HUVEC	blood vessel:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
40	CTCF	chr5:45038560-45038710	NHLF	lung:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
41	CTCF	chr5:45038560-45038710	GM12866	blood:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
42	CTCF	chr5:45038600-45038750	GM12801	blood:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
43	CTCF	chr5:45038560-45038710	HPF	lung:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
44	CTCF	chr5:45038600-45038750	AG04449	skin:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
45	CTCF	chr5:45038580-45038730	HRE	kidney:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
46	CTCF	chr5:45038583-45038805	LNCaP	prostate:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
47	CTCF	chr5:45038620-45038770	GM12866	blood:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
48	CTCF	chr5:45038620-45038770	RPTEC	kidney:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
49	CTCF	chr5:45038569-45038789	HepG2	liver:	n/a	chr5:45038674-45038695 chr5:45038673-45038689 chr5:45038672-45038690
50	CTCF	chr5:45036300-45036450	SAEC	small airway:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:45038752-45038802	SK-N-SH_RA	brain:	n/a
2	chr5:45038752-45038802	HRE	kidney:	n/a
3	chr5:45038752-45038802	IMR90	lung:	fetal
4	chr5:45038752-45038802	SK-N-MC	brain:	n/a
5	chr5:45038752-45038802	LNCaP	prostate:	n/a
6	chr5:45038752-45038802	HIPEpiC	eye:	n/a
7	chr5:45038752-45038802	BE2_C	brain:	n/a
8	chr5:45038752-45038802	GM12891	blood:	n/a
9	chr5:45038752-45038802	AG04450	lung:	fetal
10	chr5:45038752-45038802	RPTEC	kidney:	n/a
11	chr5:45038752-45038802	GM12878	blood:	n/a
12	chr5:45038752-45038802	HMEC	breast:	n/a
13	chr5:45038752-45038802	ProgFib	skin:	n/a
14	chr5:45038752-45038802	Jurkat	blood:	n/a
15	chr5:45038752-45038802	ECC-1	luminal epithelium:	n/a
16	chr5:45038752-45038802	HCM	heart:	n/a
17	chr5:45038752-45038802	BJ	skin:	n/a
18	chr5:45038752-45038802	A549	lung:	n/a
19	chr5:45038752-45038802	GM06990	blood:	n/a
20	chr5:45038752-45038802	CMK	blood:	n/a
21	chr5:45038752-45038802	H1-hESC	embryonic stem cell:	embryo
22	chr5:45038752-45038802	HUVEC	blood vessel:	n/a
23	chr5:45038752-45038802	NB4	blood:	n/a
24	chr5:45038752-45038802	HNPCEpiC	eye:	n/a
25	chr5:45038752-45038802	NHDF-neo	bronchial:	n/a
26	chr5:45038752-45038802	SAEC	small airway:	n/a
27	chr5:45038752-45038802	ovcar-3	ovarian:	n/a
28	chr5:45038752-45038802	Hela-S3	cervix:	n/a
29	chr5:45038752-45038802	NT2-D1	testis:	n/a
30	chr5:45038752-45038802	HepG2	liver:	n/a
31	chr5:45038752-45038802	HAEpiC	amniotic membrane:	n/a
32	chr5:45038752-45038802	HCPEpiC	choroid plexus:	n/a
33	chr5:45038752-45038802	SK-N-SH	brain:	n/a
34	chr5:45038752-45038802	HCT-116	colon:	n/a
35	chr5:45038752-45038802	AoSMC	blood vessel:	n/a
36	chr5:45038752-45038802	MCF10A-Er-Src	breast:	n/a
37	chr5:45038752-45038802	AG09309	skin:	n/a
38	chr5:45038752-45038802	AG04449	skin:	fetal
39	chr5:45038752-45038802	MCF-7	breast:	n/a
40	chr5:45038752-45038802	SKMC	muscle:	n/a
41	chr5:45038752-45038802	Hepatocyte	liver:	n/a
42	chr5:45038752-45038802	HL-60	blood:	n/a
43	chr5:45038752-45038802	HCF	heart:	n/a
44	chr5:45038752-45038802	NH-A	brain:	n/a
45	chr5:45038752-45038802	Caco-2	colon:	n/a
46	chr5:45038752-45038802	K562	blood:	n/a
47	chr5:45038752-45038802	HEEpiC	esophagus:	n/a
48	chr5:45038752-45038802	GM12892	blood:	n/a
49	chr5:45038752-45038802	HRPEpiC	eye:	n/a
50	chr5:45038752-45038802	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr5:45038409..45039119-chr5:45520902..45521831,4	MCF-7	breast:
2	chr5:45037646..45040960-chr5:45042639..45045311,3	K562	blood:
3	chr5:45038244..45038751-chr5:45773997..45774955,2	MCF-7	breast:
4	chr5:45037646..45040960-chr5:45042639..45045311,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS30-3	chr5:45035301-45035378	XLOC_004374

Variant related genes	Relation type
ENSG00000248148	TF binding region
ENSG00000248148	CpG island

Extended variants
information (count: 583 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543449479	chr5:45021414-45021415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370489775	chr5:45021451-45021452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111496654	chr5:45021513-45021514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534746602	chr5:45021514-45021515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183404953	chr5:45021516-45021517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542364174	chr5:45021543-45021544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187814846	chr5:45021553-45021554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528678630	chr5:45021581-45021582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192386709	chr5:45021587-45021588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551643422	chr5:45021626-45021627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182214430	chr5:45021629-45021630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78623137	chr5:45021634-45021635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187721868	chr5:45021665-45021666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111347238	chr5:45021750-45021751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552985363	chr5:45021777-45021778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550995166	chr5:45021778-45021779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71610388	chr5:45021804-45021805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567554545	chr5:45021814-45021815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370157104	chr5:45021837-45021838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536722363	chr5:45021902-45021903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546793820	chr5:45021907-45021908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192787319	chr5:45021956-45021957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184881271	chr5:45021972-45021973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558078579	chr5:45021998-45021999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578027315	chr5:45021999-45022000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190106554	chr5:45022003-45022004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556871018	chr5:45022014-45022015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142609091	chr5:45022054-45022055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542674719	chr5:45022092-45022093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192105366	chr5:45022142-45022143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184414568	chr5:45022240-45022241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372383103	chr5:45022241-45022242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373936709	chr5:45022242-45022243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545244713	chr5:45022252-45022253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554727655	chr5:45022253-45022254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565229598	chr5:45022263-45022264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531069952	chr5:45022270-45022271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112568684	chr5:45022311-45022312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75556319	chr5:45022340-45022341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530073307	chr5:45022370-45022371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189468527	chr5:45022376-45022377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148235268	chr5:45022443-45022444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141361358	chr5:45022462-45022463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376875903	chr5:45022467-45022468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548255132	chr5:45022470-45022471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200623554	chr5:45022480-45022481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371272116	chr5:45022524-45022525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551558762	chr5:45022526-45022527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545549638	chr5:45022553-45022554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571473154	chr5:45022559-45022560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
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
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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	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
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45021400-45030200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:45024400-45024800	Enhancers	Liver	Liver
3	chr5:45030200-45030400	Strong transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:45030400-45036000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:45036000-45036200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:45036000-45036200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:45038400-45039000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:45038400-45039200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:45038400-45039200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:45038800-45039200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:45038800-45039200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:45038800-45039200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:45038800-45039200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:45038800-45039200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr5:45042400-45042800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:45054000-45054200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:45054000-45054600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:45054400-45055600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links