Variant report

Variant	esv16061
Chromosome Location	chr5:70368885-70498283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:470)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:70456649-70456978	GM12878	blood:	n/a	n/a
2	BATF	chr5:70473436-70473649	GM12878	blood:	n/a	n/a
3	BATF	chr5:70473270-70473572	GM12878	blood:	n/a	n/a
4	BATF	chr5:70405611-70405957	GM12878	blood:	n/a	n/a
5	BATF	chr5:70456678-70456913	GM12878	blood:	n/a	n/a
6	BCL11A	chr5:70466178-70466577	GM12878	blood:	n/a	n/a
7	BCL11A	chr5:70493340-70493531	GM12878	blood:	n/a	n/a
8	BCL11A	chr5:70491903-70492088	GM12878	blood:	n/a	n/a
9	BCL11A	chr5:70405618-70405863	GM12878	blood:	n/a	n/a
10	BCL11A	chr5:70466234-70466446	GM12878	blood:	n/a	n/a
11	BCL11A	chr5:70497555-70497741	GM12878	blood:	n/a	n/a
12	BCL11A	chr5:70467406-70467579	GM12878	blood:	n/a	n/a
13	BCL11A	chr5:70456762-70456944	GM12878	blood:	n/a	n/a
14	BCL11A	chr5:70456746-70456985	GM12878	blood:	n/a	n/a
15	BHLHE40	chr5:70467222-70467633	HepG2	liver:	n/a	n/a
16	BHLHE40	chr5:70495349-70495582	HepG2	liver:	n/a	n/a
17	BHLHE40	chr5:70473739-70473978	HepG2	liver:	n/a	n/a
18	BHLHE40	chr5:70435263-70435547	HepG2	liver:	n/a	n/a
19	BHLHE40	chr5:70476360-70476599	HepG2	liver:	n/a	n/a
20	CEBPB	chr5:70393343-70393363	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr5:70395583-70395619	GM13976	blood:	n/a	n/a
22	CTCF	chr5:70424058-70424359	K562	blood:	n/a	n/a
23	CTCF	chr5:70424038-70424417	A549	lung:	n/a	n/a
24	CTCF	chr5:70446874-70446893	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr5:70424036-70424400	K562	blood:	n/a	n/a
26	CTCF	chr5:70388427-70388465	GM13976	blood:	n/a	n/a
27	CTCF	chr5:70475612-70475692	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr5:70385728-70385809	K562	blood:	n/a	n/a
29	CTCF	chr5:70424084-70424268	A549	lung:	n/a	n/a
30	CTCF	chr5:70385733-70385788	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr5:70406640-70406790	HepG2	liver:	n/a	n/a
32	CTCF	chr5:70464449-70464557	GM10248	blood:	n/a	n/a
33	CTCF	chr5:70424032-70424373	K562	blood:	n/a	n/a
34	CTCF	chr5:70428707-70429042	A549	lung:	n/a	n/a
35	CTCF	chr5:70385705-70385851	LNCaP	prostate:	n/a	n/a
36	CTCF	chr5:70385770-70385788	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr5:70377349-70377412	GM10266	blood:	n/a	n/a
38	CTCF	chr5:70404662-70404717	GM20000	blood:	n/a	n/a
39	CTCF	chr5:70383836-70383906	Spleen_OC	spleen:	n/a	n/a
40	CTCF	chr5:70380705-70380760	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr5:70385692-70385868	LNCaP	prostate:	n/a	n/a
42	EBF1	chr5:70491505-70491704	GM12878	blood:	n/a	n/a
43	EBF1	chr5:70469655-70469864	GM12878	blood:	n/a	n/a
44	EBF1	chr5:70478233-70478433	GM12878	blood:	n/a	n/a
45	EBF1	chr5:70467612-70467799	GM12878	blood:	n/a	n/a
46	EBF1	chr5:70456755-70457006	GM12878	blood:	n/a	n/a
47	EBF1	chr5:70456659-70457062	GM12878	blood:	n/a	n/a
48	EBF1	chr5:70465741-70466078	GM12878	blood:	n/a	n/a
49	EP300	chr5:70484632-70485067	GM12878	blood:	n/a	n/a
50	EP300	chr5:70424048-70424247	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:70372505-70372555	NT2-D1	testis:	n/a
2	chr5:70372505-70372555	SK-N-SH	brain:	n/a
3	chr5:70372505-70372555	U87	brain:	n/a
4	chr5:70372505-70372555	AG04450	lung:	fetal
5	chr5:70372505-70372555	ProgFib	skin:	n/a
6	chr5:70372505-70372555	SK-N-MC	brain:	n/a
7	chr5:70372505-70372555	HUVEC	blood vessel:	n/a
8	chr5:70372505-70372555	ovcar-3	ovarian:	n/a
9	chr5:70372505-70372555	K562	blood:	n/a
10	chr5:70372505-70372555	HepG2	liver:	n/a
11	chr5:70372505-70372555	AG10803	skin:	n/a
12	chr5:70372505-70372555	HPAEpiC	pulmonary alveolar:	n/a
13	chr5:70372505-70372555	BE2_C	brain:	n/a
14	chr5:70372505-70372555	BJ	skin:	n/a
15	chr5:70372505-70372555	AG09309	skin:	n/a
16	chr5:70372505-70372555	Caco-2	colon:	n/a
17	chr5:70372505-70372555	PANC-1	pancreas:	n/a
18	chr5:70372505-70372555	NHBE	bronchial:	n/a
19	chr5:70372505-70372555	HCT-116	colon:	n/a
20	chr5:70372505-70372555	PFSK-1	brain:	n/a
21	chr5:70372505-70372555	HRE	kidney:	n/a
22	chr5:70372505-70372555	GM12878	blood:	n/a
23	chr5:70372505-70372555	SAEC	small airway:	n/a
24	chr5:70372505-70372555	ECC-1	luminal epithelium:	n/a
25	chr5:70372505-70372555	IMR90	lung:	fetal
26	chr5:70372505-70372555	HCM	heart:	n/a
27	chr5:70372505-70372555	HEK293	kidney:	embryo
28	chr5:70372505-70372555	HRCEpiC	kidney:	n/a
29	chr5:70372505-70372555	AG04449	skin:	fetal
30	chr5:70372505-70372555	A549	lung:	n/a
31	chr5:70372505-70372555	AoSMC	blood vessel:	n/a
32	chr5:70372505-70372555	NB4	blood:	n/a
33	chr5:70372505-70372555	GM06990	blood:	n/a
34	chr5:70372505-70372555	T-47D	breast:	n/a
35	chr5:70372505-70372555	GM12892	blood:	n/a
36	chr5:70372505-70372555	SKMC	muscle:	n/a
37	chr5:70372505-70372555	SK-N-SH_RA	brain:	n/a
38	chr5:70372505-70372555	Hela-S3	cervix:	n/a
39	chr5:70372505-70372555	Hepatocyte	liver:	n/a
40	chr5:70372505-70372555	Jurkat	blood:	n/a
41	chr5:70372505-70372555	HL-60	blood:	n/a
42	chr5:70372505-70372555	HMEC	breast:	n/a
43	chr5:70372505-70372555	NHDF-neo	bronchial:	n/a
44	chr5:70372505-70372555	CMK	blood:	n/a
45	chr5:70372505-70372555	HAEpiC	amniotic membrane:	n/a
46	chr5:70372505-70372555	HEEpiC	esophagus:	n/a
47	chr5:70372505-70372555	RPTEC	kidney:	n/a
48	chr5:70372505-70372555	MCF-7	breast:	n/a
49	chr5:70372505-70372555	HCPEpiC	choroid plexus:	n/a
50	chr5:70372505-70372555	MCF10A-Er-Src	breast:	n/a

No data

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTF2H2-7	chr5:70492974-70493188	NONHSAT102005
2	lnc-GTF2H2-7	chr5:70493473-70493608	NONHSAT102005
3	lnc-SMN1-2	chr5:70378669-70379081	NONHSAT101998
4	lnc-GTF2H2-7	chr5:70493473-70493614	NONHSAT102003
5	lnc-GTF2H2-7	chr5:70438472-70438586	NONHSAT102003
6	lnc-SMN1-3	chr5:70485544-70485865	NONHSAT102004
7	lnc-GTF2H2-7	chr5:70435716-70435861	NONHSAT102003

No data

Variant related genes	Relation type
ENSG00000251634	TF binding region
ENSG00000238451	TF binding region
ENSG00000230847	TF binding region
CDH12P4	TF binding region
GUSBP9	TF binding region
ENSG00000251634	CpG island
ENSG00000238451	CpG island
ENSG00000230847	CpG island
CDH12P4	CpG island
GUSBP9	CpG island

Extended variants
information (count: 334 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543673528	chr5:70369061-70369062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561850515	chr5:70369071-70369072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530062815	chr5:70369188-70369189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182679662	chr5:70369354-70369355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541824261	chr5:70369742-70369743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560158404	chr5:70369859-70369860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527768886	chr5:70369888-70369889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374233305	chr5:70369921-70369922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370663152	chr5:70369938-70369939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187675661	chr5:70369956-70369957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570999739	chr5:70369984-70369985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531829869	chr5:70369993-70369994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371115260	chr5:70370043-70370044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2666626	chr5:70370109-70370110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370774294	chr5:70370154-70370155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568666110	chr5:70370315-70370316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536194121	chr5:70371081-70371082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553795200	chr5:70371087-70371088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565714417	chr5:70371096-70371097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539519041	chr5:70371104-70371105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557910121	chr5:70371107-70371108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576151654	chr5:70371128-70371129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543261867	chr5:70371129-70371130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57441369	chr5:70371135-70371136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555589289	chr5:70371136-70371137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573849762	chr5:70371150-70371151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530136230	chr5:70371373-70371374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540966912	chr5:70372457-70372458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370884961	chr5:70372469-70372470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560097075	chr5:70372506-70372507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527706110	chr5:70373157-70373158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545862817	chr5:70373174-70373175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376209441	chr5:70373240-70373241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193209515	chr5:70373257-70373258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531889709	chr5:70373279-70373280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs256922	chr5:70373280-70373281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550106434	chr5:70373290-70373291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568679772	chr5:70373311-70373312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569997738	chr5:70373513-70373514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529599092	chr5:70373742-70373743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548139342	chr5:70373745-70373746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs256921	chr5:70373763-70373764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539455158	chr5:70373802-70373803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183412136	chr5:70373812-70373813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187498659	chr5:70373826-70373827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537195433	chr5:70373849-70373850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs256920	chr5:70373874-70373875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192327766	chr5:70373913-70373914	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs184073794	chr5:70374002-70374003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540903483	chr5:70374033-70374034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Medullary thyroid carcinoma	18765511	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Autism	22549408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Disease	19212409	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Recurrent pregnancy loss	19789632	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70348200-70376200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:70392600-70395000	Weak transcription	Lung	lung
3	chr5:70392600-70395800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:70393400-70393800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:70393400-70393800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:70393400-70400600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:70393600-70393800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:70393600-70394200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:70393600-70394200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:70397400-70408400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:70398800-70408400	Weak transcription	Ovary	ovary
12	chr5:70404800-70408200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:70404800-70408200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:70404800-70408200	Weak transcription	Fetal Stomach	stomach
15	chr5:70405600-70408000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:70405600-70408000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:70405600-70408000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:70405600-70408000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:70405600-70408000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:70405600-70408000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:70405600-70408000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:70484800-70485000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:70492000-70494200	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:70492000-70494200	Weak transcription	Fetal Thymus	thymus
25	chr5:70492200-70494600	Weak transcription	Dnd41	blood
26	chr5:70492400-70494800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links