Variant report

Variant	nsv997506
Chromosome Location	chr4:70083367-70171280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:272)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:70105540-70105900	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:70105523-70105754	K562	blood:	n/a	n/a
3	ARID3A	chr4:70106482-70106878	HepG2	liver:	n/a	n/a
4	ATF1	chr4:70105493-70105808	K562	blood:	n/a	n/a
5	ATF1	chr4:70087666-70087866	K562	blood:	n/a	n/a
6	BACH1	chr4:70097393-70097475	K562	blood:	n/a	n/a
7	BHLHE40	chr4:70105574-70105707	K562	blood:	n/a	n/a
8	BHLHE40	chr4:70087582-70087589	K562	blood:	n/a	n/a
9	CCNT2	chr4:70105530-70105702	K562	blood:	n/a	n/a
10	CEBPB	chr4:70107631-70107834	A549	lung:	n/a	chr4:70107721-70107732 chr4:70107722-70107733
11	CEBPB	chr4:70118972-70119263	HepG2	liver:	n/a	chr4:70119163-70119176
12	CEBPB	chr4:70148592-70148690	A549	lung:	n/a	chr4:70148623-70148634
13	CEBPB	chr4:70148545-70148642	K562	blood:	n/a	chr4:70148623-70148634
14	CEBPB	chr4:70106514-70106708	HepG2	liver:	n/a	n/a
15	CEBPB	chr4:70107648-70107863	HepG2	liver:	n/a	chr4:70107721-70107732 chr4:70107722-70107733
16	CEBPB	chr4:70105548-70105721	K562	blood:	n/a	n/a
17	CEBPB	chr4:70105462-70105782	K562	blood:	n/a	n/a
18	CEBPB	chr4:70148603-70148719	H1-hESC	embryonic stem cell:	n/a	chr4:70148623-70148634
19	CEBPD	chr4:70105414-70105831	K562	blood:	n/a	n/a
20	CTCF	chr4:70105486-70105552	K562	blood:	n/a	n/a
21	CTCF	chr4:70105505-70105507	LNCaP	prostate:	n/a	n/a
22	CTCF	chr4:70134403-70134636	MCF-7	breast:	n/a	n/a
23	CTCF	chr4:70116866-70116969	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr4:70097000-70097025	GM13977	blood:	n/a	n/a
25	CTCF	chr4:70142506-70142627	GM13976	blood:	n/a	n/a
26	CTCF	chr4:70134463-70134574	A549	lung:	n/a	n/a
27	CTCF	chr4:70089103-70089279	A549	lung:	n/a	n/a
28	CTCF	chr4:70134427-70134591	HepG2	liver:	n/a	n/a
29	CTCF	chr4:70142493-70142566	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr4:70116415-70116447	Lung_OC	lung:	n/a	n/a
31	CTCF	chr4:70134460-70134610	HepG2	liver:	n/a	n/a
32	CTCF	chr4:70089080-70089230	HepG2	liver:	n/a	n/a
33	CTCF	chr4:70089105-70089251	K562	blood:	n/a	n/a
34	CTCF	chr4:70134427-70134585	MCF-7	breast:	n/a	n/a
35	CTCF	chr4:70089054-70089358	A549	lung:	n/a	n/a
36	CTCF	chr4:70096114-70096171	GM10266	blood:	n/a	n/a
37	CTCF	chr4:70089131-70089152	Gliobla	brain:	n/a	n/a
38	CTCF	chr4:70089151-70089329	LNCaP	prostate:	n/a	n/a
39	CTCF	chr4:70105420-70105570	Caco-2	colon:	n/a	n/a
40	CTCF	chr4:70089128-70089240	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr4:70151540-70151587	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr4:70112166-70112248	GM10248	blood:	n/a	n/a
43	CTCF	chr4:70089088-70089310	MCF-7	breast:	n/a	n/a
44	CTCF	chr4:70089005-70089293	HepG2	liver:	n/a	n/a
45	CTCF	chr4:70098014-70098052	Lung_OC	lung:	n/a	n/a
46	CTCF	chr4:70134439-70134557	K562	blood:	n/a	n/a
47	CTCF	chr4:70134452-70134606	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr4:70134460-70134610	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr4:70089095-70089280	MCF-7	breast:	n/a	n/a
50	CTCF	chr4:70153576-70153582	GM10248	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:70155747-70155797	HNPCEpiC	eye:	n/a
2	chr4:70155747-70155797	K562	blood:	n/a
3	chr4:70155747-70155797	AG09309	skin:	n/a
4	chr4:70155747-70155797	Caco-2	colon:	n/a
5	chr4:70155747-70155797	H1-hESC	embryonic stem cell:	embryo
6	chr4:70155747-70155797	MCF-7	breast:	n/a
7	chr4:70155747-70155797	NT2-D1	testis:	n/a
8	chr4:70155747-70155797	SKMC	muscle:	n/a
9	chr4:70155747-70155797	NH-A	brain:	n/a
10	chr4:70155747-70155797	SK-N-SH_RA	brain:	n/a
11	chr4:70155747-70155797	Hela-S3	cervix:	n/a
12	chr4:70155747-70155797	HCM	heart:	n/a
13	chr4:70155747-70155797	HCF	heart:	n/a
14	chr4:70155747-70155797	NHDF-neo	bronchial:	n/a
15	chr4:70155747-70155797	PFSK-1	brain:	n/a
16	chr4:70155747-70155797	GM12878	blood:	n/a
17	chr4:70155747-70155797	AG04449	skin:	fetal
18	chr4:70155747-70155797	HCPEpiC	choroid plexus:	n/a
19	chr4:70155747-70155797	ECC-1	luminal epithelium:	n/a
20	chr4:70155747-70155797	HEK293	kidney:	embryo
21	chr4:70155747-70155797	AoSMC	blood vessel:	n/a
22	chr4:70155747-70155797	HMEC	breast:	n/a
23	chr4:70155747-70155797	HEEpiC	esophagus:	n/a
24	chr4:70155747-70155797	MCF10A-Er-Src	breast:	n/a
25	chr4:70155747-70155797	LNCaP	prostate:	n/a
26	chr4:70155747-70155797	CMK	blood:	n/a
27	chr4:70155747-70155797	AG09319	gingival:	n/a
28	chr4:70155747-70155797	HepG2	liver:	n/a
29	chr4:70155747-70155797	PANC-1	pancreas:	n/a
30	chr4:70155747-70155797	HIPEpiC	eye:	n/a
31	chr4:70155747-70155797	HRE	kidney:	n/a
32	chr4:70155747-70155797	IMR90	lung:	fetal
33	chr4:70155747-70155797	AG04450	lung:	fetal
34	chr4:70155747-70155797	ovcar-3	ovarian:	n/a
35	chr4:70155747-70155797	GM12891	blood:	n/a
36	chr4:70155747-70155797	HCT-116	colon:	n/a
37	chr4:70155747-70155797	Jurkat	blood:	n/a
38	chr4:70155747-70155797	RPTEC	kidney:	n/a
39	chr4:70155747-70155797	GM06990	blood:	n/a
40	chr4:70155747-70155797	AG10803	skin:	n/a
41	chr4:70155747-70155797	GM19239	blood:	n/a
42	chr4:70155747-70155797	HAEpiC	amniotic membrane:	n/a
43	chr4:70155747-70155797	U87	brain:	n/a
44	chr4:70155747-70155797	NHBE	bronchial:	n/a
45	chr4:70155747-70155797	GM12892	blood:	n/a
46	chr4:70155747-70155797	HUVEC	blood vessel:	n/a
47	chr4:70155747-70155797	PrEC	prostate:	n/a
48	chr4:70155747-70155797	BJ	skin:	n/a
49	chr4:70155747-70155797	Hepatocyte	liver:	n/a
50	chr4:70155747-70155797	SK-N-SH	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:69789542..69791043-chr4:70152702..70154403,2	MCF-7	breast:
2	chr20:45932378..45933054-chr4:70163468..70164237,2	MCF-7	breast:
3	chr4:69673177..69674687-chr4:70085938..70087696,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268803	TF binding region
ENSG00000249763	TF binding region
UGT2B28	TF binding region
UGT2B11	TF binding region
ENSG00000268803	CpG island
ENSG00000249763	CpG island
UGT2B28	CpG island
UGT2B11	CpG island
ENSG00000198277	chromatin interactions

Extended variants
information (count: 969 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:969 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557194359	chr4:70085804-70085805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577294800	chr4:70085853-70085854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189509686	chr4:70085856-70085857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559825517	chr4:70085870-70085871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528392650	chr4:70085872-70085873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542146565	chr4:70085873-70085874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34091436	chr4:70085882-70085883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561823235	chr4:70085894-70085895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530635423	chr4:70085904-70085905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550623529	chr4:70085972-70085973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112229182	chr4:70085981-70085982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs398083177	chr4:70085983-70085984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397689210	chr4:70085984-70085985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113893279	chr4:70085985-70085986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181171534	chr4:70085998-70085999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148408097	chr4:70086042-70086043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186574017	chr4:70086058-70086059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546370962	chr4:70086086-70086087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546180932	chr4:70086089-70086090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566179884	chr4:70086108-70086109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534941754	chr4:70086116-70086117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554854442	chr4:70086126-70086127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77331739	chr4:70086148-70086149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537223675	chr4:70086159-70086160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571540324	chr4:70086186-70086187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58371816	chr4:70086216-70086217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539985376	chr4:70086221-70086222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553356653	chr4:70086225-70086226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190348200	chr4:70086230-70086231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573281884	chr4:70086237-70086238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542109832	chr4:70086246-70086247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561986406	chr4:70086247-70086248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111859287	chr4:70086249-70086250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111307675	chr4:70086251-70086252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544061233	chr4:70086274-70086275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72639754	chr4:70086280-70086281	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs181684615	chr4:70086282-70086283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559680823	chr4:70086308-70086309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528876603	chr4:70086310-70086311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77076284	chr4:70086335-70086336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113549459	chr4:70086393-70086394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375468398	chr4:70086401-70086402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115004443	chr4:70086410-70086411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550891443	chr4:70086412-70086413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186256399	chr4:70086417-70086418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114771078	chr4:70086458-70086459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539899601	chr4:70086482-70086483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575499441	chr4:70086513-70086514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553518285	chr4:70086555-70086556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190999846	chr4:70086559-70086560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioblastoma multiforme	21510904	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:70085800-70086000	Enhancers	Fetal Intestine Large	intestine
2	chr4:70086000-70086400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:70086000-70087000	Weak transcription	Fetal Intestine Large	intestine
4	chr4:70086400-70087400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:70087000-70087600	Enhancers	Fetal Intestine Large	intestine
6	chr4:70087200-70088600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:70087400-70087600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:70088600-70090200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:70090200-70091000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:70090400-70090600	Enhancers	HepG2	liver
11	chr4:70090600-70091000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:70090600-70091000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:70090600-70091000	Enhancers	Fetal Stomach	stomach
14	chr4:70104600-70106600	Enhancers	Fetal Intestine Large	intestine
15	chr4:70105000-70106600	Enhancers	Fetal Intestine Small	intestine
16	chr4:70105000-70106600	Enhancers	HepG2	liver
17	chr4:70105200-70106000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr4:70105200-70106400	Enhancers	Duodenum Mucosa	Duodenum
19	chr4:70105200-70106400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr4:70105200-70106600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:70105200-70106800	Enhancers	Stomach Mucosa	stomach
22	chr4:70105400-70105800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:70105400-70106200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:70106200-70106600	Enhancers	Small Intestine	intestine
25	chr4:70106600-70108400	Weak transcription	HepG2	liver
26	chr4:70108400-70108800	Enhancers	HepG2	liver
27	chr4:70111600-70112000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:70112000-70113400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:70113400-70114000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:70132400-70133000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:70132400-70133200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:70132800-70133200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr4:70135200-70135600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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