Variant report

Variant	nsv878685
Chromosome Location	chr4:9888994-9915741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:368)
CpG islands
(count:62)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr4:9895028-9895704	K562	blood:	n/a	n/a
2	CEBPB	chr4:9900375-9900657	K562	blood:	n/a	n/a
3	CEBPB	chr4:9900383-9900669	K562	blood:	n/a	n/a
4	CEBPB	chr4:9900393-9900739	MCF-7	breast:	n/a	n/a
5	CEBPB	chr4:9900230-9900797	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr4:9895337-9895676	K562	blood:	n/a	n/a
7	CEBPB	chr4:9915458-9915692	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr4:9895305-9895547	K562	blood:	n/a	n/a
9	CEBPD	chr4:9895204-9895804	K562	blood:	n/a	chr4:9895425-9895436
10	CEBPD	chr4:9895295-9895750	K562	blood:	n/a	chr4:9895425-9895436
11	CEBPZ	chr4:9901305-9901320	HepG2	liver:	n/a	n/a
12	CHD2	chr4:9900292-9900700	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr4:9900420-9900570	AG04449	skin:	n/a	n/a
14	CTCF	chr4:9915484-9915766	GM12878	blood:	n/a	n/a
15	CTCF	chr4:9900360-9900510	AG04449	skin:	n/a	n/a
16	CTCF	chr4:9915600-9915750	GM12873	blood:	n/a	n/a
17	CTCF	chr4:9900345-9900531	GM12891	blood:	n/a	n/a
18	CTCF	chr4:9900456-9900548	GM20000	blood:	n/a	n/a
19	CTCF	chr4:9900366-9900591	K562	blood:	n/a	n/a
20	CTCF	chr4:9900330-9900564	MCF-7	breast:	n/a	n/a
21	CTCF	chr4:9900340-9900490	HFF-Myc	foreskin:	n/a	n/a
22	CTCF	chr4:9901766-9901834	Fibrobl	skin:	n/a	n/a
23	CTCF	chr4:9915560-9915710	GM12865	blood:	n/a	n/a
24	CTCF	chr4:9900336-9900619	IMR90	lung:	n/a	n/a
25	CTCF	chr4:9900404-9900498	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr4:9900389-9900557	HepG2	liver:	n/a	n/a
27	CTCF	chr4:9915540-9915690	GM12875	blood:	n/a	n/a
28	CTCF	chr4:9900400-9900550	AG09319	gingival:	n/a	n/a
29	CTCF	chr4:9900340-9900490	GM12875	blood:	n/a	n/a
30	CTCF	chr4:9900331-9900668	K562	blood:	n/a	n/a
31	CTCF	chr4:9915614-9915700	GM19239	blood:	n/a	n/a
32	CTCF	chr4:9900380-9900530	NHEK	skin:	n/a	n/a
33	CTCF	chr4:9900460-9900610	K562	blood:	n/a	n/a
34	CTCF	chr4:9915400-9915550	NHEK	skin:	n/a	n/a
35	CTCF	chr4:9900440-9900590	GM12873	blood:	n/a	n/a
36	CTCF	chr4:9900440-9900590	GM12869	blood:	n/a	n/a
37	CTCF	chr4:9900400-9900537	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr4:9900360-9900510	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr4:9900380-9900530	GM06990	blood:	n/a	n/a
40	CTCF	chr4:9903500-9903650	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr4:9900460-9900610	NHLF	lung:	n/a	n/a
42	CTCF	chr4:9900355-9900546	T-47D	breast:	n/a	n/a
43	CTCF	chr4:9915500-9915650	HEK293	kidney:	n/a	n/a
44	CTCF	chr4:9900340-9900610	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr4:9900460-9900610	HVMF	connective:	n/a	n/a
46	CTCF	chr4:9900346-9900606	LNCaP	prostate:	n/a	n/a
47	CTCF	chr4:9900360-9900510	A549	lung:	n/a	n/a
48	CTCF	chr4:9915560-9915710	GM12878	blood:	n/a	n/a
49	CTCF	chr4:9915500-9915650	GM06990	blood:	n/a	n/a
50	CTCF	chr4:9900340-9900490	GM06990	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:9892887-9892937	H1-hESC	embryonic stem cell:	embryo
2	chr4:9892887-9892937	H1-hESC	embryonic stem cell:	embryo
3	chr4:9892887-9892937	AG09309	skin:	n/a
4	chr4:9892887-9892937	HCF	heart:	n/a
5	chr4:9892887-9892937	AG04450	lung:	fetal
6	chr4:9892887-9892937	GM12891	blood:	n/a
7	chr4:9892887-9892937	SK-N-SH	brain:	n/a
8	chr4:9892887-9892937	HRE	kidney:	n/a
9	chr4:9892887-9892937	Jurkat	blood:	n/a
10	chr4:9892887-9892937	GM12892	blood:	n/a
11	chr4:9892887-9892937	A549	lung:	n/a
12	chr4:9892887-9892937	PrEC	prostate:	n/a
13	chr4:9892887-9892937	HCM	heart:	n/a
14	chr4:9892887-9892937	IMR90	lung:	fetal
15	chr4:9892887-9892937	SK-N-SH_RA	brain:	n/a
16	chr4:9892887-9892937	LNCaP	prostate:	n/a
17	chr4:9892887-9892937	Caco-2	colon:	n/a
18	chr4:9892887-9892937	BJ	skin:	n/a
19	chr4:9892887-9892937	ProgFib	skin:	n/a
20	chr4:9892887-9892937	K562	blood:	n/a
21	chr4:9892887-9892937	MCF10A-Er-Src	breast:	n/a
22	chr4:9892887-9892937	GM12878	blood:	n/a
23	chr4:9892887-9892937	CMK	blood:	n/a
24	chr4:9892887-9892937	HPAEpiC	pulmonary alveolar:	n/a
25	chr4:9892887-9892937	HUVEC	blood vessel:	n/a
26	chr4:9892887-9892937	SK-N-MC	brain:	n/a
27	chr4:9892887-9892937	GM19239	blood:	n/a
28	chr4:9892887-9892937	T-47D	breast:	n/a
29	chr4:9892887-9892937	HepG2	liver:	n/a
30	chr4:9892887-9892937	HCPEpiC	choroid plexus:	n/a
31	chr4:9892887-9892937	HIPEpiC	eye:	n/a
32	chr4:9892887-9892937	HMEC	breast:	n/a
33	chr4:9892887-9892937	RPTEC	kidney:	n/a
34	chr4:9892887-9892937	AoSMC	blood vessel:	n/a
35	chr4:9892887-9892937	ECC-1	luminal epithelium:	n/a
36	chr4:9892887-9892937	PANC-1	pancreas:	n/a
37	chr4:9892887-9892937	SAEC	small airway:	n/a
38	chr4:9892887-9892937	NHDF-neo	bronchial:	n/a
39	chr4:9892887-9892937	MCF-7	breast:	n/a
40	chr4:9892887-9892937	PFSK-1	brain:	n/a
41	chr4:9892887-9892937	NH-A	brain:	n/a
42	chr4:9892887-9892937	HL-60	blood:	n/a
43	chr4:9892887-9892937	HEEpiC	esophagus:	n/a
44	chr4:9892887-9892937	Hepatocyte	liver:	n/a
45	chr4:9892887-9892937	SKMC	muscle:	n/a
46	chr4:9892887-9892937	HCT-116	colon:	n/a
47	chr4:9892887-9892937	HEK293	kidney:	embryo
48	chr4:9892887-9892937	HRCEpiC	kidney:	n/a
49	chr4:9892887-9892937	NB4	blood:	n/a
50	chr4:9892887-9892937	NT2-D1	testis:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:9766848..9767385-chr4:9900038..9900893,4	MCF-7	breast:
2	chr4:9903730..9906582-chr4:9912941..9915065,2	MCF-7	breast:
3	chr4:9766226..9767390-chr4:9899951..9901032,8	MCF-7	breast:
4	chr4:9764792..9765537-chr4:9899989..9900954,5	MCF-7	breast:
5	chr4:9898528..9900449-chr4:10019179..10021130,2	MCF-7	breast:
6	chr4:9903730..9906582-chr4:9912941..9915065,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC2A9	TF binding region
SLC2A9	CpG island
ENSG00000109667	chromatin interactions

Extended variants
information (count: 1149 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1149 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112136822	chr4:9888994-9888995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150633689	chr4:9889012-9889013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534944966	chr4:9889028-9889029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4697905	chr4:9889042-9889043	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6836878	chr4:9889069-9889070	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535562045	chr4:9889121-9889122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113938491	chr4:9889180-9889181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372032901	chr4:9889181-9889182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375407623	chr4:9889201-9889202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201422078	chr4:9889229-9889230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575317463	chr4:9889234-9889235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546075675	chr4:9889238-9889239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386352361	chr4:9889242-9889243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs121908323	chr4:9889247-9889248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369754879	chr4:9889261-9889262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200703718	chr4:9889270-9889271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373039295	chr4:9889294-9889295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112539053	chr4:9889295-9889296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188877202	chr4:9889313-9889314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140083819	chr4:9889314-9889315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530098744	chr4:9889364-9889365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548285512	chr4:9889382-9889383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143330986	chr4:9889435-9889436	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs6818572	chr4:9889448-9889449	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs56399359	chr4:9889487-9889488	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs200180059	chr4:9889492-9889493	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs535196733	chr4:9889494-9889495	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs547183458	chr4:9889544-9889545	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs77114052	chr4:9889560-9889561	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs535499348	chr4:9889619-9889620	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs568278837	chr4:9889630-9889631	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs557140627	chr4:9889643-9889644	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs139352439	chr4:9889671-9889672	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs79131071	chr4:9889678-9889679	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs140391260	chr4:9889730-9889731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376861113	chr4:9889731-9889732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57746274	chr4:9889736-9889737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74527509	chr4:9889737-9889738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6858614	chr4:9889740-9889741	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558012424	chr4:9889742-9889743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573024710	chr4:9889745-9889746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528658249	chr4:9889746-9889747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540151870	chr4:9889748-9889749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561504193	chr4:9889753-9889754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573504261	chr4:9889795-9889796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557312335	chr4:9889810-9889811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371412238	chr4:9889857-9889858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4697906	chr4:9889896-9889897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35409670	chr4:9889897-9889898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4697907	chr4:9889898-9889899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9877800-9890000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:9879200-9889000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:9879200-9894800	Strong transcription	HepG2	liver
4	chr4:9879200-9894800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr4:9879800-9894000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:9880200-9894600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr4:9881000-9894200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:9882600-9903600	Weak transcription	Fetal Intestine Large	intestine
9	chr4:9883000-9890600	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:9883600-9893000	Weak transcription	Placenta	Placenta
11	chr4:9885200-9893800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:9885400-9890600	Weak transcription	Right Atrium	heart
13	chr4:9885600-9890000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:9887000-9889200	Strong transcription	Fetal Intestine Small	intestine
15	chr4:9887000-9890000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:9887200-9889200	Strong transcription	HMEC	breast
17	chr4:9887600-9889000	Strong transcription	Liver	Liver
18	chr4:9887800-9889000	Strong transcription	NHEK	skin
19	chr4:9888200-9892400	Weak transcription	Spleen	Spleen
20	chr4:9888800-9905800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:9889000-9891200	Weak transcription	NHEK	skin
22	chr4:9889000-9892200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:9889000-9906200	Weak transcription	Liver	Liver
24	chr4:9889200-9890000	Weak transcription	HMEC	breast
25	chr4:9889200-9890200	Weak transcription	Fetal Intestine Small	intestine
26	chr4:9890000-9890600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:9890000-9893400	Strong transcription	HMEC	breast
28	chr4:9890200-9890800	Enhancers	Lung	lung
29	chr4:9890200-9891400	Enhancers	Adipose Nuclei	Adipose
30	chr4:9890200-9892200	Strong transcription	Fetal Intestine Small	intestine
31	chr4:9890400-9892400	Enhancers	Left Ventricle	heart
32	chr4:9890600-9890800	Enhancers	Fetal Muscle Leg	muscle
33	chr4:9890600-9891000	Enhancers	Right Atrium	heart
34	chr4:9890600-9905600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:9890800-9891000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr4:9890800-9891200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr4:9890800-9893800	Weak transcription	Lung	lung
38	chr4:9891000-9892200	Weak transcription	Aorta	Aorta
39	chr4:9891000-9895000	Weak transcription	Right Atrium	heart
40	chr4:9891200-9892800	Strong transcription	NHEK	skin
41	chr4:9891400-9892600	Weak transcription	Adipose Nuclei	Adipose
42	chr4:9892200-9893400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:9892200-9903600	Weak transcription	Fetal Intestine Small	intestine
44	chr4:9892400-9892600	Genic enhancers	Spleen	Spleen
45	chr4:9892600-9892800	Enhancers	Adipose Nuclei	Adipose
46	chr4:9892600-9892800	Enhancers	Spleen	Spleen
47	chr4:9892800-9893800	Weak transcription	Spleen	Spleen
48	chr4:9892800-9903600	Weak transcription	NHEK	skin
49	chr4:9893400-9897600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:9893400-9900200	Weak transcription	HMEC	breast

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