Variant report

Variant	nsv523268
Chromosome Location	chr4:10056082-10062326
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	E2F4	chr4:10056046-10056224	MCF10A-Er-Src	breast:	n/a	chr4:10056156-10056170
2	ELK1	chr4:10058936-10058952	K562	blood:	n/a	n/a
3	FOS	chr4:10056334-10056654	MCF10A-Er-Src	breast:	n/a	chr4:10056565-10056574 chr4:10056451-10056459
4	FOS	chr4:10056233-10056261	MCF10A-Er-Src	breast:	n/a	n/a
5	FOXP2	chr4:10056364-10056580	PFSK-1	brain:	n/a	n/a
6	HNF4G	chr4:10058035-10058263	HepG2	liver:	n/a	chr4:10058154-10058169
7	MAX	chr4:10055581-10056159	HepG2	liver:	n/a	chr4:10055867-10055876 chr4:10055869-10055876
8	MYC	chr4:10058745-10058779	NB4	blood:	n/a	n/a
9	NFIC	chr4:10056004-10056500	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr4:10056445-10056539	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr4:10057776-10058159	K562	blood:	n/a	n/a
12	POLR2A	chr4:10058816-10059910	K562	blood:	n/a	n/a
13	POLR2A	chr4:10060124-10062051	K562	blood:	n/a	n/a
14	POLR2A	chr4:10058392-10058397	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr4:10056494-10056638	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr4:10060068-10060186	MCF10A-Er-Src	breast:	n/a	n/a
17	USF1	chr4:10059967-10060209	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:10061810..10065204-chr4:10068602..10071736,4	MCF-7	breast:
2	chr4:10053096..10055486-chr4:10058375..10060110,2	K562	blood:
3	chr4:10060964..10064937-chr4:10066932..10071092,4	K562	blood:

Variant related genes	Relation type
SLC2A9	TF binding region

Extended variants
information (count: 278 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7683832	chr4:10056082-10056083	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147151163	chr4:10056119-10056120	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs182974760	chr4:10056143-10056144	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs572986244	chr4:10056190-10056191	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs550980918	chr4:10056211-10056212	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs540285093	chr4:10056234-10056235	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs561764428	chr4:10056262-10056263	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs185839217	chr4:10056294-10056295	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs77532923	chr4:10056335-10056336	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs551592501	chr4:10056362-10056363	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs7671266	chr4:10056376-10056377	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
12	rs200923908	chr4:10056409-10056410	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs533050489	chr4:10056460-10056461	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs114852591	chr4:10056473-10056474	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs369736144	chr4:10056496-10056497	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs533264426	chr4:10056506-10056507	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs566288822	chr4:10056527-10056528	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs553344106	chr4:10056573-10056574	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs571819324	chr4:10056585-10056586	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs114163284	chr4:10056598-10056599	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs374198192	chr4:10056614-10056615	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs191377664	chr4:10056624-10056625	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs568205150	chr4:10056630-10056631	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs183086725	chr4:10056643-10056644	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs557047891	chr4:10056662-10056663	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs187634726	chr4:10056672-10056673	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs539706765	chr4:10056707-10056708	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs566331495	chr4:10056742-10056743	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs192591086	chr4:10056760-10056761	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs573525899	chr4:10056789-10056790	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs540820619	chr4:10056809-10056810	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555536493	chr4:10056813-10056814	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115536323	chr4:10056849-10056850	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113051161	chr4:10056901-10056902	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77243794	chr4:10056917-10056918	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74650319	chr4:10056968-10056969	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544927654	chr4:10057020-10057021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs202108990	chr4:10057073-10057074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369911775	chr4:10057074-10057075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111438707	chr4:10057180-10057181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560010323	chr4:10057204-10057205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77308774	chr4:10057276-10057277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548748633	chr4:10057280-10057281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568241465	chr4:10057289-10057290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183470955	chr4:10057290-10057291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142767261	chr4:10057319-10057320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150663648	chr4:10057328-10057329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117522890	chr4:10057342-10057343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552144204	chr4:10057365-10057366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114690176	chr4:10057398-10057399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10035200-10065600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr4:10035400-10065200	Weak transcription	Right Ventricle	heart
3	chr4:10035800-10068400	Weak transcription	Aorta	Aorta
4	chr4:10041000-10065000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:10044600-10064800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr4:10044800-10056800	Weak transcription	Psoas Muscle	Psoas
7	chr4:10044800-10058800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr4:10048200-10065400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr4:10050000-10065000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:10050000-10066400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr4:10050200-10062600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:10050400-10063000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:10051000-10068200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:10051200-10057600	Weak transcription	Primary B cells from cord blood	blood
15	chr4:10051400-10060400	Weak transcription	Spleen	Spleen
16	chr4:10051400-10076200	Weak transcription	Small Intestine	intestine
17	chr4:10051800-10060400	Weak transcription	Fetal Intestine Small	intestine
18	chr4:10052200-10067800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:10052400-10056200	Weak transcription	NHEK	skin
20	chr4:10053200-10056600	Weak transcription	Primary T cells from cord blood	blood
21	chr4:10053200-10064600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:10053600-10056400	Weak transcription	HSMMtube	muscle
23	chr4:10053600-10056800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:10053600-10058000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:10053600-10060600	Weak transcription	Fetal Intestine Large	intestine
26	chr4:10053600-10064600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:10053800-10065000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:10054200-10058400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:10054600-10068600	Weak transcription	Gastric	stomach
30	chr4:10055200-10056800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr4:10055400-10056400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:10055400-10056800	Enhancers	HepG2	liver
33	chr4:10055400-10057200	Enhancers	Left Ventricle	heart
34	chr4:10055400-10057400	Enhancers	Brain Hippocampus Middle	brain
35	chr4:10055400-10058000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:10055400-10058800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:10055600-10056600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:10055600-10056600	Enhancers	Lung	lung
39	chr4:10055600-10056600	Enhancers	HUVEC	blood vessel
40	chr4:10055600-10056800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr4:10055600-10056800	Enhancers	Adipose Nuclei	Adipose
42	chr4:10055600-10057000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:10055600-10057200	Enhancers	Placenta	Placenta
44	chr4:10055600-10057200	Enhancers	Right Atrium	heart
45	chr4:10055600-10057200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr4:10055600-10057400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:10055600-10057400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:10055600-10057600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:10055800-10056200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:10055800-10056200	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links