Variant report

Variant	esv1849532
Chromosome Location	chr4:10197023-10233823
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:191)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:191 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:10206944-10207053	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:10206912-10207070	K562	blood:	n/a	n/a
3	ARID3A	chr4:10202441-10202778	K562	blood:	n/a	n/a
4	ATF1	chr4:10199601-10200004	K562	blood:	n/a	n/a
5	BACH1	chr4:10203548-10203807	K562	blood:	n/a	n/a
6	BCL3	chr4:10206907-10207282	GM12878	blood:	n/a	n/a
7	BHLHE40	chr4:10205400-10206307	K562	blood:	n/a	n/a
8	BHLHE40	chr4:10199645-10199963	K562	blood:	n/a	n/a
9	BHLHE40	chr4:10202450-10202808	K562	blood:	n/a	n/a
10	BHLHE40	chr4:10215328-10215399	K562	blood:	n/a	n/a
11	BHLHE40	chr4:10207080-10207159	K562	blood:	n/a	n/a
12	CBX3	chr4:10215024-10215411	K562	blood:	n/a	n/a
13	CBX3	chr4:10199584-10200081	K562	blood:	n/a	n/a
14	CBX3	chr4:10202326-10202914	K562	blood:	n/a	n/a
15	CBX3	chr4:10205085-10205934	K562	blood:	n/a	n/a
16	CCNT2	chr4:10205478-10205881	K562	blood:	n/a	n/a
17	CEBPB	chr4:10202340-10202672	K562	blood:	n/a	n/a
18	CEBPB	chr4:10205485-10205827	K562	blood:	n/a	n/a
19	CEBPB	chr4:10204944-10205268	HepG2	liver:	n/a	chr4:10205110-10205121
20	CEBPB	chr4:10204959-10205937	K562	blood:	n/a	chr4:10205836-10205844 chr4:10205110-10205121
21	CEBPB	chr4:10207049-10207196	HepG2	liver:	n/a	n/a
22	CHD2	chr4:10205617-10205911	K562	blood:	n/a	n/a
23	CTCF	chr4:10223320-10223470	GM12871	blood:	n/a	n/a
24	CTCF	chr4:10228620-10228770	AG10803	skin:	n/a	n/a
25	CTCF	chr4:10197776-10197817	LNCaP	prostate:	n/a	n/a
26	CTCF	chr4:10228640-10228790	AG10803	skin:	n/a	n/a
27	CTCF	chr4:10202324-10202720	K562	blood:	n/a	n/a
28	CTCF	chr4:10206160-10206310	AoAF	blood vessel:	n/a	n/a
29	CUX1	chr4:10231375-10231514	K562	blood:	n/a	n/a
30	CUX1	chr4:10216907-10216974	K562	blood:	n/a	n/a
31	CUX1	chr4:10202470-10203041	K562	blood:	n/a	n/a
32	E2F4	chr4:10205018-10205083	MCF10A-Er-Src	breast:	n/a	n/a
33	EGR1	chr4:10205596-10205868	K562	blood:	n/a	n/a
34	EP300	chr4:10203409-10203800	K562	blood:	n/a	chr4:10203664-10203678
35	EP300	chr4:10205474-10206001	K562	blood:	n/a	n/a
36	EP300	chr4:10215339-10215503	K562	blood:	n/a	n/a
37	EP300	chr4:10202212-10202871	K562	blood:	n/a	n/a
38	EP300	chr4:10228752-10228903	GM12878	blood:	n/a	n/a
39	EP300	chr4:10222976-10223159	K562	blood:	n/a	n/a
40	EP300	chr4:10199646-10199989	K562	blood:	n/a	n/a
41	EP300	chr4:10206923-10207055	K562	blood:	n/a	n/a
42	FOS	chr4:10211872-10212674	HUVEC	blood vessel:	n/a	chr4:10212308-10212316
43	FOS	chr4:10206931-10207196	MCF10A-Er-Src	breast:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
44	FOS	chr4:10213970-10214925	HUVEC	blood vessel:	n/a	chr4:10214267-10214278
45	FOS	chr4:10206931-10207190	MCF10A-Er-Src	breast:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
46	FOS	chr4:10206932-10207168	MCF10A-Er-Src	breast:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
47	FOS	chr4:10206894-10207369	HUVEC	blood vessel:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
48	FOSL2	chr4:10206885-10207217	HepG2	liver:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
49	GATA1	chr4:10202279-10202892	PBDE	blood:	n/a	n/a
50	GATA1	chr4:10202393-10203909	K562	blood:	n/a	chr4:10203650-10203659 chr4:10203472-10203481

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:10121764..10123838-chr4:10222085..10224894,2	K562	blood:
2	chr4:10200377..10202730-chr4:10225143..10227711,2	K562	blood:
3	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
4	chr4:10118560..10120526-chr4:10203986..10206288,3	K562	blood:
5	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
6	chr4:10207125..10208799-chr4:10284967..10286577,2	K562	blood:
7	chr4:10116403..10118365-chr4:10196419..10198714,2	K562	blood:
8	chr4:10117656..10120785-chr4:10200069..10203011,5	K562	blood:
9	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
10	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
11	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
12	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
13	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
14	chr4:10118162..10120785-chr4:10200742..10203933,4	K562	blood:
15	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:
16	chr4:10118276..10120462-chr4:10220218..10222885,3	K562	blood:
17	chr4:10202106..10207051-chr4:10207371..10210794,7	K562	blood:
18	chr4:10199615..10202739-chr4:10203951..10206560,3	K562	blood:
19	chr4:10226621..10229156-chr4:10309809..10312332,2	K562	blood:
20	chr4:10114665..10116599-chr4:10227448..10229354,2	K562	blood:
21	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
22	chr4:10118238..10121011-chr4:10211759..10213607,2	K562	blood:
23	chr4:10120021..10122735-chr4:10225048..10229120,3	K562	blood:
24	chr4:10119416..10121988-chr4:10218168..10219976,2	K562	blood:
25	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
26	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
27	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
28	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
29	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:
30	chr4:10175247..10177327-chr4:10228151..10230198,2	K562	blood:
31	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
32	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
33	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR1-7	chr4:10201447-10202296	NONHSAT095488

No data

Variant related genes	Relation type
ENSG00000248777	TF binding region
ENSG00000071127	chromatin interactions
ENSG00000248777	chromatin interactions
ENSG00000223086	chromatin interactions

Extended variants
information (count: 1765 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1765 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76942097	chr4:10197024-10197025	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs530575172	chr4:10197027-10197028	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs181840803	chr4:10197031-10197032	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs187291637	chr4:10197035-10197036	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs570757702	chr4:10197054-10197055	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112033206	chr4:10197058-10197059	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs150058332	chr4:10197072-10197073	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs1860902	chr4:10197073-10197074	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs559510179	chr4:10197080-10197081	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs190139681	chr4:10197084-10197085	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375266148	chr4:10197096-10197097	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs567925106	chr4:10197114-10197115	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs1860901	chr4:10197131-10197132	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs555092975	chr4:10197139-10197140	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570033075	chr4:10197141-10197142	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs537490067	chr4:10197147-10197148	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs558698687	chr4:10197155-10197156	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs577283721	chr4:10197156-10197157	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs529913297	chr4:10197176-10197177	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535338719	chr4:10197188-10197189	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs548486749	chr4:10197193-10197194	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs917823	chr4:10197225-10197226	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs575123488	chr4:10197226-10197227	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371646830	chr4:10197235-10197236	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs113436824	chr4:10197289-10197290	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs144406457	chr4:10197292-10197293	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs563425056	chr4:10197312-10197313	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs575232399	chr4:10197340-10197341	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs140711043	chr4:10197342-10197343	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs563946207	chr4:10197356-10197357	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs559930549	chr4:10197374-10197375	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs528038307	chr4:10197433-10197434	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs75674222	chr4:10197436-10197437	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs537033596	chr4:10197437-10197438	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs76785936	chr4:10197472-10197473	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs578120426	chr4:10197504-10197505	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs552242366	chr4:10197505-10197506	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs550489809	chr4:10197549-10197550	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs17454233	chr4:10197566-10197567	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537172407	chr4:10197580-10197581	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs144660707	chr4:10197595-10197596	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs113167619	chr4:10197599-10197600	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs6849993	chr4:10197633-10197634	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147892961	chr4:10197634-10197635	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs66769576	chr4:10197663-10197664	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs575164171	chr4:10197667-10197668	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs141648447	chr4:10197693-10197694	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs377334884	chr4:10197694-10197695	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs547535622	chr4:10197711-10197712	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs372943824	chr4:10197717-10197718	Weak transcription	Chromatin interactive region	2 gene(s)	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10192000-10201200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:10194200-10199200	Weak transcription	K562	blood
3	chr4:10199200-10199600	Enhancers	K562	blood
4	chr4:10199600-10200200	Flanking Active TSS	K562	blood
5	chr4:10200000-10200400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:10200200-10202400	Enhancers	K562	blood
7	chr4:10200400-10202400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:10201200-10202000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:10201800-10202000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:10202000-10205000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:10202000-10205400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:10202400-10202600	Flanking Active TSS	K562	blood
13	chr4:10202600-10202800	Enhancers	K562	blood
14	chr4:10202800-10203000	Flanking Active TSS	K562	blood
15	chr4:10202800-10204200	Enhancers	HSMMtube	muscle
16	chr4:10203000-10203200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr4:10203000-10203400	Enhancers	K562	blood
18	chr4:10203200-10203600	Enhancers	HSMM	muscle
19	chr4:10203400-10203600	Flanking Active TSS	K562	blood
20	chr4:10203400-10204200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:10203600-10203800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr4:10203600-10204000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:10203600-10205400	Weak transcription	HSMM	muscle
24	chr4:10203600-10205400	Enhancers	K562	blood
25	chr4:10203800-10204000	Enhancers	HMEC	breast
26	chr4:10204000-10205400	Weak transcription	HMEC	breast
27	chr4:10204000-10205600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:10204200-10204600	Weak transcription	HSMMtube	muscle
29	chr4:10204200-10205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:10204600-10207400	Enhancers	HSMMtube	muscle
31	chr4:10205000-10205600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:10205000-10207800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:10205400-10205800	Enhancers	HMEC	breast
34	chr4:10205400-10206200	Flanking Active TSS	K562	blood
35	chr4:10205400-10206600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:10205400-10206800	Enhancers	HSMM	muscle
37	chr4:10205400-10207200	Enhancers	NHDF-Ad	bronchial
38	chr4:10205600-10205800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:10205600-10205800	Enhancers	Left Ventricle	heart
40	chr4:10205600-10206800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:10205600-10206800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:10205600-10207200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:10205600-10207200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:10206000-10206800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:10206200-10208400	Enhancers	K562	blood
46	chr4:10206400-10206600	Enhancers	Left Ventricle	heart
47	chr4:10206400-10207000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr4:10206400-10207000	Enhancers	Osteobl	bone
49	chr4:10206400-10208000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:10207200-10214000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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