Variant report

Variant	nsv537036
Chromosome Location	chr4:10200876-10233606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:154)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:154 , 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	chr4:10202441-10202778	K562	blood:	n/a	n/a
3	ARID3A	chr4:10206912-10207070	K562	blood:	n/a	n/a
4	BACH1	chr4:10203548-10203807	K562	blood:	n/a	n/a
5	BCL3	chr4:10206907-10207282	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:10207080-10207159	K562	blood:	n/a	n/a
7	BHLHE40	chr4:10205400-10206307	K562	blood:	n/a	n/a
8	BHLHE40	chr4:10202450-10202808	K562	blood:	n/a	n/a
9	BHLHE40	chr4:10215328-10215399	K562	blood:	n/a	n/a
10	CBX3	chr4:10202326-10202914	K562	blood:	n/a	n/a
11	CBX3	chr4:10205085-10205934	K562	blood:	n/a	n/a
12	CBX3	chr4:10215024-10215411	K562	blood:	n/a	n/a
13	CCNT2	chr4:10205478-10205881	K562	blood:	n/a	n/a
14	CEBPB	chr4:10205485-10205827	K562	blood:	n/a	n/a
15	CEBPB	chr4:10207049-10207196	HepG2	liver:	n/a	n/a
16	CEBPB	chr4:10204959-10205937	K562	blood:	n/a	chr4:10205836-10205844 chr4:10205110-10205121
17	CEBPB	chr4:10202340-10202672	K562	blood:	n/a	n/a
18	CEBPB	chr4:10204944-10205268	HepG2	liver:	n/a	chr4:10205110-10205121
19	CHD2	chr4:10205617-10205911	K562	blood:	n/a	n/a
20	CTCF	chr4:10206160-10206310	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr4:10228640-10228790	AG10803	skin:	n/a	n/a
22	CTCF	chr4:10202324-10202720	K562	blood:	n/a	n/a
23	CTCF	chr4:10228620-10228770	AG10803	skin:	n/a	n/a
24	CTCF	chr4:10223320-10223470	GM12871	blood:	n/a	n/a
25	CUX1	chr4:10202470-10203041	K562	blood:	n/a	n/a
26	CUX1	chr4:10231375-10231514	K562	blood:	n/a	n/a
27	CUX1	chr4:10216907-10216974	K562	blood:	n/a	n/a
28	E2F4	chr4:10205018-10205083	MCF10A-Er-Src	breast:	n/a	n/a
29	EGR1	chr4:10205596-10205868	K562	blood:	n/a	n/a
30	EP300	chr4:10228752-10228903	GM12878	blood:	n/a	n/a
31	EP300	chr4:10202212-10202871	K562	blood:	n/a	n/a
32	EP300	chr4:10222976-10223159	K562	blood:	n/a	n/a
33	EP300	chr4:10206923-10207055	K562	blood:	n/a	n/a
34	EP300	chr4:10205474-10206001	K562	blood:	n/a	n/a
35	EP300	chr4:10203409-10203800	K562	blood:	n/a	chr4:10203664-10203678
36	EP300	chr4:10215339-10215503	K562	blood:	n/a	n/a
37	FOS	chr4:10206931-10207196	MCF10A-Er-Src	breast:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
38	FOS	chr4:10206894-10207369	HUVEC	blood vessel:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
39	FOS	chr4:10213970-10214925	HUVEC	blood vessel:	n/a	chr4:10214267-10214278
40	FOS	chr4:10206931-10207190	MCF10A-Er-Src	breast:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
41	FOS	chr4:10211872-10212674	HUVEC	blood vessel:	n/a	chr4:10212308-10212316
42	FOS	chr4:10206932-10207168	MCF10A-Er-Src	breast:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
43	FOSL2	chr4:10206885-10207217	HepG2	liver:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
44	GATA1	chr4:10202279-10202892	PBDE	blood:	n/a	n/a
45	GATA1	chr4:10202393-10203909	K562	blood:	n/a	chr4:10203650-10203659 chr4:10203472-10203481
46	GATA2	chr4:10205537-10205877	K562	blood:	n/a	n/a
47	GATA2	chr4:10202410-10202857	K562	blood:	n/a	n/a
48	GATA2	chr4:10202454-10202840	K562	blood:	n/a	n/a
49	GATA2	chr4:10205525-10205800	K562	blood:	n/a	n/a
50	GATA2	chr4:10214031-10214970	HUVEC	blood vessel:	n/a	n/a

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
2	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
3	chr4:10118560..10120526-chr4:10203986..10206288,3	K562	blood:
4	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
5	chr4:10118162..10120785-chr4:10200742..10203933,4	K562	blood:
6	chr4:10207125..10208799-chr4:10284967..10286577,2	K562	blood:
7	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
8	chr4:10119416..10121988-chr4:10218168..10219976,2	K562	blood:
9	chr4:10226621..10229156-chr4:10309809..10312332,2	K562	blood:
10	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:
11	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
12	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
13	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
14	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
15	chr4:10117656..10120785-chr4:10200069..10203011,5	K562	blood:
16	chr4:10175247..10177327-chr4:10228151..10230198,2	K562	blood:
17	chr4:10120021..10122735-chr4:10225048..10229120,3	K562	blood:
18	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
19	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
20	chr4:10118238..10121011-chr4:10211759..10213607,2	K562	blood:
21	chr4:10121764..10123838-chr4:10222085..10224894,2	K562	blood:
22	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:
23	chr4:10199615..10202739-chr4:10203951..10206560,3	K562	blood:
24	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
25	chr4:10114665..10116599-chr4:10227448..10229354,2	K562	blood:
26	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
27	chr4:10118276..10120462-chr4:10220218..10222885,3	K562	blood:
28	chr4:10202106..10207051-chr4:10207371..10210794,7	K562	blood:
29	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
30	chr4:10200377..10202730-chr4:10225143..10227711,2	K562	blood:
31	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
32	chr4:10210505..10213622-chr4:10215055..10217234,4	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
ENSG00000248777	chromatin interactions
ENSG00000071127	chromatin interactions

Extended variants
information (count: 1449 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1449 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544147235	chr4:10200898-10200899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs562673163	chr4:10200904-10200905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577869936	chr4:10200939-10200940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531199528	chr4:10200992-10200993	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562271617	chr4:10201002-10201003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs373741851	chr4:10201047-10201048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568443555	chr4:10201057-10201058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529230436	chr4:10201058-10201059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs564567963	chr4:10201085-10201086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377071605	chr4:10201094-10201095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528504161	chr4:10201102-10201103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546956989	chr4:10201125-10201126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530994469	chr4:10201133-10201134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75937985	chr4:10201136-10201137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529594745	chr4:10201140-10201141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115945336	chr4:10201142-10201143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs569150990	chr4:10201145-10201146	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs80073702	chr4:10201170-10201171	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs150530724	chr4:10201182-10201183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190562750	chr4:10201194-10201195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs182808603	chr4:10201201-10201202	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535009186	chr4:10201210-10201211	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533619586	chr4:10201243-10201244	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555366854	chr4:10201262-10201263	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs78535689	chr4:10201272-10201273	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538149059	chr4:10201287-10201288	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370023843	chr4:10201337-10201338	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374136115	chr4:10201340-10201341	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549415869	chr4:10201347-10201348	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs187135290	chr4:10201348-10201349	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545200288	chr4:10201357-10201358	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs146532476	chr4:10201394-10201395	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568378374	chr4:10201397-10201398	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375669874	chr4:10201398-10201399	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149030898	chr4:10201416-10201417	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs143032355	chr4:10201424-10201425	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561426859	chr4:10201430-10201431	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534616442	chr4:10201495-10201496	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs4697972	chr4:10201503-10201504	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs557465422	chr4:10201525-10201526	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs529021676	chr4:10201526-10201527	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs533383961	chr4:10201545-10201546	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs115809923	chr4:10201555-10201556	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs192324098	chr4:10201558-10201559	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs566926325	chr4:10201566-10201567	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs539632203	chr4:10201567-10201568	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs548761112	chr4:10201568-10201569	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs151157512	chr4:10201571-10201572	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs573136443	chr4:10201572-10201573	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs140219498	chr4:10201576-10201577	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 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:79 , 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	chr4:10200200-10202400	Enhancers	K562	blood
3	chr4:10200400-10202400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:10201200-10202000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:10201800-10202000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:10202000-10205000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:10202000-10205400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:10202400-10202600	Flanking Active TSS	K562	blood
9	chr4:10202600-10202800	Enhancers	K562	blood
10	chr4:10202800-10203000	Flanking Active TSS	K562	blood
11	chr4:10202800-10204200	Enhancers	HSMMtube	muscle
12	chr4:10203000-10203200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr4:10203000-10203400	Enhancers	K562	blood
14	chr4:10203200-10203600	Enhancers	HSMM	muscle
15	chr4:10203400-10203600	Flanking Active TSS	K562	blood
16	chr4:10203400-10204200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:10203600-10203800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr4:10203600-10204000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:10203600-10205400	Weak transcription	HSMM	muscle
20	chr4:10203600-10205400	Enhancers	K562	blood
21	chr4:10203800-10204000	Enhancers	HMEC	breast
22	chr4:10204000-10205400	Weak transcription	HMEC	breast
23	chr4:10204000-10205600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:10204200-10204600	Weak transcription	HSMMtube	muscle
25	chr4:10204200-10205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:10204600-10207400	Enhancers	HSMMtube	muscle
27	chr4:10205000-10205600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:10205000-10207800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:10205400-10205800	Enhancers	HMEC	breast
30	chr4:10205400-10206200	Flanking Active TSS	K562	blood
31	chr4:10205400-10206600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:10205400-10206800	Enhancers	HSMM	muscle
33	chr4:10205400-10207200	Enhancers	NHDF-Ad	bronchial
34	chr4:10205600-10205800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:10205600-10205800	Enhancers	Left Ventricle	heart
36	chr4:10205600-10206800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:10205600-10206800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:10205600-10207200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:10205600-10207200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:10206000-10206800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:10206200-10208400	Enhancers	K562	blood
42	chr4:10206400-10206600	Enhancers	Left Ventricle	heart
43	chr4:10206400-10207000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr4:10206400-10207000	Enhancers	Osteobl	bone
45	chr4:10206400-10208000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr4:10207200-10214000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:10207400-10207800	Weak transcription	HSMMtube	muscle
48	chr4:10207800-10210000	Enhancers	HSMMtube	muscle
49	chr4:10207800-10214600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:10208200-10208800	Enhancers	Placenta	Placenta

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