Variant report

Variant	nsv1007719
Chromosome Location	chr4:10199932-10230785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:171)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:171 , 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	chr4:10206912-10207070	K562	blood:	n/a	n/a
2	ARID3A	chr4:10202441-10202778	K562	blood:	n/a	n/a
3	ARID3A	chr4:10206944-10207053	HepG2	liver:	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	chr4:10215328-10215399	K562	blood:	n/a	n/a
8	BHLHE40	chr4:10207080-10207159	K562	blood:	n/a	n/a
9	BHLHE40	chr4:10199645-10199963	K562	blood:	n/a	n/a
10	BHLHE40	chr4:10202450-10202808	K562	blood:	n/a	n/a
11	BHLHE40	chr4:10205400-10206307	K562	blood:	n/a	n/a
12	CBX3	chr4:10205085-10205934	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	chr4:10215024-10215411	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	chr4:10204959-10205937	K562	blood:	n/a	chr4:10205836-10205844 chr4:10205110-10205121
20	CEBPB	chr4:10207049-10207196	HepG2	liver:	n/a	n/a
21	CEBPB	chr4:10204944-10205268	HepG2	liver:	n/a	chr4:10205110-10205121
22	CHD2	chr4:10205617-10205911	K562	blood:	n/a	n/a
23	CTCF	chr4:10206160-10206310	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr4:10228640-10228790	AG10803	skin:	n/a	n/a
25	CTCF	chr4:10223320-10223470	GM12871	blood:	n/a	n/a
26	CTCF	chr4:10202324-10202720	K562	blood:	n/a	n/a
27	CTCF	chr4:10228620-10228770	AG10803	skin:	n/a	n/a
28	CUX1	chr4:10216907-10216974	K562	blood:	n/a	n/a
29	CUX1	chr4:10202470-10203041	K562	blood:	n/a	n/a
30	E2F4	chr4:10205018-10205083	MCF10A-Er-Src	breast:	n/a	n/a
31	EGR1	chr4:10205596-10205868	K562	blood:	n/a	n/a
32	EP300	chr4:10228752-10228903	GM12878	blood:	n/a	n/a
33	EP300	chr4:10199646-10199989	K562	blood:	n/a	n/a
34	EP300	chr4:10203409-10203800	K562	blood:	n/a	chr4:10203664-10203678
35	EP300	chr4:10206923-10207055	K562	blood:	n/a	n/a
36	EP300	chr4:10215339-10215503	K562	blood:	n/a	n/a
37	EP300	chr4:10222976-10223159	K562	blood:	n/a	n/a
38	EP300	chr4:10202212-10202871	K562	blood:	n/a	n/a
39	EP300	chr4:10205474-10206001	K562	blood:	n/a	n/a
40	FOS	chr4:10206894-10207369	HUVEC	blood vessel:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
41	FOS	chr4:10206932-10207168	MCF10A-Er-Src	breast:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
42	FOS	chr4:10211872-10212674	HUVEC	blood vessel:	n/a	chr4:10212308-10212316
43	FOS	chr4:10213970-10214925	HUVEC	blood vessel:	n/a	chr4:10214267-10214278
44	FOS	chr4:10206931-10207196	MCF10A-Er-Src	breast:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
45	FOS	chr4:10206931-10207190	MCF10A-Er-Src	breast:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
46	FOSL2	chr4:10206885-10207217	HepG2	liver:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
47	GATA1	chr4:10202279-10202892	PBDE	blood:	n/a	n/a
48	GATA1	chr4:10202393-10203909	K562	blood:	n/a	chr4:10203650-10203659 chr4:10203472-10203481
49	GATA2	chr4:10202481-10202793	K562	blood:	n/a	n/a
50	GATA2	chr4:10205537-10205877	K562	blood:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

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

Extended variants
information (count: 1432 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1432 , 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	rs192129421	chr4:10199932-10199933	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs138552865	chr4:10199933-10199934	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs563139168	chr4:10199947-10199948	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs55878266	chr4:10199948-10199949	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs376196145	chr4:10199955-10199956	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552092134	chr4:10199961-10199962	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs564036963	chr4:10199963-10199964	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs528297896	chr4:10199966-10199967	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546406411	chr4:10199967-10199968	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568217845	chr4:10199975-10199976	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs536353015	chr4:10199980-10199981	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs149604356	chr4:10199988-10199989	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569995168	chr4:10199990-10199991	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs115474269	chr4:10200010-10200011	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs559322886	chr4:10200022-10200023	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553138234	chr4:10200064-10200065	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs13123000	chr4:10200079-10200080	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs367869817	chr4:10200087-10200088	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139318532	chr4:10200095-10200096	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553309698	chr4:10200107-10200108	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143330095	chr4:10200114-10200115	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374573066	chr4:10200116-10200117	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs78919893	chr4:10200122-10200123	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201883989	chr4:10200137-10200138	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs143655279	chr4:10200138-10200139	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs77678186	chr4:10200139-10200140	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541567078	chr4:10200144-10200145	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs563386186	chr4:10200154-10200155	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs574940167	chr4:10200160-10200161	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545371833	chr4:10200166-10200167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs59683970	chr4:10200177-10200178	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs147545142	chr4:10200184-10200185	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs55775442	chr4:10200204-10200205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs116011106	chr4:10200211-10200212	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs529076772	chr4:10200230-10200231	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs116362153	chr4:10200239-10200240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148502152	chr4:10200266-10200267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141863154	chr4:10200310-10200311	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs552617261	chr4:10200326-10200327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570828699	chr4:10200336-10200337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150637878	chr4:10200362-10200363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs4697729	chr4:10200401-10200402	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs568601185	chr4:10200405-10200406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs115029082	chr4:10200415-10200416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556806670	chr4:10200444-10200445	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs574977879	chr4:10200462-10200463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs139784596	chr4:10200463-10200464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4697730	chr4:10200496-10200497	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs572466562	chr4:10200504-10200505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540200836	chr4:10200515-10200516	Weak transcription Enhancers	Chromatin interactive region	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:80 , 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	chr4:10199600-10200200	Flanking Active TSS	K562	blood
3	chr4:10200000-10200400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:10200200-10202400	Enhancers	K562	blood
5	chr4:10200400-10202400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:10201200-10202000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:10201800-10202000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:10202000-10205000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:10202000-10205400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:10202400-10202600	Flanking Active TSS	K562	blood
11	chr4:10202600-10202800	Enhancers	K562	blood
12	chr4:10202800-10203000	Flanking Active TSS	K562	blood
13	chr4:10202800-10204200	Enhancers	HSMMtube	muscle
14	chr4:10203000-10203200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr4:10203000-10203400	Enhancers	K562	blood
16	chr4:10203200-10203600	Enhancers	HSMM	muscle
17	chr4:10203400-10203600	Flanking Active TSS	K562	blood
18	chr4:10203400-10204200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:10203600-10203800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr4:10203600-10204000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:10203600-10205400	Weak transcription	HSMM	muscle
22	chr4:10203600-10205400	Enhancers	K562	blood
23	chr4:10203800-10204000	Enhancers	HMEC	breast
24	chr4:10204000-10205400	Weak transcription	HMEC	breast
25	chr4:10204000-10205600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:10204200-10204600	Weak transcription	HSMMtube	muscle
27	chr4:10204200-10205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:10204600-10207400	Enhancers	HSMMtube	muscle
29	chr4:10205000-10205600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:10205000-10207800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:10205400-10205800	Enhancers	HMEC	breast
32	chr4:10205400-10206200	Flanking Active TSS	K562	blood
33	chr4:10205400-10206600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:10205400-10206800	Enhancers	HSMM	muscle
35	chr4:10205400-10207200	Enhancers	NHDF-Ad	bronchial
36	chr4:10205600-10205800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:10205600-10205800	Enhancers	Left Ventricle	heart
38	chr4:10205600-10206800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:10205600-10206800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:10205600-10207200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:10205600-10207200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:10206000-10206800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:10206200-10208400	Enhancers	K562	blood
44	chr4:10206400-10206600	Enhancers	Left Ventricle	heart
45	chr4:10206400-10207000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr4:10206400-10207000	Enhancers	Osteobl	bone
47	chr4:10206400-10208000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr4:10207200-10214000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:10207400-10207800	Weak transcription	HSMMtube	muscle
50	chr4:10207800-10210000	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

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