Variant report

Variant	nsv593705
Chromosome Location	chr4:10211247-10240663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:10236419-10236458	K562	blood:	n/a	n/a
2	BHLHE40	chr4:10239996-10240058	K562	blood:	n/a	n/a
3	BHLHE40	chr4:10215328-10215399	K562	blood:	n/a	n/a
4	CBX3	chr4:10215024-10215411	K562	blood:	n/a	n/a
5	CTCF	chr4:10239880-10240030	AG09309	skin:	n/a	n/a
6	CTCF	chr4:10239912-10240151	K562	blood:	n/a	n/a
7	CTCF	chr4:10228620-10228770	AG10803	skin:	n/a	n/a
8	CTCF	chr4:10228640-10228790	AG10803	skin:	n/a	n/a
9	CTCF	chr4:10240600-10240750	HEEpiC	esophagus:	n/a	n/a
10	CTCF	chr4:10237724-10237763	GM10248	blood:	n/a	n/a
11	CTCF	chr4:10223320-10223470	GM12871	blood:	n/a	n/a
12	CUX1	chr4:10231375-10231514	K562	blood:	n/a	n/a
13	CUX1	chr4:10234230-10234432	K562	blood:	n/a	n/a
14	CUX1	chr4:10216907-10216974	K562	blood:	n/a	n/a
15	EP300	chr4:10228752-10228903	GM12878	blood:	n/a	n/a
16	EP300	chr4:10215339-10215503	K562	blood:	n/a	n/a
17	EP300	chr4:10222976-10223159	K562	blood:	n/a	n/a
18	EP300	chr4:10239972-10240048	K562	blood:	n/a	n/a
19	EP300	chr4:10238758-10238937	K562	blood:	n/a	n/a
20	FOS	chr4:10211872-10212674	HUVEC	blood vessel:	n/a	chr4:10212308-10212316
21	FOS	chr4:10213970-10214925	HUVEC	blood vessel:	n/a	chr4:10214267-10214278
22	GATA2	chr4:10214031-10214970	HUVEC	blood vessel:	n/a	n/a
23	IRF1	chr4:10215187-10215269	K562	blood:	n/a	n/a
24	JUND	chr4:10224432-10224665	K562	blood:	n/a	n/a
25	JUND	chr4:10211444-10211544	K562	blood:	n/a	n/a
26	JUND	chr4:10215062-10215157	K562	blood:	n/a	n/a
27	KAP1	chr4:10214572-10215026	K562	blood:	n/a	n/a
28	MAFK	chr4:10216198-10216247	K562	blood:	n/a	n/a
29	MAFK	chr4:10222826-10223090	K562	blood:	n/a	n/a
30	MAZ	chr4:10231072-10231075	K562	blood:	n/a	n/a
31	MXI1	chr4:10232391-10232431	K562	blood:	n/a	n/a
32	MYC	chr4:10215161-10215345	K562	blood:	n/a	n/a
33	MYC	chr4:10238801-10239026	K562	blood:	n/a	n/a
34	NFYA	chr4:10236531-10236644	GM12878	blood:	n/a	n/a
35	POLR2A	chr4:10240306-10240414	GM12878	blood:	n/a	n/a
36	RCOR1	chr4:10222862-10223122	K562	blood:	n/a	n/a
37	RCOR1	chr4:10238777-10238966	K562	blood:	n/a	n/a
38	RCOR1	chr4:10215278-10215402	K562	blood:	n/a	n/a
39	REST	chr4:10235790-10235948	K562	blood:	n/a	n/a
40	RUNX3	chr4:10227172-10227464	GM12878	blood:	n/a	n/a
41	RUNX3	chr4:10226730-10227090	GM12878	blood:	n/a	n/a
42	SP1	chr4:10215095-10215327	HepG2	liver:	n/a	n/a
43	SPI1	chr4:10226701-10227058	GM12891	blood:	n/a	chr4:10226752-10226759 chr4:10226750-10226763 chr4:10226948-10226955
44	SPI1	chr4:10226853-10227011	K562	blood:	n/a	chr4:10226948-10226955
45	SPI1	chr4:10226835-10227060	GM12891	blood:	n/a	chr4:10226948-10226955
46	SPI1	chr4:10226807-10227042	GM12878	blood:	n/a	chr4:10226948-10226955
47	TRIM28	chr4:10215127-10215413	K562	blood:	n/a	n/a
48	UBTF	chr4:10221852-10221984	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
2	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
3	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
4	chr4:10181292..10183606-chr4:10239969..10241672,2	K562	blood:
5	chr4:10118276..10120462-chr4:10220218..10222885,3	K562	blood:
6	chr4:10175247..10177327-chr4:10228151..10230198,2	K562	blood:
7	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:
8	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
9	chr4:10114665..10116599-chr4:10227448..10229354,2	K562	blood:
10	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
11	chr4:10226621..10229156-chr4:10309809..10312332,2	K562	blood:
12	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
13	chr4:10121764..10123838-chr4:10222085..10224894,2	K562	blood:
14	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
15	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
16	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
17	chr4:10240628..10243680-chr4:10247596..10249776,3	K562	blood:
18	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
19	chr4:10200377..10202730-chr4:10225143..10227711,2	K562	blood:
20	chr4:10236259..10238046-chr4:10240029..10241603,2	K562	blood:
21	chr4:10119416..10121988-chr4:10218168..10219976,2	K562	blood:
22	chr4:10181426..10184302-chr4:10237283..10239761,3	K562	blood:
23	chr4:10182491..10184302-chr4:10237283..10239761,2	K562	blood:
24	chr4:10174527..10176209-chr4:10240126..10241692,2	K562	blood:
25	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
26	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
27	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
28	chr4:10120021..10122735-chr4:10225048..10229120,3	K562	blood:
29	chr4:10118238..10121011-chr4:10211759..10213607,2	K562	blood:
30	chr4:10236259..10238046-chr4:10240029..10241603,2	K562	blood:
31	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
32	chr4:10234367..10237486-chr4:10239791..10244033,5	K562	blood:
33	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271544	TF binding region
ENSG00000071127	chromatin interactions
ENSG00000248777	chromatin interactions
ENSG00000271544	chromatin interactions

Extended variants
information (count: 1148 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1148 , 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	rs11931780	chr4:10211247-10211248	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375136410	chr4:10211267-10211268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73222539	chr4:10211268-10211269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148960155	chr4:10211318-10211319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555573235	chr4:10211377-10211378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75665699	chr4:10211402-10211403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528904835	chr4:10211450-10211451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535900712	chr4:10211524-10211525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182142650	chr4:10211543-10211544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143531349	chr4:10211561-10211562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546116876	chr4:10211578-10211579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs57879946	chr4:10211609-10211610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576502321	chr4:10211677-10211678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73092196	chr4:10211825-10211826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185104200	chr4:10211865-10211866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541076298	chr4:10211902-10211903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562264824	chr4:10211919-10211920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138096484	chr4:10211925-10211926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs143678248	chr4:10211929-10211930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs61142980	chr4:10211933-10211934	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562371105	chr4:10211944-10211945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138941614	chr4:10211971-10211972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141127813	chr4:10212009-10212010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368477801	chr4:10212077-10212078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188650729	chr4:10212149-10212150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs150724676	chr4:10212252-10212253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs57376186	chr4:10212257-10212258	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567444457	chr4:10212287-10212288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs62286315	chr4:10212293-10212294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557405489	chr4:10212299-10212300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181261572	chr4:10212387-10212388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539466657	chr4:10212430-10212431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs58447316	chr4:10212434-10212435	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573206420	chr4:10212518-10212519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs139074622	chr4:10212559-10212560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553174927	chr4:10212626-10212627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149480162	chr4:10212662-10212663	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185322921	chr4:10212667-10212668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73092202	chr4:10212715-10212716	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs544006170	chr4:10212822-10212823	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574916044	chr4:10212832-10212833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs562911498	chr4:10212870-10212871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374129558	chr4:10212871-10212872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189739515	chr4:10212888-10212889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs200618015	chr4:10212889-10212890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs374814321	chr4:10212923-10212924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs180670606	chr4:10212990-10212991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187655586	chr4:10213050-10213051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs73093905	chr4:10213070-10213071	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560149219	chr4:10213110-10213111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10207200-10214000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:10207800-10214600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:10211200-10212200	Enhancers	K562	blood
4	chr4:10212000-10212200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:10212000-10212200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:10212000-10212400	Enhancers	HUVEC	blood vessel
7	chr4:10212200-10214800	Weak transcription	K562	blood
8	chr4:10212400-10213600	Weak transcription	HUVEC	blood vessel
9	chr4:10213600-10214200	Enhancers	HUVEC	blood vessel
10	chr4:10213600-10214800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:10213600-10215000	Enhancers	NHEK	skin
12	chr4:10213800-10214000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:10214000-10215000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:10214600-10215200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:10214800-10215400	Enhancers	K562	blood
16	chr4:10215200-10215600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:10215400-10219400	Weak transcription	K562	blood
18	chr4:10215600-10216200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:10216200-10220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:10219400-10220000	Enhancers	K562	blood
21	chr4:10220000-10222400	Weak transcription	K562	blood
22	chr4:10222400-10223400	Enhancers	K562	blood
23	chr4:10223400-10233800	Weak transcription	K562	blood
24	chr4:10225800-10227600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr4:10226000-10227400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr4:10226400-10227000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr4:10228000-10228400	Enhancers	Osteobl	bone
28	chr4:10228000-10229000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:10228200-10229000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr4:10233400-10234600	Enhancers	Rectal Smooth Muscle	rectum
31	chr4:10233800-10234600	Enhancers	K562	blood
32	chr4:10234600-10236400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:10234600-10238600	Weak transcription	K562	blood
34	chr4:10238000-10257000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:10238600-10241800	Enhancers	K562	blood
36	chr4:10239800-10244200	Enhancers	HSMMtube	muscle
37	chr4:10240600-10243600	Enhancers	Fetal Heart	heart

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