Variant report

Variant	nsv437910
Chromosome Location	chr4:10218641-10247248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:10242016-10242400	K562	blood:	n/a	n/a
2	ARID3A	chr4:10241023-10241142	K562	blood:	n/a	n/a
3	ATF1	chr4:10241521-10242349	K562	blood:	n/a	n/a
4	ATF3	chr4:10241484-10241931	K562	blood:	n/a	chr4:10241683-10241696
5	BACH1	chr4:10236419-10236458	K562	blood:	n/a	n/a
6	BHLHE40	chr4:10241629-10242291	K562	blood:	n/a	n/a
7	BHLHE40	chr4:10239996-10240058	K562	blood:	n/a	n/a
8	CCNT2	chr4:10241954-10242255	K562	blood:	n/a	n/a
9	CEBPD	chr4:10241866-10242444	K562	blood:	n/a	n/a
10	CEBPD	chr4:10241894-10242416	K562	blood:	n/a	n/a
11	CHD2	chr4:10241787-10242039	K562	blood:	n/a	n/a
12	CTCF	chr4:10223320-10223470	GM12871	blood:	n/a	n/a
13	CTCF	chr4:10228640-10228790	AG10803	skin:	n/a	n/a
14	CTCF	chr4:10237724-10237763	GM10248	blood:	n/a	n/a
15	CTCF	chr4:10228620-10228770	AG10803	skin:	n/a	n/a
16	CTCF	chr4:10242115-10242149	K562	blood:	n/a	n/a
17	CTCF	chr4:10239912-10240151	K562	blood:	n/a	n/a
18	CTCF	chr4:10240600-10240750	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr4:10239880-10240030	AG09309	skin:	n/a	n/a
20	CUX1	chr4:10241999-10242285	K562	blood:	n/a	n/a
21	CUX1	chr4:10234230-10234432	K562	blood:	n/a	n/a
22	CUX1	chr4:10231375-10231514	K562	blood:	n/a	n/a
23	CUX1	chr4:10240929-10241223	K562	blood:	n/a	n/a
24	E2F6	chr4:10241829-10242032	K562	blood:	n/a	n/a
25	EP300	chr4:10242062-10242284	K562	blood:	n/a	n/a
26	EP300	chr4:10238758-10238937	K562	blood:	n/a	n/a
27	EP300	chr4:10222976-10223159	K562	blood:	n/a	n/a
28	EP300	chr4:10228752-10228903	GM12878	blood:	n/a	n/a
29	EP300	chr4:10241567-10242501	K562	blood:	n/a	n/a
30	EP300	chr4:10244403-10244685	K562	blood:	n/a	n/a
31	EP300	chr4:10239972-10240048	K562	blood:	n/a	n/a
32	GATA1	chr4:10241739-10242645	PBDE	blood:	n/a	chr4:10242157-10242164
33	GATA2	chr4:10241945-10242364	K562	blood:	n/a	chr4:10242157-10242164
34	HCFC1	chr4:10241385-10242085	K562	blood:	n/a	n/a
35	HMGN3	chr4:10242009-10242237	K562	blood:	n/a	n/a
36	IRF1	chr4:10241926-10242295	K562	blood:	n/a	n/a
37	JUN	chr4:10241652-10242281	K562	blood:	n/a	n/a
38	JUND	chr4:10242710-10242853	K562	blood:	n/a	n/a
39	JUND	chr4:10241470-10242360	K562	blood:	n/a	n/a
40	JUND	chr4:10224432-10224665	K562	blood:	n/a	n/a
41	MAFF	chr4:10241517-10242261	K562	blood:	n/a	n/a
42	MAFK	chr4:10222826-10223090	K562	blood:	n/a	n/a
43	MAFK	chr4:10241406-10241721	K562	blood:	n/a	n/a
44	MAFK	chr4:10242014-10242274	K562	blood:	n/a	n/a
45	MAX	chr4:10241838-10242014	K562	blood:	n/a	n/a
46	MAX	chr4:10241614-10242576	K562	blood:	n/a	n/a
47	MAX	chr4:10241716-10242238	K562	blood:	n/a	n/a
48	MAZ	chr4:10231072-10231075	K562	blood:	n/a	n/a
49	MAZ	chr4:10241608-10242291	K562	blood:	n/a	n/a
50	MXI1	chr4:10241980-10242091	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:10119416..10121988-chr4:10218168..10219976,2	K562	blood:
2	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
3	chr4:10236259..10238046-chr4:10240029..10241603,2	K562	blood:
4	chr4:10114665..10116599-chr4:10227448..10229354,2	K562	blood:
5	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
6	chr4:10119817..10122040-chr4:10243013..10245878,2	K562	blood:
7	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
8	chr4:10174527..10176209-chr4:10240126..10241692,2	K562	blood:
9	chr4:10239005..10240530-chr4:10240711..10243694,2	K562	blood:
10	chr4:10181426..10184302-chr4:10237283..10239761,3	K562	blood:
11	chr4:10244335..10247662-chr4:10255817..10258798,3	K562	blood:
12	chr4:10236259..10238046-chr4:10240029..10241603,2	K562	blood:
13	chr4:10118276..10120462-chr4:10220218..10222885,3	K562	blood:
14	chr4:10181292..10183606-chr4:10239969..10241672,2	K562	blood:
15	chr4:10242448..10244811-chr4:10340269..10342798,2	K562	blood:
16	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
17	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
18	chr4:10175247..10177327-chr4:10228151..10230198,2	K562	blood:
19	chr4:10120021..10122735-chr4:10225048..10229120,3	K562	blood:
20	chr4:10234367..10237486-chr4:10239791..10244033,5	K562	blood:
21	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
22	chr4:10119817..10121406-chr4:10243789..10245878,2	K562	blood:
23	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
24	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
25	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
26	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
27	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:
28	chr4:10240628..10243680-chr4:10247596..10249776,3	K562	blood:
29	chr4:10226621..10229156-chr4:10309809..10312332,2	K562	blood:
30	chr4:10182491..10184302-chr4:10237283..10239761,2	K562	blood:
31	chr4:10121764..10123838-chr4:10222085..10224894,2	K562	blood:
32	chr4:10200377..10202730-chr4:10225143..10227711,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271544	TF binding region
ENSG00000248777	chromatin interactions
ENSG00000250040	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000271544	chromatin interactions

Extended variants
information (count: 1367 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1367 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6833902	chr4:10218641-10218642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569110726	chr4:10218648-10218649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183030025	chr4:10218706-10218707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555829839	chr4:10218777-10218778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374684234	chr4:10218892-10218893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113975188	chr4:10218944-10218945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185856661	chr4:10219038-10219039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539917559	chr4:10219064-10219065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144512601	chr4:10219068-10219069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148344955	chr4:10219084-10219085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190182351	chr4:10219087-10219088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542192268	chr4:10219113-10219114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546031649	chr4:10219151-10219152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563654469	chr4:10219178-10219179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28454591	chr4:10219202-10219203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs112005207	chr4:10219290-10219291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76428493	chr4:10219296-10219297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80277164	chr4:10219297-10219298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201661218	chr4:10219306-10219307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6846236	chr4:10219307-10219308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs112089633	chr4:10219308-10219309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201755356	chr4:10219309-10219310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192580675	chr4:10219374-10219375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183916670	chr4:10219421-10219422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528867663	chr4:10219425-10219426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187541071	chr4:10219431-10219432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569174562	chr4:10219439-10219440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533218774	chr4:10219443-10219444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13102834	chr4:10219461-10219462	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566668135	chr4:10219476-10219477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534834465	chr4:10219492-10219493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139412263	chr4:10219505-10219506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535864524	chr4:10219584-10219585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556890656	chr4:10219594-10219595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575543613	chr4:10219718-10219719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192273538	chr4:10219734-10219735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75128529	chr4:10219768-10219769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559193666	chr4:10219818-10219819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73093933	chr4:10219872-10219873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs77829831	chr4:10219909-10219910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28779787	chr4:10219934-10219935	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs78432201	chr4:10219936-10219937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140751577	chr4:10220058-10220059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28589699	chr4:10220139-10220140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184290048	chr4:10220144-10220145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34335843	chr4:10220209-10220210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188666740	chr4:10220236-10220237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs73808963	chr4:10220238-10220239	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs145786555	chr4:10220247-10220248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs6449372	chr4:10220267-10220268	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

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

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10215400-10219400	Weak transcription	K562	blood
2	chr4:10216200-10220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:10219400-10220000	Enhancers	K562	blood
4	chr4:10220000-10222400	Weak transcription	K562	blood
5	chr4:10222400-10223400	Enhancers	K562	blood
6	chr4:10223400-10233800	Weak transcription	K562	blood
7	chr4:10225800-10227600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:10226000-10227400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr4:10226400-10227000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr4:10228000-10228400	Enhancers	Osteobl	bone
11	chr4:10228000-10229000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:10228200-10229000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:10233400-10234600	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:10233800-10234600	Enhancers	K562	blood
15	chr4:10234600-10236400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:10234600-10238600	Weak transcription	K562	blood
17	chr4:10238000-10257000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:10238600-10241800	Enhancers	K562	blood
19	chr4:10239800-10244200	Enhancers	HSMMtube	muscle
20	chr4:10240600-10243600	Enhancers	Fetal Heart	heart
21	chr4:10241000-10241400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:10241200-10243000	Enhancers	Fetal Stomach	stomach
23	chr4:10241400-10242000	Enhancers	Brain Hippocampus Middle	brain
24	chr4:10241800-10242200	Flanking Active TSS	K562	blood
25	chr4:10241800-10242800	Enhancers	Fetal Muscle Leg	muscle
26	chr4:10242000-10242600	Enhancers	Left Ventricle	heart
27	chr4:10242200-10246200	Enhancers	K562	blood
28	chr4:10242400-10242800	Enhancers	Fetal Lung	lung
29	chr4:10243600-10246200	Weak transcription	Fetal Heart	heart
30	chr4:10244000-10255400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:10246200-10246600	Weak transcription	K562	blood
32	chr4:10246400-10246600	Enhancers	Fetal Heart	heart
33	chr4:10246600-10248200	Enhancers	K562	blood
34	chr4:10246800-10248200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr4:10247000-10247200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr4:10247200-10247400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links