Variant report

Variant	nsv1013360
Chromosome Location	chr4:10223836-10264888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	ARID3A	chr4:10258670-10258802	K562	blood:	n/a	n/a
4	ATF1	chr4:10241521-10242349	K562	blood:	n/a	n/a
5	ATF3	chr4:10241484-10241931	K562	blood:	n/a	chr4:10241683-10241696
6	BACH1	chr4:10236419-10236458	K562	blood:	n/a	n/a
7	BACH1	chr4:10258150-10258286	K562	blood:	n/a	n/a
8	BHLHE40	chr4:10258626-10258818	K562	blood:	n/a	n/a
9	BHLHE40	chr4:10241629-10242291	K562	blood:	n/a	n/a
10	BHLHE40	chr4:10257932-10258036	K562	blood:	n/a	n/a
11	BHLHE40	chr4:10239996-10240058	K562	blood:	n/a	n/a
12	CCNT2	chr4:10241954-10242255	K562	blood:	n/a	n/a
13	CEBPB	chr4:10255615-10255721	K562	blood:	n/a	n/a
14	CEBPD	chr4:10241866-10242444	K562	blood:	n/a	n/a
15	CEBPD	chr4:10241894-10242416	K562	blood:	n/a	n/a
16	CHD2	chr4:10256718-10256724	K562	blood:	n/a	n/a
17	CHD2	chr4:10241787-10242039	K562	blood:	n/a	n/a
18	CTCF	chr4:10262460-10262610	BJ	skin:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
19	CTCF	chr4:10262480-10262630	GM12870	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
20	CTCF	chr4:10262600-10262750	HMEC	breast:	n/a	n/a
21	CTCF	chr4:10262640-10262790	GM12872	blood:	n/a	n/a
22	CTCF	chr4:10262440-10262590	GM12874	blood:	n/a	chr4:10262578-10262587
23	CTCF	chr4:10258780-10258930	K562	blood:	n/a	chr4:10258785-10258803 chr4:10258780-10258801 chr4:10258790-10258798
24	CTCF	chr4:10251598-10251690	GM12892	blood:	n/a	chr4:10251600-10251608
25	CTCF	chr4:10262480-10262630	GM06990	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
26	CTCF	chr4:10262540-10262690	GM12871	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
27	CTCF	chr4:10251607-10251686	K562	blood:	n/a	n/a
28	CTCF	chr4:10251617-10251670	GM19240	blood:	n/a	n/a
29	CTCF	chr4:10239880-10240030	AG09309	skin:	n/a	n/a
30	CTCF	chr4:10262500-10262650	SAEC	small airway:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
31	CTCF	chr4:10262415-10262691	K562	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
32	CTCF	chr4:10262540-10262690	GM12873	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
33	CTCF	chr4:10262460-10262610	GM12872	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
34	CTCF	chr4:10240600-10240750	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr4:10262480-10262630	WERI-Rb-1	eye:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
36	CTCF	chr4:10262555-10262621	MCF-7	breast:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
37	CTCF	chr4:10249760-10249910	NHEK	skin:	n/a	n/a
38	CTCF	chr4:10258720-10258870	HEK293	kidney:	n/a	chr4:10258785-10258803 chr4:10258780-10258801 chr4:10258790-10258798
39	CTCF	chr4:10262396-10262667	H1-hESC	embryonic stem cell:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
40	CTCF	chr4:10262540-10262690	GM12864	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
41	CTCF	chr4:10262560-10262710	GM12864	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
42	CTCF	chr4:10262280-10262430	GM12871	blood:	n/a	n/a
43	CTCF	chr4:10262600-10262750	GM12873	blood:	n/a	n/a
44	CTCF	chr4:10262480-10262630	HCT-116	colon:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
45	CTCF	chr4:10258700-10258850	GM12873	blood:	n/a	chr4:10258785-10258803 chr4:10258780-10258801 chr4:10258790-10258798
46	CTCF	chr4:10262532-10262673	NHEK	skin:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
47	CTCF	chr4:10239912-10240151	K562	blood:	n/a	n/a
48	CTCF	chr4:10262453-10262662	HepG2	liver:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
49	CTCF	chr4:10262480-10262630	GM12878	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
50	CTCF	chr4:10262528-10262612	GM19240	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598

No.	Distal block	Cell Line	Cell type
1	chr4:10175247..10177327-chr4:10228151..10230198,2	K562	blood:
2	chr4:10242448..10244811-chr4:10340269..10342798,2	K562	blood:
3	chr4:10182716..10185413-chr4:10249318..10252021,2	K562	blood:
4	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
5	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
6	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
7	chr4:10254361..10256671-chr4:10262474..10264248,2	K562	blood:
8	chr4:10250648..10253943-chr4:10254760..10258340,4	K562	blood:
9	chr4:10182491..10184302-chr4:10237283..10239761,2	K562	blood:
10	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
11	chr4:10236259..10238046-chr4:10240029..10241603,2	K562	blood:
12	chr4:10121764..10123838-chr4:10222085..10224894,2	K562	blood:
13	chr4:10254662..10256804-chr4:10260995..10262728,2	K562	blood:
14	chr4:10234367..10237486-chr4:10239791..10244033,5	K562	blood:
15	chr4:10200377..10202730-chr4:10225143..10227711,2	K562	blood:
16	chr4:10255171..10260191-chr4:10262748..10268904,8	K562	blood:
17	chr4:10117355..10119664-chr4:10257217..10260454,4	K562	blood:
18	chr4:10117842..10119536-chr4:10257217..10259311,2	K562	blood:
19	chr4:10240628..10243680-chr4:10247596..10249776,3	K562	blood:
20	chr4:10181292..10183606-chr4:10239969..10241672,2	K562	blood:
21	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
22	chr4:10240628..10243680-chr4:10247596..10249776,3	K562	blood:
23	chr4:10254361..10256671-chr4:10262474..10264248,2	K562	blood:
24	chr4:10244335..10247662-chr4:10255817..10258798,3	K562	blood:
25	chr4:10120021..10122735-chr4:10225048..10229120,3	K562	blood:
26	chr4:10251447..10253119-chr4:10260352..10263035,2	K562	blood:
27	chr4:10174527..10176209-chr4:10240126..10241692,2	K562	blood:
28	chr4:10119817..10121406-chr4:10243789..10245878,2	K562	blood:
29	chr4:10181426..10184302-chr4:10237283..10239761,3	K562	blood:
30	chr4:10262775..10265010-chr4:10265780..10268025,2	K562	blood:
31	chr4:10249783..10252189-chr4:10254326..10257178,3	K562	blood:
32	chr4:10236259..10238046-chr4:10240029..10241603,2	K562	blood:
33	chr4:10226621..10229156-chr4:10309809..10312332,2	K562	blood:
34	chr4:10249783..10252189-chr4:10254326..10257178,3	K562	blood:
35	chr4:10119817..10122040-chr4:10243013..10245878,2	K562	blood:
36	chr4:10171115..10173658-chr4:10254307..10257090,2	K562	blood:
37	chr4:10181799..10184639-chr4:10262185..10264664,2	K562	blood:
38	chr4:10114665..10116599-chr4:10227448..10229354,2	K562	blood:
39	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:
40	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
41	chr4:10239005..10240530-chr4:10240711..10243694,2	K562	blood:
42	chr4:10257186..10261463-chr4:10263373..10268480,7	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR1-10	chr4:10261069-10261762	NONHSAT095491
2	lnc-WDR1-9	chr4:10256550-10258245	NONHSAT095490

Variant related genes	Relation type
ENSG00000271544	TF binding region
ENSG00000250040	TF binding region
ENSG00000250573	TF binding region
ENSG00000250573	chromatin interactions
ENSG00000271544	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000250040	chromatin interactions
ENSG00000248777	chromatin interactions
ENSG00000223086	chromatin interactions

Extended variants
information (count: 2433 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2433 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74663740	chr4:10223900-10223901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543085749	chr4:10223953-10223954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76421336	chr4:10223988-10223989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73093950	chr4:10224041-10224042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs77067038	chr4:10224075-10224076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143045964	chr4:10224083-10224084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190786578	chr4:10224113-10224114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150839973	chr4:10224146-10224147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73093952	chr4:10224212-10224213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs139306982	chr4:10224272-10224273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559879574	chr4:10224310-10224311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529777041	chr4:10224311-10224312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182828220	chr4:10224373-10224374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6825947	chr4:10224408-10224409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75570248	chr4:10224441-10224442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551729190	chr4:10224457-10224458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149922988	chr4:10224469-10224470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531471176	chr4:10224489-10224490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549642780	chr4:10224494-10224495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73093954	chr4:10224532-10224533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187906897	chr4:10224533-10224534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28459565	chr4:10224556-10224557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192417624	chr4:10224623-10224624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547123099	chr4:10224706-10224707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145007536	chr4:10224714-10224715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183151741	chr4:10224720-10224721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78504429	chr4:10224743-10224744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139937088	chr4:10224755-10224756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34202446	chr4:10224767-10224768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78812075	chr4:10224771-10224772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559739349	chr4:10224822-10224823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146770444	chr4:10224827-10224828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548331348	chr4:10224850-10224851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370627177	chr4:10224917-10224918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187438629	chr4:10224965-10224966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140213498	chr4:10224970-10224971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555969353	chr4:10225000-10225001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193031912	chr4:10225014-10225015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73093956	chr4:10225021-10225022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184789275	chr4:10225059-10225060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189833514	chr4:10225112-10225113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62286317	chr4:10225162-10225163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538478743	chr4:10225187-10225188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs116498515	chr4:10225270-10225271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs201134907	chr4:10225276-10225277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs33927201	chr4:10225318-10225319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143404250	chr4:10225319-10225320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs10691854	chr4:10225329-10225330	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557163329	chr4:10225350-10225351	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs56306116	chr4:10225408-10225409	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10223400-10233800	Weak transcription	K562	blood
2	chr4:10225800-10227600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:10226000-10227400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr4:10226400-10227000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr4:10228000-10228400	Enhancers	Osteobl	bone
6	chr4:10228000-10229000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:10228200-10229000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:10233400-10234600	Enhancers	Rectal Smooth Muscle	rectum
9	chr4:10233800-10234600	Enhancers	K562	blood
10	chr4:10234600-10236400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:10234600-10238600	Weak transcription	K562	blood
12	chr4:10238000-10257000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:10238600-10241800	Enhancers	K562	blood
14	chr4:10239800-10244200	Enhancers	HSMMtube	muscle
15	chr4:10240600-10243600	Enhancers	Fetal Heart	heart
16	chr4:10241000-10241400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:10241200-10243000	Enhancers	Fetal Stomach	stomach
18	chr4:10241400-10242000	Enhancers	Brain Hippocampus Middle	brain
19	chr4:10241800-10242200	Flanking Active TSS	K562	blood
20	chr4:10241800-10242800	Enhancers	Fetal Muscle Leg	muscle
21	chr4:10242000-10242600	Enhancers	Left Ventricle	heart
22	chr4:10242200-10246200	Enhancers	K562	blood
23	chr4:10242400-10242800	Enhancers	Fetal Lung	lung
24	chr4:10243600-10246200	Weak transcription	Fetal Heart	heart
25	chr4:10244000-10255400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:10246200-10246600	Weak transcription	K562	blood
27	chr4:10246400-10246600	Enhancers	Fetal Heart	heart
28	chr4:10246600-10248200	Enhancers	K562	blood
29	chr4:10246800-10248200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr4:10247000-10247200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr4:10247200-10247400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr4:10247400-10247800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr4:10247800-10248000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr4:10248200-10256800	Weak transcription	K562	blood
35	chr4:10254800-10257200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:10255000-10255200	Enhancers	Fetal Thymus	thymus
37	chr4:10255000-10256400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:10255000-10256600	Enhancers	NHEK	skin
39	chr4:10255200-10256400	Enhancers	HMEC	breast
40	chr4:10255400-10256000	Weak transcription	Fetal Thymus	thymus
41	chr4:10255400-10256400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:10256000-10256200	Enhancers	Fetal Thymus	thymus
43	chr4:10256200-10261800	Weak transcription	Fetal Thymus	thymus
44	chr4:10256400-10261600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:10256400-10261800	Weak transcription	HMEC	breast
46	chr4:10256600-10261200	Weak transcription	NHEK	skin
47	chr4:10256800-10257000	Enhancers	K562	blood
48	chr4:10257000-10257400	Weak transcription	K562	blood
49	chr4:10257000-10257600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:10257200-10261200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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