Variant report

Variant	nsv4230
Chromosome Location	chr4:10198623-10252863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:271)
CpG islands
(count:0)
Chromatin interactive
region (count:55)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:271 , 50 per page) page: 1 2 3 4 5 6

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	chr4:10242016-10242400	K562	blood:	n/a	n/a
4	ARID3A	chr4:10241023-10241142	K562	blood:	n/a	n/a
5	ARID3A	chr4:10206944-10207053	HepG2	liver:	n/a	n/a
6	ATF1	chr4:10199601-10200004	K562	blood:	n/a	n/a
7	ATF1	chr4:10241521-10242349	K562	blood:	n/a	n/a
8	ATF3	chr4:10241484-10241931	K562	blood:	n/a	chr4:10241683-10241696
9	BACH1	chr4:10203548-10203807	K562	blood:	n/a	n/a
10	BACH1	chr4:10236419-10236458	K562	blood:	n/a	n/a
11	BCL3	chr4:10206907-10207282	GM12878	blood:	n/a	n/a
12	BHLHE40	chr4:10207080-10207159	K562	blood:	n/a	n/a
13	BHLHE40	chr4:10241629-10242291	K562	blood:	n/a	n/a
14	BHLHE40	chr4:10239996-10240058	K562	blood:	n/a	n/a
15	BHLHE40	chr4:10205400-10206307	K562	blood:	n/a	n/a
16	BHLHE40	chr4:10199645-10199963	K562	blood:	n/a	n/a
17	BHLHE40	chr4:10215328-10215399	K562	blood:	n/a	n/a
18	BHLHE40	chr4:10202450-10202808	K562	blood:	n/a	n/a
19	CBX3	chr4:10199584-10200081	K562	blood:	n/a	n/a
20	CBX3	chr4:10205085-10205934	K562	blood:	n/a	n/a
21	CBX3	chr4:10202326-10202914	K562	blood:	n/a	n/a
22	CBX3	chr4:10215024-10215411	K562	blood:	n/a	n/a
23	CCNT2	chr4:10205478-10205881	K562	blood:	n/a	n/a
24	CCNT2	chr4:10241954-10242255	K562	blood:	n/a	n/a
25	CEBPB	chr4:10204959-10205937	K562	blood:	n/a	chr4:10205836-10205844 chr4:10205110-10205121
26	CEBPB	chr4:10205485-10205827	K562	blood:	n/a	n/a
27	CEBPB	chr4:10202340-10202672	K562	blood:	n/a	n/a
28	CEBPB	chr4:10204944-10205268	HepG2	liver:	n/a	chr4:10205110-10205121
29	CEBPB	chr4:10207049-10207196	HepG2	liver:	n/a	n/a
30	CEBPD	chr4:10241866-10242444	K562	blood:	n/a	n/a
31	CEBPD	chr4:10241894-10242416	K562	blood:	n/a	n/a
32	CHD2	chr4:10205617-10205911	K562	blood:	n/a	n/a
33	CHD2	chr4:10241787-10242039	K562	blood:	n/a	n/a
34	CTCF	chr4:10251614-10251668	NHEK	skin:	n/a	n/a
35	CTCF	chr4:10251617-10251670	GM19240	blood:	n/a	n/a
36	CTCF	chr4:10228640-10228790	AG10803	skin:	n/a	n/a
37	CTCF	chr4:10251598-10251690	GM12892	blood:	n/a	chr4:10251600-10251608
38	CTCF	chr4:10237724-10237763	GM10248	blood:	n/a	n/a
39	CTCF	chr4:10240600-10240750	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr4:10251611-10251693	MCF-7	breast:	n/a	n/a
41	CTCF	chr4:10251519-10251706	K562	blood:	n/a	chr4:10251600-10251608
42	CTCF	chr4:10250780-10250930	HEK293	kidney:	n/a	chr4:10250894-10250903
43	CTCF	chr4:10228620-10228770	AG10803	skin:	n/a	n/a
44	CTCF	chr4:10251659-10251666	GM19238	blood:	n/a	n/a
45	CTCF	chr4:10251607-10251686	K562	blood:	n/a	n/a
46	CTCF	chr4:10251606-10251683	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr4:10251660-10251810	GM12873	blood:	n/a	n/a
48	CTCF	chr4:10239880-10240030	AG09309	skin:	n/a	n/a
49	CTCF	chr4:10239912-10240151	K562	blood:	n/a	n/a
50	CTCF	chr4:10223320-10223470	GM12871	blood:	n/a	n/a

No data

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:10182716..10185413-chr4:10249318..10252021,2	K562	blood:
2	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
3	chr4:10118238..10121011-chr4:10211759..10213607,2	K562	blood:
4	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
5	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
6	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
7	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
8	chr4:10250648..10253943-chr4:10254760..10258340,4	K562	blood:
9	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:
10	chr4:10119817..10121406-chr4:10243789..10245878,2	K562	blood:
11	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
12	chr4:10118276..10120462-chr4:10220218..10222885,3	K562	blood:
13	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
14	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
15	chr4:10116403..10118365-chr4:10196419..10198714,2	K562	blood:
16	chr4:10226621..10229156-chr4:10309809..10312332,2	K562	blood:
17	chr4:10239005..10240530-chr4:10240711..10243694,2	K562	blood:
18	chr4:10118560..10120526-chr4:10203986..10206288,3	K562	blood:
19	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
20	chr4:10240628..10243680-chr4:10247596..10249776,3	K562	blood:
21	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:
22	chr4:10207125..10208799-chr4:10284967..10286577,2	K562	blood:
23	chr4:10182491..10184302-chr4:10237283..10239761,2	K562	blood:
24	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
25	chr4:10120021..10122735-chr4:10225048..10229120,3	K562	blood:
26	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
27	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
28	chr4:10181426..10184302-chr4:10237283..10239761,3	K562	blood:
29	chr4:10121764..10123838-chr4:10222085..10224894,2	K562	blood:
30	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
31	chr4:10181292..10183606-chr4:10239969..10241672,2	K562	blood:
32	chr4:10249783..10252189-chr4:10254326..10257178,3	K562	blood:
33	chr4:10251447..10253119-chr4:10260352..10263035,2	K562	blood:
34	chr4:10236259..10238046-chr4:10240029..10241603,2	K562	blood:
35	chr4:10174527..10176209-chr4:10240126..10241692,2	K562	blood:
36	chr4:10200377..10202730-chr4:10225143..10227711,2	K562	blood:
37	chr4:10119416..10121988-chr4:10218168..10219976,2	K562	blood:
38	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
39	chr4:10199615..10202739-chr4:10203951..10206560,3	K562	blood:
40	chr4:10242448..10244811-chr4:10340269..10342798,2	K562	blood:
41	chr4:10175247..10177327-chr4:10228151..10230198,2	K562	blood:
42	chr4:10202106..10207051-chr4:10207371..10210794,7	K562	blood:
43	chr4:10236259..10238046-chr4:10240029..10241603,2	K562	blood:
44	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:
45	chr4:10119817..10122040-chr4:10243013..10245878,2	K562	blood:
46	chr4:10240628..10243680-chr4:10247596..10249776,3	K562	blood:
47	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
48	chr4:10234367..10237486-chr4:10239791..10244033,5	K562	blood:
49	chr4:10244335..10247662-chr4:10255817..10258798,3	K562	blood:
50	chr4:10203874..10205718-chr4:10217408..10219978,2	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
ENSG00000271544	TF binding region
ENSG00000223086	chromatin interactions
ENSG00000248777	chromatin interactions
ENSG00000271544	chromatin interactions
ENSG00000250040	chromatin interactions
ENSG00000250573	chromatin interactions
ENSG00000071127	chromatin interactions

Extended variants
information (count: 2946 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2946 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4697968	chr4:10198628-10198629	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs201088985	chr4:10198633-10198634	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs577537829	chr4:10198640-10198641	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs188025850	chr4:10198646-10198647	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs558040032	chr4:10198651-10198652	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs554066676	chr4:10198660-10198661	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs572317118	chr4:10198663-10198664	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs56149813	chr4:10198665-10198666	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562075484	chr4:10198750-10198751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574095304	chr4:10198770-10198771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191668599	chr4:10198783-10198784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199586714	chr4:10198799-10198800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562907636	chr4:10198802-10198803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148135084	chr4:10198821-10198822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183882481	chr4:10198826-10198827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141971342	chr4:10198827-10198828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530871443	chr4:10198843-10198844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527906796	chr4:10198853-10198854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114942751	chr4:10198854-10198855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141032617	chr4:10198873-10198874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537966593	chr4:10198879-10198880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577400376	chr4:10198929-10198930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11732805	chr4:10198932-10198933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs62286284	chr4:10198950-10198951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs538628537	chr4:10198953-10198954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554137919	chr4:10198967-10198968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572356650	chr4:10198969-10198970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536517151	chr4:10198971-10198972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191379358	chr4:10198975-10198976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4697969	chr4:10198981-10198982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs544703575	chr4:10199016-10199017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62286285	chr4:10199025-10199026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs150005418	chr4:10199043-10199044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544977983	chr4:10199058-10199059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185730918	chr4:10199071-10199072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145265906	chr4:10199082-10199083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371532716	chr4:10199083-10199084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549382360	chr4:10199085-10199086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190439377	chr4:10199105-10199106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531769675	chr4:10199123-10199124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34877946	chr4:10199128-10199129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370846356	chr4:10199129-10199130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375829105	chr4:10199130-10199131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11726996	chr4:10199139-10199140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs537360266	chr4:10199144-10199145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114711793	chr4:10199146-10199147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532180040	chr4:10199150-10199151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181747252	chr4:10199169-10199170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576849526	chr4:10199178-10199179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565651135	chr4:10199180-10199181	Weak transcription	n/a	n/a	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10192000-10201200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:10194200-10199200	Weak transcription	K562	blood
3	chr4:10199200-10199600	Enhancers	K562	blood
4	chr4:10199600-10200200	Flanking Active TSS	K562	blood
5	chr4:10200000-10200400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:10200200-10202400	Enhancers	K562	blood
7	chr4:10200400-10202400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:10201200-10202000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:10201800-10202000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:10202000-10205000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:10202000-10205400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:10202400-10202600	Flanking Active TSS	K562	blood
13	chr4:10202600-10202800	Enhancers	K562	blood
14	chr4:10202800-10203000	Flanking Active TSS	K562	blood
15	chr4:10202800-10204200	Enhancers	HSMMtube	muscle
16	chr4:10203000-10203200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr4:10203000-10203400	Enhancers	K562	blood
18	chr4:10203200-10203600	Enhancers	HSMM	muscle
19	chr4:10203400-10203600	Flanking Active TSS	K562	blood
20	chr4:10203400-10204200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:10203600-10203800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr4:10203600-10204000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:10203600-10205400	Weak transcription	HSMM	muscle
24	chr4:10203600-10205400	Enhancers	K562	blood
25	chr4:10203800-10204000	Enhancers	HMEC	breast
26	chr4:10204000-10205400	Weak transcription	HMEC	breast
27	chr4:10204000-10205600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:10204200-10204600	Weak transcription	HSMMtube	muscle
29	chr4:10204200-10205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:10204600-10207400	Enhancers	HSMMtube	muscle
31	chr4:10205000-10205600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:10205000-10207800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:10205400-10205800	Enhancers	HMEC	breast
34	chr4:10205400-10206200	Flanking Active TSS	K562	blood
35	chr4:10205400-10206600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:10205400-10206800	Enhancers	HSMM	muscle
37	chr4:10205400-10207200	Enhancers	NHDF-Ad	bronchial
38	chr4:10205600-10205800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:10205600-10205800	Enhancers	Left Ventricle	heart
40	chr4:10205600-10206800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:10205600-10206800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:10205600-10207200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:10205600-10207200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:10206000-10206800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:10206200-10208400	Enhancers	K562	blood
46	chr4:10206400-10206600	Enhancers	Left Ventricle	heart
47	chr4:10206400-10207000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr4:10206400-10207000	Enhancers	Osteobl	bone
49	chr4:10206400-10208000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:10207200-10214000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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