Variant report

Variant	nsv1005286
Chromosome Location	chr4:10229618-10248272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:10241023-10241142	K562	blood:	n/a	n/a
2	ARID3A	chr4:10242016-10242400	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	chr4:10241894-10242416	K562	blood:	n/a	n/a
10	CEBPD	chr4:10241866-10242444	K562	blood:	n/a	n/a
11	CHD2	chr4:10241787-10242039	K562	blood:	n/a	n/a
12	CTCF	chr4:10239880-10240030	AG09309	skin:	n/a	n/a
13	CTCF	chr4:10242115-10242149	K562	blood:	n/a	n/a
14	CTCF	chr4:10240600-10240750	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr4:10239912-10240151	K562	blood:	n/a	n/a
16	CTCF	chr4:10237724-10237763	GM10248	blood:	n/a	n/a
17	CUX1	chr4:10241999-10242285	K562	blood:	n/a	n/a
18	CUX1	chr4:10240929-10241223	K562	blood:	n/a	n/a
19	CUX1	chr4:10231375-10231514	K562	blood:	n/a	n/a
20	CUX1	chr4:10234230-10234432	K562	blood:	n/a	n/a
21	E2F6	chr4:10241829-10242032	K562	blood:	n/a	n/a
22	EP300	chr4:10241567-10242501	K562	blood:	n/a	n/a
23	EP300	chr4:10244403-10244685	K562	blood:	n/a	n/a
24	EP300	chr4:10242062-10242284	K562	blood:	n/a	n/a
25	EP300	chr4:10239972-10240048	K562	blood:	n/a	n/a
26	EP300	chr4:10238758-10238937	K562	blood:	n/a	n/a
27	GATA1	chr4:10241739-10242645	PBDE	blood:	n/a	chr4:10242157-10242164
28	GATA2	chr4:10241945-10242364	K562	blood:	n/a	chr4:10242157-10242164
29	HCFC1	chr4:10241385-10242085	K562	blood:	n/a	n/a
30	HMGN3	chr4:10242009-10242237	K562	blood:	n/a	n/a
31	IRF1	chr4:10241926-10242295	K562	blood:	n/a	n/a
32	JUN	chr4:10241652-10242281	K562	blood:	n/a	n/a
33	JUND	chr4:10241470-10242360	K562	blood:	n/a	n/a
34	JUND	chr4:10242710-10242853	K562	blood:	n/a	n/a
35	MAFF	chr4:10241517-10242261	K562	blood:	n/a	n/a
36	MAFK	chr4:10242014-10242274	K562	blood:	n/a	n/a
37	MAFK	chr4:10241406-10241721	K562	blood:	n/a	n/a
38	MAX	chr4:10241716-10242238	K562	blood:	n/a	n/a
39	MAX	chr4:10241614-10242576	K562	blood:	n/a	n/a
40	MAX	chr4:10241838-10242014	K562	blood:	n/a	n/a
41	MAZ	chr4:10231072-10231075	K562	blood:	n/a	n/a
42	MAZ	chr4:10241608-10242291	K562	blood:	n/a	n/a
43	MXI1	chr4:10241980-10242091	K562	blood:	n/a	n/a
44	MXI1	chr4:10232391-10232431	K562	blood:	n/a	n/a
45	MYC	chr4:10241379-10242327	K562	blood:	n/a	n/a
46	MYC	chr4:10238801-10239026	K562	blood:	n/a	n/a
47	MYC	chr4:10242135-10242146	K562	blood:	n/a	n/a
48	MYC	chr4:10241725-10242477	K562	blood:	n/a	n/a
49	NFYA	chr4:10236531-10236644	GM12878	blood:	n/a	n/a
50	NR2F2	chr4:10241958-10242330	K562	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
2	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
3	chr4:10240628..10243680-chr4:10247596..10249776,3	K562	blood:
4	chr4:10244335..10247662-chr4:10255817..10258798,3	K562	blood:
5	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
6	chr4:10240628..10243680-chr4:10247596..10249776,3	K562	blood:
7	chr4:10236259..10238046-chr4:10240029..10241603,2	K562	blood:
8	chr4:10236259..10238046-chr4:10240029..10241603,2	K562	blood:
9	chr4:10182491..10184302-chr4:10237283..10239761,2	K562	blood:
10	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
11	chr4:10181426..10184302-chr4:10237283..10239761,3	K562	blood:
12	chr4:10174527..10176209-chr4:10240126..10241692,2	K562	blood:
13	chr4:10119817..10121406-chr4:10243789..10245878,2	K562	blood:
14	chr4:10119817..10122040-chr4:10243013..10245878,2	K562	blood:
15	chr4:10234367..10237486-chr4:10239791..10244033,5	K562	blood:
16	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
17	chr4:10181292..10183606-chr4:10239969..10241672,2	K562	blood:
18	chr4:10239005..10240530-chr4:10240711..10243694,2	K562	blood:
19	chr4:10175247..10177327-chr4:10228151..10230198,2	K562	blood:
20	chr4:10242448..10244811-chr4:10340269..10342798,2	K562	blood:
21	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:

No data

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

Extended variants
information (count: 1085 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1085 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527977342	chr4:10229642-10229643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2024285	chr4:10229659-10229660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150491369	chr4:10229674-10229675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138131772	chr4:10229752-10229753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537982034	chr4:10229784-10229785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555996487	chr4:10229787-10229788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115807927	chr4:10229789-10229790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79490160	chr4:10229796-10229797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184917447	chr4:10229817-10229818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538276334	chr4:10229864-10229865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543137328	chr4:10229886-10229887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553694403	chr4:10230024-10230025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146088694	chr4:10230042-10230043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138870452	chr4:10230095-10230096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554388310	chr4:10230114-10230115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13128285	chr4:10230132-10230133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13144578	chr4:10230133-10230134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372600023	chr4:10230229-10230230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190618773	chr4:10230249-10230250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543170764	chr4:10230271-10230272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562842767	chr4:10230285-10230286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376425616	chr4:10230306-10230307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141715309	chr4:10230337-10230338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58661929	chr4:10230367-10230368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115367830	chr4:10230380-10230381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181869360	chr4:10230387-10230388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528040790	chr4:10230408-10230409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115802237	chr4:10230409-10230410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76026697	chr4:10230430-10230431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs55834068	chr4:10230434-10230435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550321130	chr4:10230485-10230486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185212913	chr4:10230504-10230505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538712263	chr4:10230514-10230515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73808656	chr4:10230550-10230551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189888177	chr4:10230616-10230617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530527486	chr4:10230729-10230730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148464516	chr4:10230730-10230731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1004696	chr4:10230756-10230757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571767027	chr4:10230808-10230809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs80355356	chr4:10230885-10230886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575883081	chr4:10230942-10230943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181257564	chr4:10230944-10230945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185315061	chr4:10230989-10230990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74526970	chr4:10230990-10230991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189728886	chr4:10231019-10231020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2110024	chr4:10231033-10231034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs547835072	chr4:10231075-10231076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560327804	chr4:10231081-10231082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539246599	chr4:10231137-10231138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56845179	chr4:10231168-10231169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

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

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10223400-10233800	Weak transcription	K562	blood
2	chr4:10233400-10234600	Enhancers	Rectal Smooth Muscle	rectum
3	chr4:10233800-10234600	Enhancers	K562	blood
4	chr4:10234600-10236400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:10234600-10238600	Weak transcription	K562	blood
6	chr4:10238000-10257000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:10238600-10241800	Enhancers	K562	blood
8	chr4:10239800-10244200	Enhancers	HSMMtube	muscle
9	chr4:10240600-10243600	Enhancers	Fetal Heart	heart
10	chr4:10241000-10241400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:10241200-10243000	Enhancers	Fetal Stomach	stomach
12	chr4:10241400-10242000	Enhancers	Brain Hippocampus Middle	brain
13	chr4:10241800-10242200	Flanking Active TSS	K562	blood
14	chr4:10241800-10242800	Enhancers	Fetal Muscle Leg	muscle
15	chr4:10242000-10242600	Enhancers	Left Ventricle	heart
16	chr4:10242200-10246200	Enhancers	K562	blood
17	chr4:10242400-10242800	Enhancers	Fetal Lung	lung
18	chr4:10243600-10246200	Weak transcription	Fetal Heart	heart
19	chr4:10244000-10255400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:10246200-10246600	Weak transcription	K562	blood
21	chr4:10246400-10246600	Enhancers	Fetal Heart	heart
22	chr4:10246600-10248200	Enhancers	K562	blood
23	chr4:10246800-10248200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr4:10247000-10247200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr4:10247200-10247400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr4:10247400-10247800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr4:10247800-10248000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
28	chr4:10248200-10256800	Weak transcription	K562	blood

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