Variant report

Variant	esv1811222
Chromosome Location	chr4:10191040-10235231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:256)
CpG islands
(count:0)
Chromatin interactive
region (count:40)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:256 , 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	chr4:10206944-10207053	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:10206912-10207070	K562	blood:	n/a	n/a
3	ARID3A	chr4:10202441-10202778	K562	blood:	n/a	n/a
4	ATF1	chr4:10199601-10200004	K562	blood:	n/a	n/a
5	BACH1	chr4:10203548-10203807	K562	blood:	n/a	n/a
6	BCL3	chr4:10191805-10192054	GM12878	blood:	n/a	n/a
7	BCL3	chr4:10206907-10207282	GM12878	blood:	n/a	n/a
8	BHLHE40	chr4:10199645-10199963	K562	blood:	n/a	n/a
9	BHLHE40	chr4:10202450-10202808	K562	blood:	n/a	n/a
10	BHLHE40	chr4:10207080-10207159	K562	blood:	n/a	n/a
11	BHLHE40	chr4:10215328-10215399	K562	blood:	n/a	n/a
12	BHLHE40	chr4:10193880-10194273	K562	blood:	n/a	n/a
13	BHLHE40	chr4:10205400-10206307	K562	blood:	n/a	n/a
14	CBX3	chr4:10202326-10202914	K562	blood:	n/a	n/a
15	CBX3	chr4:10205085-10205934	K562	blood:	n/a	n/a
16	CBX3	chr4:10199584-10200081	K562	blood:	n/a	n/a
17	CBX3	chr4:10215024-10215411	K562	blood:	n/a	n/a
18	CCNT2	chr4:10205478-10205881	K562	blood:	n/a	n/a
19	CEBPB	chr4:10204959-10205937	K562	blood:	n/a	chr4:10205836-10205844 chr4:10205110-10205121
20	CEBPB	chr4:10195806-10195900	HepG2	liver:	n/a	n/a
21	CEBPB	chr4:10207049-10207196	HepG2	liver:	n/a	n/a
22	CEBPB	chr4:10204944-10205268	HepG2	liver:	n/a	chr4:10205110-10205121
23	CEBPB	chr4:10205485-10205827	K562	blood:	n/a	n/a
24	CEBPB	chr4:10195735-10195985	A549	lung:	n/a	n/a
25	CEBPB	chr4:10202340-10202672	K562	blood:	n/a	n/a
26	CHD2	chr4:10205617-10205911	K562	blood:	n/a	n/a
27	CTCF	chr4:10194102-10194249	K562	blood:	n/a	n/a
28	CTCF	chr4:10194138-10194195	ProgFib	skin:	n/a	n/a
29	CTCF	chr4:10194120-10194270	HMEC	breast:	n/a	n/a
30	CTCF	chr4:10191600-10191750	GM12871	blood:	n/a	n/a
31	CTCF	chr4:10193400-10193550	HMEC	breast:	n/a	n/a
32	CTCF	chr4:10194143-10194240	MCF-7	breast:	n/a	n/a
33	CTCF	chr4:10194142-10194222	GM12878	blood:	n/a	n/a
34	CTCF	chr4:10194142-10194209	GM19239	blood:	n/a	n/a
35	CTCF	chr4:10206160-10206310	AoAF	blood vessel:	n/a	n/a
36	CTCF	chr4:10228640-10228790	AG10803	skin:	n/a	n/a
37	CTCF	chr4:10194140-10194290	AG10803	skin:	n/a	n/a
38	CTCF	chr4:10194124-10194240	GM12878	blood:	n/a	n/a
39	CTCF	chr4:10194100-10194250	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr4:10194057-10194318	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr4:10194128-10194212	GM13977	blood:	n/a	n/a
42	CTCF	chr4:10194002-10194363	K562	blood:	n/a	n/a
43	CTCF	chr4:10193420-10193570	NHEK	skin:	n/a	n/a
44	CTCF	chr4:10193420-10193570	K562	blood:	n/a	n/a
45	CTCF	chr4:10193321-10193622	K562	blood:	n/a	n/a
46	CTCF	chr4:10194160-10194310	HCFaa	heart:	n/a	n/a
47	CTCF	chr4:10194120-10194270	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr4:10194100-10194250	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr4:10223320-10223470	GM12871	blood:	n/a	n/a
50	CTCF	chr4:10197776-10197817	LNCaP	prostate:	n/a	n/a

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10120021..10122735-chr4:10225048..10229120,3	K562	blood:
2	chr4:10193717..10194647-chr4:10527846..10528670,2	MCF-7	breast:
3	chr4:10114665..10116599-chr4:10227448..10229354,2	K562	blood:
4	chr4:10118560..10120526-chr4:10203986..10206288,3	K562	blood:
5	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:
6	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
7	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:
8	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
9	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
10	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
11	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
12	chr4:10118162..10120785-chr4:10200742..10203933,4	K562	blood:
13	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
14	chr4:10119416..10121988-chr4:10218168..10219976,2	K562	blood:
15	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
16	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:
17	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
18	chr4:10116403..10118365-chr4:10196419..10198714,2	K562	blood:
19	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
20	chr4:10194015..10194637-chr4:10405680..10406337,2	MCF-7	breast:
21	chr4:10202106..10207051-chr4:10207371..10210794,7	K562	blood:
22	chr4:10175247..10177327-chr4:10228151..10230198,2	K562	blood:
23	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
24	chr4:10118276..10120462-chr4:10220218..10222885,3	K562	blood:
25	chr4:10226621..10229156-chr4:10309809..10312332,2	K562	blood:
26	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
27	chr4:10118238..10121011-chr4:10211759..10213607,2	K562	blood:
28	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
29	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
30	chr4:10234367..10237486-chr4:10239791..10244033,5	K562	blood:
31	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
32	chr4:10121764..10123838-chr4:10222085..10224894,2	K562	blood:
33	chr4:10117656..10120785-chr4:10200069..10203011,5	K562	blood:
34	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
35	chr4:10207125..10208799-chr4:10284967..10286577,2	K562	blood:
36	chr4:10117378..10119328-chr4:10192047..10193702,2	K562	blood:
37	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
38	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
39	chr4:10200377..10202730-chr4:10225143..10227711,2	K562	blood:
40	chr4:10199615..10202739-chr4:10203951..10206560,3	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	chromatin interactions
ENSG00000248777	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000223086	chromatin interactions

Extended variants
information (count: 2251 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2251 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6844061	chr4:10191049-10191050	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576024952	chr4:10191071-10191072	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533040998	chr4:10191105-10191106	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140621926	chr4:10191109-10191110	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77358841	chr4:10191138-10191139	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192813215	chr4:10191180-10191181	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184127422	chr4:10191183-10191184	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140642311	chr4:10191192-10191193	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372562656	chr4:10191214-10191215	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150839733	chr4:10191251-10191252	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35006026	chr4:10191254-10191255	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201321428	chr4:10191256-10191257	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397807246	chr4:10191258-10191259	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371407135	chr4:10191259-10191260	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553439538	chr4:10191266-10191267	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568449349	chr4:10191289-10191290	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535894935	chr4:10191309-10191310	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557379780	chr4:10191316-10191317	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189104355	chr4:10191320-10191321	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575677692	chr4:10191328-10191329	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529547359	chr4:10191361-10191362	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551016206	chr4:10191377-10191378	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144155086	chr4:10191383-10191384	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370947434	chr4:10191396-10191397	Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193038547	chr4:10191403-10191404	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569564260	chr4:10191419-10191420	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147358712	chr4:10191424-10191425	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551841359	chr4:10191441-10191442	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184613185	chr4:10191447-10191448	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189060402	chr4:10191462-10191463	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56083324	chr4:10191496-10191497	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs528934097	chr4:10191500-10191501	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs58510992	chr4:10191512-10191513	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78744177	chr4:10191513-10191514	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200980009	chr4:10191515-10191516	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566968949	chr4:10191547-10191548	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543838592	chr4:10191550-10191551	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562160118	chr4:10191597-10191598	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532737107	chr4:10191604-10191605	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74855047	chr4:10191608-10191609	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566606682	chr4:10191609-10191610	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181503949	chr4:10191622-10191623	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114875790	chr4:10191655-10191656	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568566092	chr4:10191663-10191664	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534291906	chr4:10191686-10191687	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10016136	chr4:10191699-10191700	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538431579	chr4:10191701-10191702	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184146459	chr4:10191720-10191721	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148420432	chr4:10191731-10191732	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76428314	chr4:10191738-10191739	Weak transcription Genic enhancers	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10184000-10194200	Weak transcription	HMEC	breast
2	chr4:10187400-10191800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:10188800-10194000	Weak transcription	Fetal Heart	heart
4	chr4:10190400-10192200	Genic enhancers	K562	blood
5	chr4:10190800-10191200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:10191200-10191400	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr4:10191800-10192000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:10191800-10192000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:10191800-10192200	Enhancers	Right Ventricle	heart
10	chr4:10192000-10201200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:10192200-10193000	Weak transcription	K562	blood
12	chr4:10193000-10194200	Enhancers	K562	blood
13	chr4:10193800-10194200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr4:10193800-10194400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr4:10193800-10194400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:10194000-10194400	Enhancers	Fetal Heart	heart
17	chr4:10194200-10194400	Enhancers	HMEC	breast
18	chr4:10194200-10199200	Weak transcription	K562	blood
19	chr4:10199200-10199600	Enhancers	K562	blood
20	chr4:10199600-10200200	Flanking Active TSS	K562	blood
21	chr4:10200000-10200400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:10200200-10202400	Enhancers	K562	blood
23	chr4:10200400-10202400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:10201200-10202000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:10201800-10202000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:10202000-10205000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:10202000-10205400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:10202400-10202600	Flanking Active TSS	K562	blood
29	chr4:10202600-10202800	Enhancers	K562	blood
30	chr4:10202800-10203000	Flanking Active TSS	K562	blood
31	chr4:10202800-10204200	Enhancers	HSMMtube	muscle
32	chr4:10203000-10203200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:10203000-10203400	Enhancers	K562	blood
34	chr4:10203200-10203600	Enhancers	HSMM	muscle
35	chr4:10203400-10203600	Flanking Active TSS	K562	blood
36	chr4:10203400-10204200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:10203600-10203800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr4:10203600-10204000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:10203600-10205400	Weak transcription	HSMM	muscle
40	chr4:10203600-10205400	Enhancers	K562	blood
41	chr4:10203800-10204000	Enhancers	HMEC	breast
42	chr4:10204000-10205400	Weak transcription	HMEC	breast
43	chr4:10204000-10205600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:10204200-10204600	Weak transcription	HSMMtube	muscle
45	chr4:10204200-10205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:10204600-10207400	Enhancers	HSMMtube	muscle
47	chr4:10205000-10205600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:10205000-10207800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:10205400-10205800	Enhancers	HMEC	breast
50	chr4:10205400-10206200	Flanking Active TSS	K562	blood

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