Variant report

Variant	esv1812062
Chromosome Location	chr4:10194269-10235231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:219)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:219 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:10202441-10202778	K562	blood:	n/a	n/a
2	ARID3A	chr4:10206944-10207053	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:10206912-10207070	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	chr4:10206907-10207282	GM12878	blood:	n/a	n/a
7	BHLHE40	chr4:10205400-10206307	K562	blood:	n/a	n/a
8	BHLHE40	chr4:10207080-10207159	K562	blood:	n/a	n/a
9	BHLHE40	chr4:10215328-10215399	K562	blood:	n/a	n/a
10	BHLHE40	chr4:10199645-10199963	K562	blood:	n/a	n/a
11	BHLHE40	chr4:10193880-10194273	K562	blood:	n/a	n/a
12	BHLHE40	chr4:10202450-10202808	K562	blood:	n/a	n/a
13	CBX3	chr4:10199584-10200081	K562	blood:	n/a	n/a
14	CBX3	chr4:10215024-10215411	K562	blood:	n/a	n/a
15	CBX3	chr4:10202326-10202914	K562	blood:	n/a	n/a
16	CBX3	chr4:10205085-10205934	K562	blood:	n/a	n/a
17	CCNT2	chr4:10205478-10205881	K562	blood:	n/a	n/a
18	CEBPB	chr4:10204959-10205937	K562	blood:	n/a	chr4:10205836-10205844 chr4:10205110-10205121
19	CEBPB	chr4:10195735-10195985	A549	lung:	n/a	n/a
20	CEBPB	chr4:10202340-10202672	K562	blood:	n/a	n/a
21	CEBPB	chr4:10207049-10207196	HepG2	liver:	n/a	n/a
22	CEBPB	chr4:10205485-10205827	K562	blood:	n/a	n/a
23	CEBPB	chr4:10195806-10195900	HepG2	liver:	n/a	n/a
24	CEBPB	chr4:10204944-10205268	HepG2	liver:	n/a	chr4:10205110-10205121
25	CHD2	chr4:10205617-10205911	K562	blood:	n/a	n/a
26	CTCF	chr4:10194120-10194270	SAEC	small airway:	n/a	n/a
27	CTCF	chr4:10197776-10197817	LNCaP	prostate:	n/a	n/a
28	CTCF	chr4:10194120-10194270	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr4:10202324-10202720	K562	blood:	n/a	n/a
30	CTCF	chr4:10194120-10194270	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr4:10194140-10194290	AG09309	skin:	n/a	n/a
32	CTCF	chr4:10194120-10194270	HMEC	breast:	n/a	n/a
33	CTCF	chr4:10206160-10206310	AoAF	blood vessel:	n/a	n/a
34	CTCF	chr4:10194140-10194290	AG10803	skin:	n/a	n/a
35	CTCF	chr4:10194027-10194325	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr4:10194002-10194363	K562	blood:	n/a	n/a
37	CTCF	chr4:10194057-10194318	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr4:10228620-10228770	AG10803	skin:	n/a	n/a
39	CTCF	chr4:10194058-10194320	NHEK	skin:	n/a	n/a
40	CTCF	chr4:10228640-10228790	AG10803	skin:	n/a	n/a
41	CTCF	chr4:10194180-10194330	HCM	heart:	n/a	n/a
42	CTCF	chr4:10194160-10194310	HCFaa	heart:	n/a	n/a
43	CTCF	chr4:10194140-10194290	SAEC	small airway:	n/a	n/a
44	CTCF	chr4:10223320-10223470	GM12871	blood:	n/a	n/a
45	CTCF	chr4:10194003-10194282	MCF-7	breast:	n/a	n/a
46	CTCF	chr4:10194160-10194310	RPTEC	kidney:	n/a	n/a
47	CTCF	chr4:10194120-10194270	NHEK	skin:	n/a	n/a
48	CUX1	chr4:10216907-10216974	K562	blood:	n/a	n/a
49	CUX1	chr4:10202470-10203041	K562	blood:	n/a	n/a
50	CUX1	chr4:10234230-10234432	K562	blood:	n/a	n/a

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10199615..10202739-chr4:10203951..10206560,3	K562	blood:
2	chr4:10202106..10207051-chr4:10207371..10210794,7	K562	blood:
3	chr4:10120021..10122735-chr4:10225048..10229120,3	K562	blood:
4	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
5	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:
6	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:
7	chr4:10118238..10121011-chr4:10211759..10213607,2	K562	blood:
8	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
9	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
10	chr4:10119416..10121988-chr4:10218168..10219976,2	K562	blood:
11	chr4:10121764..10123838-chr4:10222085..10224894,2	K562	blood:
12	chr4:10114665..10116599-chr4:10227448..10229354,2	K562	blood:
13	chr4:10193717..10194647-chr4:10527846..10528670,2	MCF-7	breast:
14	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
15	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
16	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
17	chr4:10118276..10120462-chr4:10220218..10222885,3	K562	blood:
18	chr4:10234367..10237486-chr4:10239791..10244033,5	K562	blood:
19	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
20	chr4:10200377..10202730-chr4:10225143..10227711,2	K562	blood:
21	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
22	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
23	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
24	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
25	chr4:10118560..10120526-chr4:10203986..10206288,3	K562	blood:
26	chr4:10194015..10194637-chr4:10405680..10406337,2	MCF-7	breast:
27	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
28	chr4:10116403..10118365-chr4:10196419..10198714,2	K562	blood:
29	chr4:10226621..10229156-chr4:10309809..10312332,2	K562	blood:
30	chr4:10207125..10208799-chr4:10284967..10286577,2	K562	blood:
31	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
32	chr4:10118162..10120785-chr4:10200742..10203933,4	K562	blood:
33	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
34	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
35	chr4:10175247..10177327-chr4:10228151..10230198,2	K562	blood:
36	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
37	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:
38	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
39	chr4:10117656..10120785-chr4:10200069..10203011,5	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
ENSG00000071127	chromatin interactions
ENSG00000271544	chromatin interactions
ENSG00000223086	chromatin interactions
ENSG00000248777	chromatin interactions

Extended variants
information (count: 2025 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2025 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6832085	chr4:10194270-10194271	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559873530	chr4:10194275-10194276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116779297	chr4:10194287-10194288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553387346	chr4:10194300-10194301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386671616	chr4:10194302-10194303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542558491	chr4:10194303-10194304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557638649	chr4:10194316-10194317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575802407	chr4:10194324-10194325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548856650	chr4:10194328-10194329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546079327	chr4:10194334-10194335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374085095	chr4:10194354-10194355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76850735	chr4:10194377-10194378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372805259	chr4:10194398-10194399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539908925	chr4:10194406-10194407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561369576	chr4:10194408-10194409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560483316	chr4:10194412-10194413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550471373	chr4:10194419-10194420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527664131	chr4:10194422-10194423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148071271	chr4:10194469-10194470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141607487	chr4:10194495-10194496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570958667	chr4:10194496-10194497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534821176	chr4:10194499-10194500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6826383	chr4:10194504-10194505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs568466533	chr4:10194516-10194517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535806732	chr4:10194522-10194523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191521374	chr4:10194549-10194550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575828397	chr4:10194558-10194559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567644132	chr4:10194559-10194560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549594418	chr4:10194578-10194579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540062047	chr4:10194579-10194580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76656042	chr4:10194586-10194587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368117302	chr4:10194610-10194611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150510343	chr4:10194611-10194612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11732380	chr4:10194628-10194629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs117242533	chr4:10194656-10194657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537452023	chr4:10194689-10194690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139500388	chr4:10194707-10194708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562828134	chr4:10194761-10194762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78552853	chr4:10194859-10194860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551617940	chr4:10194872-10194873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11727128	chr4:10194891-10194892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs117608286	chr4:10194893-10194894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146223007	chr4:10194894-10194895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568556251	chr4:10194920-10194921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140117711	chr4:10194930-10194931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550980518	chr4:10194944-10194945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183128584	chr4:10194952-10194953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531265950	chr4:10194954-10194955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112596202	chr4:10194958-10194959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62286281	chr4:10194973-10194974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10192000-10201200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:10193800-10194400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:10193800-10194400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:10194000-10194400	Enhancers	Fetal Heart	heart
5	chr4:10194200-10194400	Enhancers	HMEC	breast
6	chr4:10194200-10199200	Weak transcription	K562	blood
7	chr4:10199200-10199600	Enhancers	K562	blood
8	chr4:10199600-10200200	Flanking Active TSS	K562	blood
9	chr4:10200000-10200400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:10200200-10202400	Enhancers	K562	blood
11	chr4:10200400-10202400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:10201200-10202000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:10201800-10202000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:10202000-10205000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:10202000-10205400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:10202400-10202600	Flanking Active TSS	K562	blood
17	chr4:10202600-10202800	Enhancers	K562	blood
18	chr4:10202800-10203000	Flanking Active TSS	K562	blood
19	chr4:10202800-10204200	Enhancers	HSMMtube	muscle
20	chr4:10203000-10203200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr4:10203000-10203400	Enhancers	K562	blood
22	chr4:10203200-10203600	Enhancers	HSMM	muscle
23	chr4:10203400-10203600	Flanking Active TSS	K562	blood
24	chr4:10203400-10204200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:10203600-10203800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr4:10203600-10204000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:10203600-10205400	Weak transcription	HSMM	muscle
28	chr4:10203600-10205400	Enhancers	K562	blood
29	chr4:10203800-10204000	Enhancers	HMEC	breast
30	chr4:10204000-10205400	Weak transcription	HMEC	breast
31	chr4:10204000-10205600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:10204200-10204600	Weak transcription	HSMMtube	muscle
33	chr4:10204200-10205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:10204600-10207400	Enhancers	HSMMtube	muscle
35	chr4:10205000-10205600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:10205000-10207800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:10205400-10205800	Enhancers	HMEC	breast
38	chr4:10205400-10206200	Flanking Active TSS	K562	blood
39	chr4:10205400-10206600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:10205400-10206800	Enhancers	HSMM	muscle
41	chr4:10205400-10207200	Enhancers	NHDF-Ad	bronchial
42	chr4:10205600-10205800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:10205600-10205800	Enhancers	Left Ventricle	heart
44	chr4:10205600-10206800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:10205600-10206800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:10205600-10207200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:10205600-10207200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:10206000-10206800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:10206200-10208400	Enhancers	K562	blood
50	chr4:10206400-10206600	Enhancers	Left Ventricle	heart

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