Variant report

Variant	esv996489
Chromosome Location	chr4:10192625-10205115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:157)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:157 , 50 per page) page: 1 2 3 4

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	ATF1	chr4:10199601-10200004	K562	blood:	n/a	n/a
3	BACH1	chr4:10203548-10203807	K562	blood:	n/a	n/a
4	BHLHE40	chr4:10193880-10194273	K562	blood:	n/a	n/a
5	BHLHE40	chr4:10199645-10199963	K562	blood:	n/a	n/a
6	BHLHE40	chr4:10202450-10202808	K562	blood:	n/a	n/a
7	CBX3	chr4:10202326-10202914	K562	blood:	n/a	n/a
8	CBX3	chr4:10205085-10205934	K562	blood:	n/a	n/a
9	CBX3	chr4:10199584-10200081	K562	blood:	n/a	n/a
10	CEBPB	chr4:10204959-10205937	K562	blood:	n/a	chr4:10205836-10205844 chr4:10205110-10205121
11	CEBPB	chr4:10204944-10205268	HepG2	liver:	n/a	chr4:10205110-10205121
12	CEBPB	chr4:10195806-10195900	HepG2	liver:	n/a	n/a
13	CEBPB	chr4:10202340-10202672	K562	blood:	n/a	n/a
14	CEBPB	chr4:10195735-10195985	A549	lung:	n/a	n/a
15	CTCF	chr4:10194142-10194222	GM12878	blood:	n/a	n/a
16	CTCF	chr4:10194120-10194270	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr4:10194124-10194240	GM12878	blood:	n/a	n/a
18	CTCF	chr4:10193420-10193570	NHEK	skin:	n/a	n/a
19	CTCF	chr4:10194002-10194363	K562	blood:	n/a	n/a
20	CTCF	chr4:10194080-10194230	HMEC	breast:	n/a	n/a
21	CTCF	chr4:10194100-10194250	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr4:10194140-10194290	AG09309	skin:	n/a	n/a
23	CTCF	chr4:10194142-10194209	GM19239	blood:	n/a	n/a
24	CTCF	chr4:10194120-10194270	HEEpiC	esophagus:	n/a	n/a
25	CTCF	chr4:10194180-10194330	HCM	heart:	n/a	n/a
26	CTCF	chr4:10194060-10194210	NHEK	skin:	n/a	n/a
27	CTCF	chr4:10194003-10194282	MCF-7	breast:	n/a	n/a
28	CTCF	chr4:10194102-10194249	K562	blood:	n/a	n/a
29	CTCF	chr4:10194128-10194212	GM13977	blood:	n/a	n/a
30	CTCF	chr4:10194113-10194154	LNCaP	prostate:	n/a	n/a
31	CTCF	chr4:10194120-10194270	NHEK	skin:	n/a	n/a
32	CTCF	chr4:10193321-10193622	K562	blood:	n/a	n/a
33	CTCF	chr4:10193420-10193570	K562	blood:	n/a	n/a
34	CTCF	chr4:10194160-10194310	HCFaa	heart:	n/a	n/a
35	CTCF	chr4:10194140-10194290	AG10803	skin:	n/a	n/a
36	CTCF	chr4:10194127-10194258	HepG2	liver:	n/a	n/a
37	CTCF	chr4:10194160-10194310	RPTEC	kidney:	n/a	n/a
38	CTCF	chr4:10194100-10194250	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr4:10194057-10194318	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr4:10194120-10194270	HMEC	breast:	n/a	n/a
41	CTCF	chr4:10202324-10202720	K562	blood:	n/a	n/a
42	CTCF	chr4:10194058-10194320	NHEK	skin:	n/a	n/a
43	CTCF	chr4:10194080-10194230	RPTEC	kidney:	n/a	n/a
44	CTCF	chr4:10194138-10194195	ProgFib	skin:	n/a	n/a
45	CTCF	chr4:10194027-10194325	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr4:10193400-10193550	HMEC	breast:	n/a	n/a
47	CTCF	chr4:10197776-10197817	LNCaP	prostate:	n/a	n/a
48	CTCF	chr4:10194120-10194270	SAEC	small airway:	n/a	n/a
49	CTCF	chr4:10194143-10194240	MCF-7	breast:	n/a	n/a
50	CTCF	chr4:10194140-10194290	SAEC	small airway:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10194015..10194637-chr4:10405680..10406337,2	MCF-7	breast:
2	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:
3	chr4:10118162..10120785-chr4:10200742..10203933,4	K562	blood:
4	chr4:10193717..10194647-chr4:10527846..10528670,2	MCF-7	breast:
5	chr4:10116403..10118365-chr4:10196419..10198714,2	K562	blood:
6	chr4:10117378..10119328-chr4:10192047..10193702,2	K562	blood:
7	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
8	chr4:10118560..10120526-chr4:10203986..10206288,3	K562	blood:
9	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:
10	chr4:10117656..10120785-chr4:10200069..10203011,5	K562	blood:
11	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
ENSG00000071127	chromatin interactions
ENSG00000248777	chromatin interactions
ENSG00000223086	chromatin interactions

Extended variants
information (count: 934 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:934 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142911145	chr4:10192631-10192632	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs531866430	chr4:10192642-10192643	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550024941	chr4:10192663-10192664	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs13150848	chr4:10192673-10192674	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs191029606	chr4:10192720-10192721	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs539186080	chr4:10192724-10192725	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553628321	chr4:10192728-10192729	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565766072	chr4:10192739-10192740	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs6449351	chr4:10192744-10192745	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs370096439	chr4:10192755-10192756	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs115494529	chr4:10192759-10192760	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs147440424	chr4:10192761-10192762	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543762598	chr4:10192811-10192812	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs386671614	chr4:10192820-10192821	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs58369594	chr4:10192822-10192823	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541209361	chr4:10192825-10192826	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs560426002	chr4:10192838-10192839	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs527761493	chr4:10192892-10192893	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs74938481	chr4:10192967-10192968	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs527751752	chr4:10193037-10193038	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs547908219	chr4:10193039-10193040	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs560959944	chr4:10193058-10193059	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs374413608	chr4:10193079-10193080	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs182926451	chr4:10193080-10193081	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs560464848	chr4:10193097-10193098	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs201143650	chr4:10193098-10193099	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs569619064	chr4:10193102-10193103	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs187680359	chr4:10193109-10193110	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs192657290	chr4:10193117-10193118	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs111301921	chr4:10193138-10193139	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532645348	chr4:10193149-10193150	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs547949504	chr4:10193162-10193163	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs565673811	chr4:10193175-10193176	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs6819084	chr4:10193178-10193179	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs554678040	chr4:10193186-10193187	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201899600	chr4:10193201-10193202	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs569670672	chr4:10193215-10193216	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs537005550	chr4:10193220-10193221	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs558617673	chr4:10193226-10193227	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs577063561	chr4:10193235-10193236	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs2159866	chr4:10193236-10193237	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183420032	chr4:10193284-10193285	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs2159865	chr4:10193287-10193288	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs537628059	chr4:10193310-10193311	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs542731741	chr4:10193322-10193323	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs187743195	chr4:10193328-10193329	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs192102636	chr4:10193341-10193342	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs139014950	chr4:10193365-10193366	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs545793948	chr4:10193407-10193408	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs565470831	chr4:10193409-10193410	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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:41 , 50 per page) page: 1

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

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