Variant report

Variant	esv2502619
Chromosome Location	chr4:69959402-69960860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr4:69959220-69959407	GM12878	blood:	n/a	n/a
2	EP300	chr4:69960670-69962557	A549	lung:	n/a	chr4:69962195-69962209 chr4:69961953-69961967
3	EP300	chr4:69960845-69961678	A549	lung:	n/a	n/a
4	FOS	chr4:69959530-69959658	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr4:69960830-69961566	HUVEC	blood vessel:	n/a	n/a
6	FOSL2	chr4:69960798-69962386	A549	lung:	n/a	n/a
7	FOXA2	chr4:69960708-69962644	HepG2	liver:	n/a	chr4:69962097-69962109
8	GATA3	chr4:69960681-69962562	A549	lung:	n/a	n/a
9	MAFK	chr4:69960841-69961585	HepG2	liver:	n/a	chr4:69961068-69961083
10	MYC	chr4:69960351-69960393	MCF10A-Er-Src	breast:	n/a	n/a
11	NFIC	chr4:69960825-69962606	HepG2	liver:	n/a	n/a
12	SP1	chr4:69960803-69961516	A549	lung:	n/a	n/a
13	SP1	chr4:69960708-69961661	A549	lung:	n/a	n/a
14	STAT3	chr4:69959605-69959620	MCF10A-Er-Src	breast:	n/a	n/a
15	TBL1XR1	chr4:69960349-69960361	GM12878	blood:	n/a	n/a
16	TCF12	chr4:69960624-69962518	A549	lung:	n/a	n/a

Variant related genes	Relation type
UGT2B7	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28458345	chr4:69959418-69959419	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562273325	chr4:69959422-69959423	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531020631	chr4:69959438-69959439	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147801498	chr4:69959443-69959444	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7437039	chr4:69959476-69959477	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140163040	chr4:69959493-69959494	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147846895	chr4:69959565-69959566	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs114180170	chr4:69959590-69959591	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372778356	chr4:69959593-69959594	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs7439792	chr4:69959599-69959600	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs189415725	chr4:69959616-69959617	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555392406	chr4:69959659-69959660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575358816	chr4:69959677-69959678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537650589	chr4:69959693-69959694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558031456	chr4:69959705-69959706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577804324	chr4:69959734-69959735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79423425	chr4:69959754-69959755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553782706	chr4:69959761-69959762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13118991	chr4:69959764-69959765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573570038	chr4:69959782-69959783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180682704	chr4:69959789-69959790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562245782	chr4:69959803-69959804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150317160	chr4:69959814-69959815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368101127	chr4:69959815-69959816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369707355	chr4:69959837-69959838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531281810	chr4:69959844-69959845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138316705	chr4:69959847-69959848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200141882	chr4:69959849-69959850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200908563	chr4:69959850-69959851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201723882	chr4:69959851-69959852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199990438	chr4:69959852-69959853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201120598	chr4:69959853-69959854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs202158877	chr4:69959854-69959855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71204074	chr4:69959875-69959876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371486938	chr4:69959889-69959890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544388801	chr4:69959958-69959959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564372300	chr4:69960162-69960163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533228798	chr4:69960163-69960164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200486722	chr4:69960164-69960165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201342087	chr4:69960165-69960166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529282699	chr4:69960199-69960200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116604766	chr4:69960206-69960207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62296944	chr4:69960210-69960211	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185118881	chr4:69960274-69960275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190066888	chr4:69960294-69960295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369911759	chr4:69960343-69960344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573163244	chr4:69960347-69960348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144909815	chr4:69960349-69960350	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs571495804	chr4:69960378-69960379	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs371994195	chr4:69960380-69960381	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69957400-69959600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:69957400-69960000	Enhancers	NHEK	skin
3	chr4:69957600-69959800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:69958000-69960800	Weak transcription	HUVEC	blood vessel
5	chr4:69958200-69961000	Weak transcription	HMEC	breast
6	chr4:69958400-69961800	Weak transcription	Osteobl	bone
7	chr4:69958800-69959600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:69958800-69959600	Enhancers	NH-A	brain
9	chr4:69959000-69959600	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr4:69959200-69959600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:69959200-69961000	Enhancers	A549	lung
12	chr4:69959400-69959600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:69959400-69959600	Enhancers	HepG2	liver
14	chr4:69959400-69960400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:69959400-69960800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:69959600-69960000	Weak transcription	HepG2	liver
17	chr4:69959600-69960400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:69959600-69960800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:69959600-69960800	Weak transcription	Fetal Intestine Small	intestine
20	chr4:69959600-69960800	Weak transcription	NH-A	brain
21	chr4:69959600-69980000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:69959800-69960200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:69960000-69960400	Weak transcription	NHEK	skin
24	chr4:69960000-69962000	Enhancers	HepG2	liver
25	chr4:69960200-69962600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:69960400-69960600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:69960400-69960800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:69960400-69962200	Enhancers	Fetal Intestine Large	intestine
29	chr4:69960400-69962400	Enhancers	NHEK	skin
30	chr4:69960600-69961000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:69960800-69961200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr4:69960800-69961200	Enhancers	Pancreas	Pancrea
33	chr4:69960800-69961400	Enhancers	Liver	Liver
34	chr4:69960800-69961600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:69960800-69961600	Enhancers	NH-A	brain
36	chr4:69960800-69961800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr4:69960800-69961800	Enhancers	Duodenum Mucosa	Duodenum
38	chr4:69960800-69962000	Enhancers	HSMM	muscle
39	chr4:69960800-69962200	Enhancers	Fetal Intestine Small	intestine
40	chr4:69960800-69962400	Enhancers	HUVEC	blood vessel
41	chr4:69960800-69962600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:69960800-69962600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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