Variant report

Variant	esv1838765
Chromosome Location	chr4:187093557-187100384
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	CTCF	chr4:187095502-187095528	GM20000	blood:	n/a	n/a
2	JUND	chr4:187093683-187093888	HepG2	liver:	n/a	chr4:187093824-187093833
3	SETDB1	chr4:187099517-187099891	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:187091730..187094624-chr4:187097179..187100415,3	MCF-7	breast:
2	chr4:187098304..187101860-chr4:187110284..187112773,3	K562	blood:
3	chr4:187092687..187094578-chr4:187097251..187099352,2	MCF-7	breast:
4	chr4:187092687..187094578-chr4:187097251..187099352,2	MCF-7	breast:
5	chr4:187092198..187094078-chr4:187111646..187113279,2	MCF-7	breast:

Variant related genes	Relation type
ORAOV1P1	TF binding region
ENSG00000269302	chromatin interactions
ENSG00000251008	chromatin interactions
ENSG00000145476	chromatin interactions

Extended variants
information (count: 262 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34932393	chr4:187093616-187093617	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs547015586	chr4:187093669-187093670	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs554642111	chr4:187093670-187093671	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs566527252	chr4:187093700-187093701	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs201679072	chr4:187093719-187093720	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs574428212	chr4:187093755-187093756	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs191336072	chr4:187093803-187093804	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs183651082	chr4:187093804-187093805	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs34809182	chr4:187093856-187093857	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs139275845	chr4:187093875-187093876	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs114689708	chr4:187093877-187093878	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs576168093	chr4:187093888-187093889	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs556855375	chr4:187093889-187093890	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs188479173	chr4:187093919-187093920	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs192467523	chr4:187093962-187093963	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs146147580	chr4:187093996-187093997	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs149979981	chr4:187094047-187094048	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184768637	chr4:187094068-187094069	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs145165537	chr4:187094140-187094141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565550446	chr4:187094222-187094223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531210063	chr4:187094288-187094289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111401250	chr4:187094312-187094313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143649703	chr4:187094377-187094378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530257642	chr4:187094423-187094424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546728411	chr4:187094504-187094505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201015854	chr4:187094515-187094516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187979282	chr4:187094547-187094548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538616074	chr4:187094558-187094559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112813515	chr4:187094576-187094577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571238455	chr4:187094610-187094611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7685209	chr4:187094621-187094622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557162050	chr4:187094635-187094636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567346058	chr4:187094653-187094654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377034486	chr4:187094654-187094655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532635882	chr4:187094692-187094693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553069203	chr4:187094702-187094703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74466539	chr4:187094716-187094717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191238209	chr4:187094725-187094726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545049817	chr4:187094741-187094742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558570046	chr4:187094788-187094789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143624096	chr4:187094791-187094792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541376608	chr4:187094800-187094801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542000432	chr4:187094802-187094803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560053842	chr4:187094839-187094840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375908738	chr4:187094847-187094848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs118139997	chr4:187094873-187094874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563644916	chr4:187094884-187094885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184387040	chr4:187094893-187094894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35841069	chr4:187094912-187094913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540739204	chr4:187094921-187094922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17086460	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187080000-187094000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:187080200-187094000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:187081000-187099200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:187082000-187095000	Weak transcription	Fetal Brain Male	brain
5	chr4:187090200-187094800	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:187090600-187095000	Weak transcription	Fetal Brain Female	brain
7	chr4:187092400-187094200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:187093200-187094000	Enhancers	Duodenum Mucosa	Duodenum
9	chr4:187094000-187094200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr4:187099200-187099600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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