Variant report

Variant	esv1799974
Chromosome Location	chr4:172985760-172992876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:172988137..172989930-chr4:172993221..172995055,2	K562	blood:

Extended variants
information (count: 242 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1394859	chr4:172985760-172985761	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200454887	chr4:172985789-172985790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116220158	chr4:172985872-172985873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549897242	chr4:172985911-172985912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72698971	chr4:172985915-172985916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539858201	chr4:172986036-172986037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113038343	chr4:172986104-172986105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554004291	chr4:172986118-172986119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550259710	chr4:172986133-172986134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150887654	chr4:172986238-172986239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533115016	chr4:172986264-172986265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200450896	chr4:172986322-172986323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546858928	chr4:172986326-172986327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188135738	chr4:172986398-172986399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181050733	chr4:172986413-172986414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568474812	chr4:172986414-172986415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368158386	chr4:172986425-172986426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370345054	chr4:172986436-172986437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563087513	chr4:172986443-172986444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538244053	chr4:172986518-172986519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186434108	chr4:172986582-172986583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191155483	chr4:172986601-172986602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76426531	chr4:172986643-172986644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554014402	chr4:172986646-172986647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573910472	chr4:172986660-172986661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542770141	chr4:172986684-172986685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561450528	chr4:172986695-172986696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150067412	chr4:172986696-172986697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544285743	chr4:172986716-172986717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77545449	chr4:172986718-172986719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542285819	chr4:172986736-172986737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117331416	chr4:172986749-172986750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540179834	chr4:172986754-172986755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560454246	chr4:172986770-172986771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562062002	chr4:172986773-172986774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529111156	chr4:172986779-172986780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535751703	chr4:172986785-172986786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6553606	chr4:172986805-172986806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs13106245	chr4:172986838-172986839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554477390	chr4:172986871-172986872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182443024	chr4:172986872-172986873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534159984	chr4:172986884-172986885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554050970	chr4:172986885-172986886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570908027	chr4:172986902-172986903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567572965	chr4:172986907-172986908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529100171	chr4:172986960-172986961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532440734	chr4:172986966-172986967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536543943	chr4:172986967-172986968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147131240	chr4:172986968-172986969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576562696	chr4:172987011-172987012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
High-grade prostatic intraepithelial neoplasia	16573809	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
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172984000-172985800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:172985400-172985800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr4:172985400-172989200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:172985800-172986400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:172985800-172989000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:172989000-172990400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:172989200-172989600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:172989400-172990400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:172989600-172992600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:172990400-172992400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:172992400-172995200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:172992600-172993200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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