Variant report

Variant	esv1815655
Chromosome Location	chr4:172367540-172432296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214429883..214430693-chr4:172382652..172383247,2	MCF-7	breast:
2	chr4:172410818..172412907-chr4:172427241..172429415,2	K562	blood:
3	chr4:172410818..172412907-chr4:172427241..172429415,2	K562	blood:
4	chr4:172406443..172409078-chr4:172410535..172412663,2	MCF-7	breast:
5	chr4:172430767..172434419-chr4:172434504..172437331,3	K562	blood:
6	chr4:172406443..172409078-chr4:172410535..172412663,2	MCF-7	breast:

Extended variants
information (count: 204 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:204 , 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	rs4692883	chr4:172367540-172367541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190207483	chr4:172367551-172367552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552237763	chr4:172367562-172367563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182438772	chr4:172367579-172367580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17056919	chr4:172367611-172367612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369181731	chr4:172367664-172367665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35827690	chr4:172367717-172367718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139973560	chr4:172367721-172367722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574404219	chr4:172367741-172367742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143831474	chr4:172367762-172367763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4692884	chr4:172367775-172367776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs577160735	chr4:172367783-172367784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372127633	chr4:172367795-172367796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559864082	chr4:172367810-172367811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573347408	chr4:172367872-172367873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542456601	chr4:172367875-172367876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562222189	chr4:172367914-172367915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186617664	chr4:172367918-172367919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146846159	chr4:172367920-172367921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563174218	chr4:172367923-172367924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535516623	chr4:172367986-172367987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551862484	chr4:172368010-172368011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114168967	chr4:172368016-172368017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573978227	chr4:172368045-172368046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191969528	chr4:172368047-172368048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs982237	chr4:172368067-172368068	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs17200419	chr4:172368076-172368077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34925472	chr4:172368157-172368158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536987914	chr4:172368245-172368246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181690082	chr4:172368288-172368289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs982238	chr4:172368294-172368295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs185648594	chr4:172368319-172368320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539843099	chr4:172368344-172368345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190410456	chr4:172368380-172368381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182099992	chr4:172368387-172368388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187897905	chr4:172368408-172368409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17056925	chr4:172368442-172368443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575705529	chr4:172368469-172368470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78636448	chr4:172368487-172368488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78007950	chr4:172368488-172368489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77258940	chr4:172368499-172368500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575783380	chr4:172368520-172368521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144306473	chr4:172368525-172368526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115087418	chr4:172368537-172368538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533426439	chr4:172368546-172368547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545795988	chr4:172368563-172368564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558878896	chr4:172368603-172368604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549665254	chr4:172368653-172368654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568883065	chr4:172368708-172368709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543926014	chr4:172381418-172381419	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172367400-172368800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:172367600-172368600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:172381400-172381800	Active TSS	Fetal Heart	heart
4	chr4:172382400-172383000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:172382400-172383200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:172382600-172383000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr4:172394000-172395000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:172404800-172405000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:172405000-172405800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:172405800-172406200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:172418000-172418800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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