Variant report

Variant	esv33435
Chromosome Location	chr4:165916176-165924461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:165689047..165689634-chr4:165918458..165919146,2	MCF-7	breast:
2	chr4:165923507..165926386-chr4:165928187..165930464,2	K562	blood:
3	chr4:165918473..165921448-chr4:165932774..165935050,2	K562	blood:

Variant related genes	Relation type
ENSG00000240674	chromatin interactions
ENSG00000250887	chromatin interactions

Extended variants
information (count: 254 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:254 , 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	rs142898043	chr4:165916206-165916207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs151118324	chr4:165916222-165916223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546423230	chr4:165916255-165916256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6536884	chr4:165916276-165916277	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs529199731	chr4:165916284-165916285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550606647	chr4:165916286-165916287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569094957	chr4:165916309-165916310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539468065	chr4:165916311-165916312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377729399	chr4:165916333-165916334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371245982	chr4:165916349-165916350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566997444	chr4:165916403-165916404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181537061	chr4:165916411-165916412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10222900	chr4:165916428-165916429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539508683	chr4:165916431-165916432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375796859	chr4:165916445-165916446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368307439	chr4:165916446-165916447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541818015	chr4:165916449-165916450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574280769	chr4:165916474-165916475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186535609	chr4:165916493-165916494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556588073	chr4:165916503-165916504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191386330	chr4:165916504-165916505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113216692	chr4:165916512-165916513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563724107	chr4:165916540-165916541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549660273	chr4:165916549-165916550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112114598	chr4:165916554-165916555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs397879222	chr4:165916578-165916579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs397996095	chr4:165916579-165916580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572642492	chr4:165916594-165916595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185026190	chr4:165918201-165918202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189456356	chr4:165918206-165918207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570212133	chr4:165918214-165918215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200094940	chr4:165918241-165918242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397786163	chr4:165918242-165918243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373301944	chr4:165918279-165918280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201409006	chr4:165918327-165918328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181740488	chr4:165918335-165918336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187017518	chr4:165918348-165918349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112834885	chr4:165918356-165918357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148765303	chr4:165918372-165918373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538728042	chr4:165918395-165918396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560244859	chr4:165918407-165918408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554056690	chr4:165918412-165918413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543887977	chr4:165918414-165918415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572274432	chr4:165918415-165918416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6852773	chr4:165918444-165918445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142476990	chr4:165918445-165918446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115310326	chr4:165918464-165918465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576230321	chr4:165918576-165918577	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs189812744	chr4:165918599-165918600	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113373228	chr4:165918605-165918606	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	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
Breast cancer	17393978	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
Congenital diaphragmatic hernia	21085971	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
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165916200-165916600	Enhancers	Placenta	Placenta
2	chr4:165918200-165919600	Enhancers	Brain Angular Gyrus	brain
3	chr4:165918400-165918600	Enhancers	Brain Anterior Caudate	brain
4	chr4:165918400-165918800	Enhancers	Brain Substantia Nigra	brain
5	chr4:165918400-165919400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr4:165918400-165920600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:165918600-165919200	Enhancers	Brain Cingulate Gyrus	brain
8	chr4:165918600-165919200	Enhancers	Brain Hippocampus Middle	brain
9	chr4:165918600-165919600	Enhancers	Brain Germinal Matrix	brain
10	chr4:165918600-165920000	Weak transcription	Brain Anterior Caudate	brain
11	chr4:165918800-165919000	Flanking Active TSS	Brain Substantia Nigra	brain
12	chr4:165918800-165919000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:165919000-165919800	Active TSS	Brain Substantia Nigra	brain
14	chr4:165919200-165919600	Active TSS	Brain Cingulate Gyrus	brain
15	chr4:165919200-165919600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:165919200-165919800	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr4:165919200-165920600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:165919400-165920200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:165919600-165920000	Weak transcription	Brain Angular Gyrus	brain
20	chr4:165919600-165920400	Enhancers	Brain Cingulate Gyrus	brain
21	chr4:165919800-165920200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:165919800-165920400	Enhancers	Brain Hippocampus Middle	brain
23	chr4:165920000-165920400	Enhancers	Brain Angular Gyrus	brain
24	chr4:165920000-165920400	Enhancers	Brain Anterior Caudate	brain
25	chr4:165920200-165920400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr4:165922600-165923000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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