Variant report

Variant	esv3433728
Chromosome Location	chr4:119171254-119173552
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	chr4:119169522..119172320-chr4:119174274..119176531,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549989906	chr4:119171265-119171266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569867453	chr4:119171351-119171352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373691250	chr4:119171352-119171353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116530596	chr4:119171407-119171408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113449413	chr4:119171424-119171425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79372441	chr4:119171498-119171499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373072282	chr4:119171502-119171503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534656804	chr4:119171575-119171576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182962861	chr4:119171581-119171582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574791140	chr4:119171593-119171594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12640268	chr4:119171716-119171717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557259785	chr4:119171717-119171718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs673682	chr4:119171730-119171731	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs372225649	chr4:119171731-119171732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546103438	chr4:119171800-119171801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375168148	chr4:119171866-119171867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572056855	chr4:119171867-119171868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113318536	chr4:119171881-119171882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560905655	chr4:119171919-119171920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530000216	chr4:119171921-119171922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550128042	chr4:119171980-119171981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563456249	chr4:119171982-119171983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532297360	chr4:119172041-119172042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187976767	chr4:119172191-119172192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372261437	chr4:119172243-119172244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200423407	chr4:119172245-119172246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367919433	chr4:119172263-119172264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371802410	chr4:119172267-119172268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376477600	chr4:119172271-119172272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370800744	chr4:119172280-119172281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201282032	chr4:119172285-119172286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397879733	chr4:119172299-119172300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372869727	chr4:119172367-119172368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566117286	chr4:119172375-119172376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13114249	chr4:119172415-119172416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11931869	chr4:119172442-119172443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs79070943	chr4:119172461-119172462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575597428	chr4:119172469-119172470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557607316	chr4:119172516-119172517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376388235	chr4:119172523-119172524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539982861	chr4:119172524-119172525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540042860	chr4:119172539-119172540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553295296	chr4:119172653-119172654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559552694	chr4:119172735-119172736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376026987	chr4:119172770-119172771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541159869	chr4:119172777-119172778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554583487	chr4:119172829-119172830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72919235	chr4:119172891-119172892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543378245	chr4:119172899-119172900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187220399	chr4:119172927-119172928	Weak transcription	n/a	n/a	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119169200-119172000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:119169800-119171800	Strong transcription	Dnd41	blood
3	chr4:119171800-119175200	Weak transcription	Dnd41	blood

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