Variant report

Variant	esv2757084
Chromosome Location	chr4:132525851-132602303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:132387674..132388400-chr4:132565905..132566424,2	MCF-7	breast:
2	chr4:132012841..132013396-chr4:132565892..132566443,2	MCF-7	breast:
3	chr10:15257912..15258445-chr4:132538874..132539729,2	MCF-7	breast:
4	chr4:132564996..132567264-chr4:132571046..132573271,2	K562	blood:
5	chr4:132495865..132498860-chr4:132534309..132536542,2	K562	blood:
6	chr4:132564996..132567264-chr4:132571046..132573271,2	K562	blood:

Extended variants
information (count: 675 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1355466	chr4:132525851-132525852	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532588325	chr4:132525863-132525864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1355465	chr4:132525868-132525869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141529094	chr4:132525870-132525871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563086282	chr4:132525873-132525874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72673623	chr4:132525922-132525923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150870007	chr4:132525939-132525940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189564497	chr4:132525961-132525962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35800685	chr4:132525980-132525981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62318307	chr4:132525987-132525988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529724027	chr4:132526063-132526064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72673624	chr4:132526065-132526066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375546622	chr4:132526073-132526074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566466323	chr4:132526100-132526101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1355464	chr4:132526102-132526103	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1355463	chr4:132526125-132526126	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566141957	chr4:132526139-132526140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569011030	chr4:132526141-132526142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537792437	chr4:132526188-132526189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181621228	chr4:132526196-132526197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574349073	chr4:132526227-132526228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12331251	chr4:132526251-132526252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140057554	chr4:132526295-132526296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72943279	chr4:132526424-132526425	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs78595361	chr4:132526426-132526427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72516883	chr4:132526427-132526428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368385786	chr4:132526436-132526437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557219299	chr4:132526437-132526438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397879252	chr4:132526438-132526439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547148870	chr4:132526456-132526457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562988937	chr4:132526469-132526470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576702562	chr4:132526502-132526503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542401643	chr4:132526503-132526504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562371766	chr4:132526530-132526531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527961213	chr4:132526536-132526537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111511919	chr4:132526562-132526563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553510164	chr4:132526567-132526568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560077827	chr4:132526598-132526599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185357799	chr4:132526605-132526606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565551950	chr4:132526616-132526617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568995464	chr4:132526622-132526623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144129392	chr4:132526650-132526651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75564644	chr4:132526656-132526657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140344884	chr4:132526696-132526697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533822760	chr4:132526741-132526742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200235872	chr4:132526744-132526745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541877326	chr4:132526779-132526780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553909048	chr4:132526790-132526791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149653982	chr4:132526884-132526885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189416047	chr4:132526892-132526893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	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
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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132524600-132526000	Enhancers	NHEK	skin
2	chr4:132524800-132526000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:132524800-132526200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:132525800-132526600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:132525800-132526800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:132526000-132531200	Weak transcription	NHEK	skin
7	chr4:132526000-132533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:132526200-132526600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:132526600-132526800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:132526800-132529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:132526800-132530800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:132529400-132529800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:132529800-132530400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:132530200-132530600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:132530200-132532600	Enhancers	HMEC	breast
16	chr4:132530200-132532600	Enhancers	HUVEC	blood vessel
17	chr4:132530400-132532600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:132530600-132531600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:132530800-132532200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:132531200-132532600	Enhancers	NHEK	skin
21	chr4:132531600-132532200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr4:132531600-132532200	Enhancers	Hela-S3	cervix
23	chr4:132531600-132532400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:132531600-132532600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:132532000-132532400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:132532200-132532600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:132532600-132534800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:132534600-132534800	Active TSS	GM12878-XiMat	blood
29	chr4:132534800-132535000	Flanking Active TSS	GM12878-XiMat	blood
30	chr4:132534800-132535200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:132534800-132535400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr4:132534800-132535600	Enhancers	Primary B cells from cord blood	blood
33	chr4:132535000-132535200	Enhancers	GM12878-XiMat	blood
34	chr4:132535200-132535400	Flanking Active TSS	GM12878-XiMat	blood
35	chr4:132535400-132535800	Enhancers	GM12878-XiMat	blood
36	chr4:132548800-132549200	Active TSS	Fetal Heart	heart
37	chr4:132551600-132553800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:132553000-132553600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr4:132553200-132554400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
40	chr4:132553800-132554600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:132554200-132554400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:132556400-132557000	Active TSS	Fetal Heart	heart
43	chr4:132556600-132557000	Enhancers	Esophagus	oesophagus
44	chr4:132565800-132566200	Enhancers	Dnd41	blood
45	chr4:132579400-132579800	Flanking Active TSS	Dnd41	blood
46	chr4:132579800-132580200	Enhancers	Dnd41	blood
47	chr4:132591600-132592000	Enhancers	HMEC	breast
48	chr4:132601600-132602000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:132602000-132604800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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