Variant report

Variant	esv3418832
Chromosome Location	chr4:133001896-133038728
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:132949068..132951871-chr4:133002686..133005668,2	K562	blood:
2	chr4:133016619..133019412-chr4:133020673..133022375,2	K562	blood:
3	chr21:46369779..46370335-chr4:133015624..133016125,2	MCF-7	breast:
4	chr4:133016619..133019412-chr4:133020673..133022375,2	K562	blood:

Variant related genes	Relation type
ENSG00000249463	chromatin interactions

Extended variants
information (count: 466 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561434032	chr4:133001927-133001928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371033738	chr4:133001957-133001958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386679608	chr4:133001958-133001959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532754856	chr4:133001959-133001960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62317291	chr4:133001960-133001961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62317292	chr4:133001961-133001962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549324295	chr4:133001963-133001964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569209407	chr4:133001964-133001965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77171828	chr4:133001965-133001966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528231115	chr4:133002026-133002027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62317293	chr4:133002037-133002038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs112030157	chr4:133002050-133002051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72675748	chr4:133002070-133002071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs3962500	chr4:133002076-133002077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185508594	chr4:133002121-133002122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35714356	chr4:133002150-133002151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567470997	chr4:133002184-133002185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17042108	chr4:133002185-133002186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113061348	chr4:133002193-133002194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552781582	chr4:133002223-133002224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566603741	chr4:133002227-133002228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538795425	chr4:133002255-133002256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558519511	chr4:133002303-133002304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575554624	chr4:133002311-133002312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544283467	chr4:133002343-133002344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548779346	chr4:133002355-133002356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143529114	chr4:133002356-133002357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3860094	chr4:133002357-133002358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77151423	chr4:133002359-133002360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79394196	chr4:133002361-133002362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575049259	chr4:133002376-133002377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540816217	chr4:133002389-133002390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190671168	chr4:133002467-133002468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149785103	chr4:133002508-133002509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545083412	chr4:133002510-133002511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144668333	chr4:133002514-133002515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530495565	chr4:133002548-133002549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570315437	chr4:133002574-133002575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533238771	chr4:133002587-133002588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567536357	chr4:133002589-133002590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181445989	chr4:133002656-133002657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546385979	chr4:133002658-133002659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566371718	chr4:133002668-133002669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538457448	chr4:133002685-133002686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72618084	chr4:133002698-133002699	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566083117	chr4:133002737-133002738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535079389	chr4:133002760-133002761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538206702	chr4:133002769-133002770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554702194	chr4:133002805-133002806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs34051088	chr4:133002806-133002807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133000200-133007200	Weak transcription	Esophagus	oesophagus
2	chr4:133007200-133008000	ZNF genes & repeats	Esophagus	oesophagus
3	chr4:133011200-133011600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:133011600-133012000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr4:133013600-133014400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:133021800-133023200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:133022000-133023400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:133022200-133022400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:133022200-133022600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:133022600-133023600	Enhancers	NHDF-Ad	bronchial
11	chr4:133023800-133024400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr4:133035800-133036800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:133038200-133045600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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