Variant report

Variant	esv14766
Chromosome Location	chr4:130126384-130137965
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:130126327..130128284-chr4:130130664..130133521,2	MCF-7	breast:
2	chr4:130137037..130139366-chr4:130144529..130147180,2	K562	blood:
3	chr4:130126327..130128284-chr4:130130664..130133521,2	MCF-7	breast:
4	chr4:130129537..130132005-chr4:130135878..130137851,2	K562	blood:
5	chr4:130129537..130132005-chr4:130135878..130137851,2	K562	blood:

Extended variants
information (count: 398 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575182737	chr4:130128102-130128103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542465366	chr4:130128114-130128115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6814153	chr4:130128187-130128188	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188839514	chr4:130128200-130128201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562687214	chr4:130128209-130128210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115581881	chr4:130128281-130128282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541200230	chr4:130128326-130128327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12501946	chr4:130128335-130128336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs574680075	chr4:130128351-130128352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374158831	chr4:130128359-130128360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376897732	chr4:130128368-130128369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552216551	chr4:130128402-130128403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17014446	chr4:130128403-130128404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549666467	chr4:130128430-130128431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78524420	chr4:130128431-130128432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535196593	chr4:130128443-130128444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191541290	chr4:130128451-130128452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79387407	chr4:130128507-130128508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4975197	chr4:130128509-130128510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs556540498	chr4:130128563-130128564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138840174	chr4:130128565-130128566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536156533	chr4:130128587-130128588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554832599	chr4:130128622-130128623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183400844	chr4:130128641-130128642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142033358	chr4:130128701-130128702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1980945	chr4:130128812-130128813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs568484905	chr4:130128818-130128819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368061029	chr4:130128923-130128924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563690544	chr4:130128939-130128940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112471392	chr4:130129040-130129041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187639719	chr4:130129073-130129074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557717974	chr4:130129096-130129097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191342964	chr4:130129154-130129155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145719380	chr4:130129155-130129156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528716961	chr4:130129191-130129192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77949011	chr4:130129256-130129257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17353486	chr4:130129275-130129276	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs372889281	chr4:130129282-130129283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553006187	chr4:130129353-130129354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138230034	chr4:130129367-130129368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17014451	chr4:130129369-130129370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs541721615	chr4:130129379-130129380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149605291	chr4:130129441-130129442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144342020	chr4:130129442-130129443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372854427	chr4:130129455-130129456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74434257	chr4:130129464-130129465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs57520720	chr4:130129472-130129473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558739302	chr4:130129480-130129481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577079643	chr4:130129485-130129486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545554444	chr4:130129501-130129502	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130125200-130126400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:130125200-130126400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr4:130125400-130126400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:130126200-130126400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:130128000-130128200	Enhancers	Fetal Heart	heart
6	chr4:130128200-130129200	Weak transcription	Fetal Heart	heart
7	chr4:130129200-130129600	Enhancers	Fetal Heart	heart
8	chr4:130129600-130134200	Weak transcription	Fetal Heart	heart
9	chr4:130134200-130136000	Enhancers	Fetal Heart	heart
10	chr4:130136000-130139400	Weak transcription	Fetal Heart	heart

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