Variant report

Variant	esv2607441
Chromosome Location	chr4:187826386-187826559
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	chr4:187749742..187751497-chr4:187825991..187828310,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376411151	chr4:187826386-187826387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138024213	chr4:187826390-187826391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201077228	chr4:187826393-187826394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386683591	chr4:187826394-187826395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113697842	chr4:187826395-187826396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111626631	chr4:187826396-187826397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76279920	chr4:187826397-187826398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13139510	chr4:187826398-187826399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200660432	chr4:187826427-187826428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565007286	chr4:187826451-187826452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201720836	chr4:187826462-187826463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368879858	chr4:187826463-187826464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570518080	chr4:187826484-187826485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71640072	chr4:187826488-187826489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556361450	chr4:187826501-187826502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200045968	chr4:187826506-187826507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7673780	chr4:187826507-187826508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141503947	chr4:187826511-187826512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201008910	chr4:187826514-187826515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111804807	chr4:187826515-187826516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202177099	chr4:187826516-187826517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7673784	chr4:187826517-187826518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369146614	chr4:187826519-187826520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150815886	chr4:187826523-187826524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7673786	chr4:187826525-187826526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201520894	chr4:187826527-187826528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199692607	chr4:187826531-187826532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202073844	chr4:187826532-187826533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200689414	chr4:187826535-187826536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201440926	chr4:187826539-187826540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187551164	chr4:187826543-187826544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192971399	chr4:187826547-187826548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182867912	chr4:187826551-187826552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188732057	chr4:187826555-187826556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560214793	chr4:187826559-187826560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	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
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187816400-187829400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:187821400-187826400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:187821600-187826400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr4:187821600-187826400	Enhancers	NHDF-Ad	bronchial
5	chr4:187824200-187831600	Weak transcription	Fetal Intestine Small	intestine
6	chr4:187824800-187828800	Weak transcription	Gastric	stomach
7	chr4:187825000-187827200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:187826000-187840200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:187826200-187826400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:187826200-187831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:187826200-187837000	Weak transcription	HMEC	breast
12	chr4:187826200-187840800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:187826200-187841400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:187826400-187826800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:187826400-187826800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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