Variant report

Variant	esv1806642
Chromosome Location	chr4:187836846-187848075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:187676723..187679624-chr4:187847276..187848972,2	K562	blood:
2	chr4:187844136..187846877-chr4:187850742..187852747,2	K562	blood:
3	chr4:187678770..187680807-chr4:187839575..187841188,2	K562	blood:
4	chr4:187811417..187813620-chr4:187839984..187841976,2	K562	blood:
5	chr4:187834719..187836677-chr4:187841436..187844057,2	MCF-7	breast:
6	chr4:187838828..187841268-chr4:187853169..187855944,2	K562	blood:

Variant related genes	Relation type
ENSG00000250829	chromatin interactions

Extended variants
information (count: 465 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:465 , 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	rs322430	chr4:187836846-187836847	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576611853	chr4:187836859-187836860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148493493	chr4:187836933-187836934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545275317	chr4:187836951-187836952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs45359	chr4:187836973-187836974	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569284065	chr4:187837025-187837026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181469354	chr4:187837031-187837032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554654342	chr4:187837039-187837040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs998484	chr4:187837054-187837055	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527995708	chr4:187837057-187837058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80300384	chr4:187837142-187837143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs998485	chr4:187837143-187837144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546516544	chr4:187837175-187837176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563036673	chr4:187837312-187837313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142692579	chr4:187837348-187837349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541805003	chr4:187837351-187837352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376731391	chr4:187837377-187837378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150577789	chr4:187837388-187837389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527411385	chr4:187837450-187837451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs322431	chr4:187837550-187837551	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564348998	chr4:187837588-187837589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532981310	chr4:187837595-187837596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10027461	chr4:187837608-187837609	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs322432	chr4:187837635-187837636	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs185284408	chr4:187837651-187837652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73873948	chr4:187837728-187837729	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190558311	chr4:187837742-187837743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534058868	chr4:187837778-187837779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553964511	chr4:187837846-187837847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7687552	chr4:187837862-187837863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182329635	chr4:187837877-187837878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185431271	chr4:187837883-187837884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139820278	chr4:187837895-187837896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542520181	chr4:187837923-187837924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561701318	chr4:187838119-187838120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572061529	chr4:187838123-187838124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200071477	chr4:187838152-187838153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200810908	chr4:187838153-187838154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs33926525	chr4:187838154-187838155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541170299	chr4:187838169-187838170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1004697	chr4:187838170-187838171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534016009	chr4:187838180-187838181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs322433	chr4:187838227-187838228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs143133699	chr4:187838241-187838242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563262904	chr4:187838281-187838282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs322434	chr4:187838285-187838286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549969955	chr4:187838313-187838314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189742521	chr4:187838370-187838371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527681600	chr4:187838430-187838431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547872304	chr4:187838520-187838521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187826000-187840200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:187826200-187837000	Weak transcription	HMEC	breast
3	chr4:187826200-187840800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:187826200-187841400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:187827400-187838800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:187832000-187837200	Weak transcription	Fetal Lung	lung
7	chr4:187836200-187837000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:187836200-187837400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:187836400-187837000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:187836400-187837200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:187836400-187837200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:187836400-187837400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:187836400-187837400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:187836600-187837000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr4:187836600-187837000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:187836600-187837000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:187836600-187837200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:187836800-187837200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:187836800-187837400	Enhancers	NHEK	skin
20	chr4:187837000-187837800	Enhancers	HMEC	breast
21	chr4:187837000-187841400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:187837200-187837400	Enhancers	Fetal Lung	lung
23	chr4:187837200-187863800	Weak transcription	Right Atrium	heart
24	chr4:187837400-187838400	Weak transcription	Fetal Lung	lung
25	chr4:187837400-187839800	Weak transcription	NHEK	skin
26	chr4:187837800-187840800	Weak transcription	HMEC	breast
27	chr4:187838400-187839200	Enhancers	Colon Smooth Muscle	Colon
28	chr4:187838400-187839200	Enhancers	Fetal Lung	lung
29	chr4:187838400-187840400	Enhancers	Rectal Smooth Muscle	rectum
30	chr4:187838800-187839000	Enhancers	NHLF	lung
31	chr4:187838800-187839200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:187839000-187840800	Weak transcription	NHLF	lung
33	chr4:187839200-187840200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:187839200-187840200	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:187839200-187840200	Weak transcription	Fetal Lung	lung
36	chr4:187839800-187840000	Enhancers	Fetal Kidney	kidney
37	chr4:187839800-187841000	ZNF genes & repeats	NHEK	skin
38	chr4:187840000-187842200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:187840000-187853400	Weak transcription	Fetal Kidney	kidney
40	chr4:187840200-187840400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:187840200-187840400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:187840200-187840400	Enhancers	Fetal Lung	lung
43	chr4:187840200-187840800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:187840200-187841200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:187840200-187842200	Enhancers	Colon Smooth Muscle	Colon
46	chr4:187840400-187840600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:187840400-187840800	Weak transcription	Fetal Lung	lung
48	chr4:187840400-187841400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr4:187840400-187846000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:187840600-187842600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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