Variant report

Variant	esv1796332
Chromosome Location	chr4:26291528-26294886
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	chr4:26290132..26292297-chr4:26397412..26399747,2	K562	blood:

Extended variants
information (count: 136 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151289114	chr4:26291598-26291599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550085598	chr4:26291605-26291606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113375696	chr4:26291648-26291649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79409061	chr4:26291666-26291667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535442048	chr4:26291675-26291676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2136990	chr4:26291679-26291680	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563905642	chr4:26291750-26291751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113787333	chr4:26291758-26291759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13104902	chr4:26291759-26291760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3946877	chr4:26291792-26291793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2136989	chr4:26291858-26291859	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs558358407	chr4:26291862-26291863	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs2136988	chr4:26291924-26291925	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs531525041	chr4:26291932-26291933	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs35451160	chr4:26291940-26291941	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs78630407	chr4:26291943-26291944	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs76073316	chr4:26291944-26291945	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs397992671	chr4:26291959-26291960	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs371567021	chr4:26291960-26291961	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs531847696	chr4:26292005-26292006	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs537386987	chr4:26292041-26292042	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs192735175	chr4:26292160-26292161	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs144641357	chr4:26292166-26292167	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs111325873	chr4:26292206-26292207	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs559610011	chr4:26292209-26292210	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs372375093	chr4:26292314-26292315	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs138618512	chr4:26292339-26292340	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs73245753	chr4:26292392-26292393	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs114601027	chr4:26292462-26292463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533152462	chr4:26292482-26292483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2871198	chr4:26292555-26292556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs571128337	chr4:26292628-26292629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373128037	chr4:26292678-26292679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548934636	chr4:26292695-26292696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184265601	chr4:26292726-26292727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535679777	chr4:26292732-26292733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141509374	chr4:26292770-26292771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2309359	chr4:26292794-26292795	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571553841	chr4:26292841-26292842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537200309	chr4:26292846-26292847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557242587	chr4:26292862-26292863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200062890	chr4:26292936-26292937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573963354	chr4:26292971-26292972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35718093	chr4:26292996-26292997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs397814499	chr4:26292998-26292999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112423094	chr4:26293005-26293006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369258962	chr4:26293038-26293039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537571735	chr4:26293077-26293078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188338558	chr4:26293079-26293080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553363733	chr4:26293084-26293085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26289600-26292000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:26289600-26293000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:26289800-26292000	Enhancers	NHEK	skin
4	chr4:26290000-26291600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:26290000-26291600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:26290200-26291600	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:26290200-26292200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:26290200-26297200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:26290400-26291800	Weak transcription	HSMMtube	muscle
10	chr4:26290600-26291800	Enhancers	NHDF-Ad	bronchial
11	chr4:26290600-26292000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:26290600-26292000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:26290600-26297200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:26290600-26297800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:26290800-26291600	Enhancers	Primary B cells from cord blood	blood
16	chr4:26290800-26291600	Enhancers	HMEC	breast
17	chr4:26290800-26292000	Enhancers	Placenta	Placenta
18	chr4:26290800-26292000	Weak transcription	NHLF	lung
19	chr4:26291000-26291800	Enhancers	Fetal Lung	lung
20	chr4:26291200-26291600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:26291200-26291600	Weak transcription	Psoas Muscle	Psoas
22	chr4:26291200-26292200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr4:26291200-26292400	Enhancers	Adipose Nuclei	Adipose
24	chr4:26291200-26292600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr4:26291400-26292200	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:26291400-26292200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:26291400-26292200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr4:26291400-26292800	Enhancers	Fetal Stomach	stomach
29	chr4:26291400-26296800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:26291600-26291800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:26291600-26292200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:26291600-26292200	Enhancers	Psoas Muscle	Psoas
33	chr4:26291600-26292400	Enhancers	Fetal Muscle Leg	muscle
34	chr4:26291800-26292200	Enhancers	Ovary	ovary
35	chr4:26291800-26292200	Weak transcription	NHDF-Ad	bronchial
36	chr4:26291800-26292400	Flanking Active TSS	Fetal Lung	lung
37	chr4:26291800-26292400	Enhancers	HSMMtube	muscle
38	chr4:26292000-26292200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:26292000-26292400	Enhancers	NHLF	lung
40	chr4:26292200-26292400	Enhancers	Colon Smooth Muscle	Colon
41	chr4:26292200-26292400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr4:26292200-26292400	Enhancers	NHDF-Ad	bronchial
43	chr4:26292200-26293000	Enhancers	Fetal Kidney	kidney
44	chr4:26292200-26294800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr4:26292200-26294800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr4:26292200-26299000	Weak transcription	Ovary	ovary
47	chr4:26292400-26293200	Enhancers	Fetal Lung	lung
48	chr4:26292400-26293200	Weak transcription	Fetal Muscle Leg	muscle
49	chr4:26292400-26299000	Weak transcription	NHDF-Ad	bronchial
50	chr4:26292600-26294600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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