Variant report

Variant	esv2759237
Chromosome Location	chr4:26456267-26461885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:26455423..26458903-chr4:26462260..26464658,3	K562	blood:
2	chr4:26460527..26461421-chr4:26721272..26722269,7	MCF-7	breast:
3	chr4:26460549..26461471-chr4:26721284..26722071,3	K562	blood:

Extended variants
information (count: 238 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11726723	chr4:26456267-26456268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561386481	chr4:26456277-26456278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530140353	chr4:26456284-26456285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111350988	chr4:26456314-26456315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561779374	chr4:26456332-26456333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530435043	chr4:26456349-26456350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186220840	chr4:26456352-26456353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11722394	chr4:26456376-26456377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs374991477	chr4:26456440-26456441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397748271	chr4:26456448-26456449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71610894	chr4:26456449-26456450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35040029	chr4:26456510-26456511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55792102	chr4:26456577-26456578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371315227	chr4:26456592-26456593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552214768	chr4:26456600-26456601	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571115582	chr4:26456606-26456607	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530592091	chr4:26456623-26456624	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs137876033	chr4:26456644-26456645	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112843080	chr4:26456703-26456704	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371481940	chr4:26456707-26456708	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190151197	chr4:26456847-26456848	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112321949	chr4:26456855-26456856	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566434352	chr4:26456890-26456891	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146311402	chr4:26456901-26456902	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372323665	chr4:26456902-26456903	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17578817	chr4:26456971-26456972	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs113536638	chr4:26457090-26457091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79547485	chr4:26457111-26457112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3109847	chr4:26457165-26457166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs3109848	chr4:26457168-26457169	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182569502	chr4:26457202-26457203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187228047	chr4:26457220-26457221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368294970	chr4:26457229-26457230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560127251	chr4:26457295-26457296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192557572	chr4:26457363-26457364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112892156	chr4:26457372-26457373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182583876	chr4:26457396-26457397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530769027	chr4:26457404-26457405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550481777	chr4:26457470-26457471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7691160	chr4:26457487-26457488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs73810922	chr4:26457507-26457508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189045556	chr4:26457533-26457534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566496003	chr4:26457561-26457562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73109135	chr4:26457573-26457574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149327325	chr4:26457644-26457645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561113505	chr4:26457675-26457676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73109137	chr4:26457716-26457717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs201738562	chr4:26457732-26457733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56014539	chr4:26457733-26457734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs71186413	chr4:26457734-26457735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26423400-26459200	Weak transcription	Thymus	Thymus
2	chr4:26436400-26456400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:26445000-26461000	Weak transcription	HSMM	muscle
4	chr4:26453200-26459600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:26453800-26456800	Weak transcription	Osteobl	bone
6	chr4:26454200-26458000	Weak transcription	Fetal Stomach	stomach
7	chr4:26454400-26459000	Weak transcription	Fetal Lung	lung
8	chr4:26454800-26460800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:26455200-26456600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:26455200-26458600	Weak transcription	Primary T cells from cord blood	blood
11	chr4:26455800-26456600	Weak transcription	Pancreas	Pancrea
12	chr4:26456000-26457400	Weak transcription	Gastric	stomach
13	chr4:26456200-26459800	Weak transcription	HSMMtube	muscle
14	chr4:26456600-26456800	Enhancers	Pancreas	Pancrea
15	chr4:26456600-26457000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:26456600-26457600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:26456800-26457600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:26456800-26457600	Enhancers	Osteobl	bone
19	chr4:26457400-26457600	Enhancers	Gastric	stomach
20	chr4:26457400-26461200	Enhancers	Colon Smooth Muscle	Colon
21	chr4:26457600-26458600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:26457600-26459000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:26457600-26459200	Weak transcription	Osteobl	bone
24	chr4:26458000-26461200	Enhancers	Fetal Muscle Leg	muscle
25	chr4:26458000-26466000	Enhancers	Fetal Stomach	stomach
26	chr4:26458200-26459400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:26458400-26461400	Enhancers	Primary hematopoietic stem cells	blood
28	chr4:26458600-26459600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr4:26458600-26459800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:26458600-26461200	Enhancers	Primary T cells from cord blood	blood
31	chr4:26458600-26462000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:26458800-26461000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:26458800-26461800	Enhancers	Fetal Thymus	thymus
34	chr4:26459000-26460400	Enhancers	Fetal Lung	lung
35	chr4:26459000-26460400	Enhancers	Dnd41	blood
36	chr4:26459000-26460800	Enhancers	Stomach Smooth Muscle	stomach
37	chr4:26459000-26462000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:26459200-26460200	Enhancers	Thymus	Thymus
39	chr4:26459200-26461000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr4:26459200-26461000	Enhancers	Osteobl	bone
41	chr4:26459400-26460400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr4:26459400-26460400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:26459400-26460800	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr4:26459400-26461200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr4:26459400-26462000	Enhancers	Rectal Smooth Muscle	rectum
46	chr4:26459600-26459800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:26459600-26459800	Enhancers	Fetal Muscle Trunk	muscle
48	chr4:26459600-26460000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr4:26459600-26460400	Enhancers	NH-A	brain
50	chr4:26459600-26461000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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