Variant report

Variant	esv3467036
Chromosome Location	chr4:26290453-26295391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:26290132..26292297-chr4:26397412..26399747,2	K562	blood:
2	chr4:26281907..26283732-chr4:26289756..26291455,2	MCF-7	breast:
3	chr4:26295031..26297895-chr4:26300560..26302361,2	K562	blood:

Extended variants
information (count: 205 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:205 , 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	rs201544152	chr4:26290469-26290470	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs547380175	chr4:26290470-26290471	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs368023236	chr4:26290583-26290584	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs552334185	chr4:26290607-26290608	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565667869	chr4:26290654-26290655	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs570687873	chr4:26290743-26290744	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs187968150	chr4:26290767-26290768	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs577185445	chr4:26290784-26290785	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs113470560	chr4:26290785-26290786	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs569647931	chr4:26290805-26290806	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs535578792	chr4:26290813-26290814	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113949884	chr4:26290819-26290820	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs192291102	chr4:26290826-26290827	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs112985628	chr4:26290837-26290838	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs375203868	chr4:26290845-26290846	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs572554863	chr4:26290857-26290858	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs4591587	chr4:26290862-26290863	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs113525468	chr4:26290870-26290871	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs372583066	chr4:26290891-26290892	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs111247661	chr4:26290898-26290899	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs182880534	chr4:26290910-26290911	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs112513804	chr4:26290911-26290912	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs558181844	chr4:26290960-26290961	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs375571670	chr4:26290985-26290986	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs112076600	chr4:26290996-26290997	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs533563670	chr4:26291007-26291008	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs60159669	chr4:26291027-26291028	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs376093312	chr4:26291030-26291031	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs71610890	chr4:26291032-26291033	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2014027	chr4:26291041-26291042	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs1033093	chr4:26291061-26291062	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs1033094	chr4:26291065-26291066	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs563373090	chr4:26291077-26291078	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs2175421	chr4:26291106-26291107	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs4458442	chr4:26291134-26291135	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs529238177	chr4:26291171-26291172	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs542799808	chr4:26291182-26291183	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs559752980	chr4:26291227-26291228	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561498111	chr4:26291230-26291231	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs527506097	chr4:26291267-26291268	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs188150896	chr4:26291273-26291274	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs139978338	chr4:26291309-26291310	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs73114559	chr4:26291338-26291339	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs368071334	chr4:26291480-26291481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151289114	chr4:26291598-26291599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550085598	chr4:26291605-26291606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113375696	chr4:26291648-26291649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79409061	chr4:26291666-26291667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535442048	chr4:26291675-26291676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2136990	chr4:26291679-26291680	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26282000-26290800	Weak transcription	Placenta	Placenta
2	chr4:26289400-26291200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr4:26289600-26290600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:26289600-26290600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:26289600-26290800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:26289600-26290800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:26289600-26291200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:26289600-26291200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:26289600-26292000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:26289600-26293000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:26289800-26290600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:26289800-26290600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:26289800-26290600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:26289800-26290600	Enhancers	NH-A	brain
15	chr4:26289800-26290600	Enhancers	Osteobl	bone
16	chr4:26289800-26290800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:26289800-26291400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:26289800-26292000	Enhancers	NHEK	skin
19	chr4:26290000-26290600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:26290000-26290600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr4:26290000-26290600	Flanking Active TSS	NHDF-Ad	bronchial
22	chr4:26290000-26290800	Enhancers	NHLF	lung
23	chr4:26290000-26291200	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:26290000-26291400	Enhancers	Primary hematopoietic stem cells	blood
25	chr4:26290000-26291400	Enhancers	HSMM	muscle
26	chr4:26290000-26291600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:26290000-26291600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:26290200-26290800	Weak transcription	Primary B cells from cord blood	blood
29	chr4:26290200-26290800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:26290200-26291200	Weak transcription	Adipose Nuclei	Adipose
31	chr4:26290200-26291200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:26290200-26291600	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:26290200-26292200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr4:26290200-26297200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:26290400-26290600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:26290400-26290600	Enhancers	GM12878-XiMat	blood
37	chr4:26290400-26290800	Weak transcription	Stomach Mucosa	stomach
38	chr4:26290400-26290800	Weak transcription	HMEC	breast
39	chr4:26290400-26290800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr4:26290400-26291400	Weak transcription	Fetal Stomach	stomach
41	chr4:26290400-26291800	Weak transcription	HSMMtube	muscle
42	chr4:26290600-26291800	Enhancers	NHDF-Ad	bronchial
43	chr4:26290600-26292000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:26290600-26292000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:26290600-26297200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:26290600-26297800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:26290800-26291000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr4:26290800-26291200	Enhancers	Psoas Muscle	Psoas
49	chr4:26290800-26291400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr4:26290800-26291400	Enhancers	Stomach Mucosa	stomach

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