Variant report

Variant	rs72674118
Chromosome Location	chr1:59051173-59051174
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59047843..59052771-chr1:59082760..59087529,8	MCF-7	breast:
2	chr1:59049156..59051350-chr1:59080976..59082563,2	MCF-7	breast:
3	chr1:59048457..59052619-chr1:59081708..59087602,8	MCF-7	breast:
4	chr1:59049910..59054215-chr1:59054903..59060265,8	MCF-7	breast:
5	chr1:59049755..59053628-chr1:59060314..59062387,4	MCF-7	breast:
6	chr1:59049811..59051312-chr1:59248040..59250365,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1062964	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs14008	0.80[EUR][1000 genomes]
rs2268943	0.83[EUR][1000 genomes]
rs55731318	0.93[EUR][1000 genomes]
rs56065191	0.93[EUR][1000 genomes]
rs56381640	0.93[EUR][1000 genomes]
rs58370530	1.00[EUR][1000 genomes]
rs6683669	0.83[EUR][1000 genomes]
rs72672226	0.93[EUR][1000 genomes]
rs72672238	0.93[EUR][1000 genomes]
rs72672239	0.93[EUR][1000 genomes]
rs72672249	0.93[EUR][1000 genomes]
rs72672271	1.00[EUR][1000 genomes]
rs72672286	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72672292	0.83[EUR][1000 genomes]
rs72674121	1.00[EUR][1000 genomes]
rs72674127	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59049000-59051200	Enhancers	Lung	lung
2	chr1:59049000-59051200	Enhancers	Stomach Mucosa	stomach
3	chr1:59049000-59051600	Enhancers	Primary hematopoietic stem cells	blood
4	chr1:59049000-59051600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:59049000-59052000	Enhancers	HSMMtube	muscle
6	chr1:59049000-59052200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:59049000-59052400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:59049000-59052400	Enhancers	Fetal Lung	lung
9	chr1:59049000-59052800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:59049000-59052800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:59049200-59051200	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr1:59049200-59051200	Enhancers	Rectal Smooth Muscle	rectum
13	chr1:59049200-59051400	Enhancers	K562	blood
14	chr1:59049200-59051600	Enhancers	Adipose Nuclei	Adipose
15	chr1:59049200-59052400	Enhancers	Aorta	Aorta
16	chr1:59049200-59052400	Enhancers	NHDF-Ad	bronchial
17	chr1:59049200-59052800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:59049200-59052800	Enhancers	Esophagus	oesophagus
19	chr1:59049400-59051400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:59049400-59057800	Weak transcription	Gastric	stomach
21	chr1:59049600-59051200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr1:59049600-59051200	Enhancers	Colon Smooth Muscle	Colon
23	chr1:59049800-59051200	Enhancers	Stomach Smooth Muscle	stomach
24	chr1:59049800-59051600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:59049800-59052800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:59049800-59052800	Enhancers	Ovary	ovary
27	chr1:59050000-59051800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:59050200-59051600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:59050200-59052400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:59050200-59052800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:59050200-59052800	Enhancers	HMEC	breast
32	chr1:59050200-59052800	Enhancers	HSMM	muscle
33	chr1:59050200-59053000	Enhancers	HUVEC	blood vessel
34	chr1:59050400-59051200	Enhancers	Pancreas	Pancrea
35	chr1:59050400-59051400	Enhancers	GM12878-XiMat	blood
36	chr1:59050400-59052000	Enhancers	Hela-S3	cervix
37	chr1:59050400-59052400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:59050400-59052400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:59050400-59052600	Enhancers	NH-A	brain
40	chr1:59050400-59052600	Enhancers	NHLF	lung
41	chr1:59050400-59052800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:59050600-59051800	Enhancers	A549	lung
43	chr1:59050600-59052800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:59050600-59053000	Enhancers	Osteobl	bone
45	chr1:59050600-59057400	Weak transcription	Right Atrium	heart
46	chr1:59050800-59051400	Enhancers	Spleen	Spleen
47	chr1:59050800-59051600	Enhancers	Fetal Stomach	stomach
48	chr1:59050800-59052200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr1:59050800-59052600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:59051000-59051200	Enhancers	Primary neutrophils fromperipheralblood	blood

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