Variant report

Variant	rs72917272
Chromosome Location	chr4:125033270-125033271
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:124486074..124486592-chr4:125032707..125033420,2	MCF-7	breast:
2	chr4:124693787..124694688-chr4:125032781..125033558,3	MCF-7	breast:
3	chr4:124023854..124024424-chr4:125032732..125033576,2	MCF-7	breast:
4	chr4:125033162..125033965-chr4:125183055..125183612,2	MCF-7	breast:
5	chr4:124271462..124272013-chr4:125033081..125033668,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12506716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58998147	1.00[AMR][1000 genomes]
rs72915192	1.00[AMR][1000 genomes]
rs72915197	1.00[AMR][1000 genomes]
rs72917203	1.00[AMR][1000 genomes]
rs72917208	1.00[AMR][1000 genomes]
rs72917214	1.00[AMR][1000 genomes]
rs72917242	1.00[AMR][1000 genomes]
rs72917248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917250	1.00[AMR][1000 genomes]
rs72917253	1.00[AMR][1000 genomes]
rs72917257	1.00[AMR][1000 genomes]
rs72917260	1.00[AMR][1000 genomes]
rs72917266	1.00[AMR][1000 genomes]
rs72917269	1.00[AMR][1000 genomes]
rs72917287	1.00[AMR][1000 genomes]
rs72917296	1.00[AMR][1000 genomes]
rs72919119	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1014750	chr4:124966525-125111807	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1000839	chr4:124966525-125115590	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv432624	chr4:125013395-125367740	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv998024	chr4:125019384-125380876	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv537241	chr4:125019384-125380876	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125032200-125033600	Enhancers	Fetal Lung	lung
2	chr4:125032200-125034200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:125032200-125034200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:125032200-125034200	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:125032200-125034200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:125032200-125034200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:125032200-125034200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:125032200-125034400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:125032400-125033800	Enhancers	Fetal Kidney	kidney
10	chr4:125032400-125034400	Enhancers	HSMM	muscle
11	chr4:125032400-125034600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:125032600-125033600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:125032600-125033600	Enhancers	Fetal Heart	heart
14	chr4:125032600-125033600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr4:125032600-125034200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:125032600-125034200	Enhancers	NHLF	lung
17	chr4:125033000-125033600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:125033000-125033600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr4:125033000-125033600	Enhancers	Fetal Stomach	stomach
20	chr4:125033000-125034000	Enhancers	Colon Smooth Muscle	Colon
21	chr4:125033000-125034200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:125033000-125034200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:125033000-125034200	Enhancers	Fetal Muscle Leg	muscle
24	chr4:125033000-125034200	Enhancers	NHDF-Ad	bronchial
25	chr4:125033000-125034200	Enhancers	Osteobl	bone
26	chr4:125033200-125033600	Enhancers	NH-A	brain
27	chr4:125033200-125034200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links