Variant report

Variant	rs72921112
Chromosome Location	chr4:125354249-125354250
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:125352647..125354797-chr4:125355835..125358553,2	MCF-7	breast:
2	chr4:125352416..125354939-chr4:125359830..125361425,2	MCF-7	breast:
3	chr4:125255585..125257138-chr4:125353670..125355565,2	MCF-7	breast:
4	chr4:125353257..125355602-chr4:125631659..125634824,5	MCF-7	breast:
5	chr4:125351638..125355658-chr4:125628330..125634892,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248506	Chromatin interaction
ENSG00000151458	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55987036	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56294718	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72921114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72921115	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72921117	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72921119	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72921121	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72921122	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72921127	0.83[AFR][1000 genomes]
rs72921128	0.83[AFR][1000 genomes]
rs72921129	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1015049	chr4:125037090-125393067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv879880	chr4:125174817-125494547	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2760890	chr4:125273456-125466931	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv879881	chr4:125280852-125448288	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125350600-125358800	Weak transcription	Fetal Intestine Small	intestine
2	chr4:125350800-125357000	Weak transcription	Pancreas	Pancrea
3	chr4:125350800-125357200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:125350800-125359000	Weak transcription	Right Atrium	heart
5	chr4:125352400-125356000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:125352600-125354800	Enhancers	A549	lung
7	chr4:125352800-125354400	Enhancers	NHLF	lung
8	chr4:125353000-125354400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:125353400-125354400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr4:125353400-125354400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:125353400-125354400	Weak transcription	Gastric	stomach
12	chr4:125353400-125354600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:125353400-125354600	Enhancers	NHEK	skin
14	chr4:125353800-125357000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:125353800-125358800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:125354200-125354400	Enhancers	Duodenum Mucosa	Duodenum
17	chr4:125354200-125354400	Enhancers	Stomach Mucosa	stomach
18	chr4:125354200-125354400	Flanking Active TSS	HUVEC	blood vessel
19	chr4:125354200-125354400	Enhancers	NH-A	brain
20	chr4:125354200-125354600	Enhancers	Fetal Lung	lung
21	chr4:125354200-125354800	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links