Variant report

Variant	rs28505045
Chromosome Location	chr2:234616352-234616353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234400105..234405009-chr2:234616033..234619892,4	MCF-7	breast:
2	chr2:234386983..234399433-chr2:234613282..234621553,23	MCF-7	breast:
3	chr2:234597435..234606028-chr2:234613419..234620116,22	MCF-7	breast:
4	chr2:234614862..234617067-chr2:234739874..234742811,2	MCF-7	breast:
5	chr2:234599124..234606471-chr2:234613478..234621007,17	MCF-7	breast:
6	chr2:234393460..234398388-chr2:234612624..234620814,16	MCF-7	breast:
7	chr2:234614755..234617030-chr2:234761060..234764028,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123485	Chromatin interaction
ENSG00000085982	Chromatin interaction
ENSG00000167165	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs28898569	1.00[AMR][1000 genomes]
rs28898572	1.00[AMR][1000 genomes]
rs28898586	1.00[AMR][1000 genomes]
rs28898588	1.00[AMR][1000 genomes]
rs28898592	1.00[AMR][1000 genomes]
rs28898597	1.00[AMR][1000 genomes]
rs28898607	1.00[AMR][1000 genomes]
rs28898610	1.00[AMR][1000 genomes]
rs28899169	1.00[AMR][1000 genomes]
rs28899172	1.00[AMR][1000 genomes]
rs28899180	1.00[AMR][1000 genomes]
rs28899184	1.00[AMR][1000 genomes]
rs28899185	1.00[AMR][1000 genomes]
rs28969714	1.00[AMR][1000 genomes]
rs28970013	1.00[AMR][1000 genomes]
rs45497792	1.00[AMR][1000 genomes]
rs45594938	1.00[AMR][1000 genomes]
rs45617840	1.00[AMR][1000 genomes]
rs45618133	1.00[AMR][1000 genomes]
rs6735370	1.00[AMR][1000 genomes]
rs6746419	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv2760615	chr2:234613030-234640233	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234611400-234616600	Weak transcription	HUVEC	blood vessel
2	chr2:234614000-234617400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:234614200-234617000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:234614400-234618000	Enhancers	Stomach Mucosa	stomach
5	chr2:234614600-234616800	Enhancers	Hela-S3	cervix
6	chr2:234614800-234617400	Enhancers	Osteobl	bone
7	chr2:234614800-234617800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:234615000-234617000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:234615000-234617400	Enhancers	NH-A	brain
10	chr2:234615000-234619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:234615200-234617000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:234615400-234620400	Weak transcription	Pancreas	Pancrea
13	chr2:234615600-234620000	Weak transcription	Fetal Intestine Large	intestine
14	chr2:234615800-234617000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:234615800-234617200	Weak transcription	Esophagus	oesophagus
16	chr2:234615800-234617200	Weak transcription	Gastric	stomach
17	chr2:234616000-234616800	Enhancers	NHEK	skin
18	chr2:234616000-234617400	Flanking Active TSS	A549	lung
19	chr2:234616000-234618600	Weak transcription	Liver	Liver
20	chr2:234616200-234617400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links