Variant report

Variant	rs28938772
Chromosome Location	chr2:113817114-113817115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:113817000-113817150	SK-N-SH_RA	brain:	n/a	n/a
2	GABPA	chr2:113816767-113817306	K562	blood:	n/a	n/a
3	CBX3	chr2:113816930-113817185	K562	blood:	n/a	chr2:113816968-113816979
4	CTCF	chr2:113816929-113817166	K562	blood:	n/a	n/a
5	CTCF	chr2:113816868-113817190	K562	blood:	n/a	n/a
6	GABPA	chr2:113816913-113817162	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113808741..113811211-chr2:113813910..113818157,4	K562	blood:
2	chr2:113816411..113818730-chr2:113824215..113826075,2	K562	blood:
3	chr2:113815604..113817991-chr2:113819036..113821911,2	K562	blood:
4	chr2:113815048..113817991-chr2:113819572..113821911,4	K562	blood:
5	chr2:113816094..113817595-chr2:113914612..113916340,2	MCF-7	breast:

No data

Variant related genes	Relation type
IL36RN	TF binding region
ENSG00000136695	Chromatin interaction
ENSG00000136696	Chromatin interaction
ENSG00000136697	Chromatin interaction
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10184277	1.00[AMR][1000 genomes]
rs10496448	1.00[AMR][1000 genomes]
rs1446519	1.00[AMR][1000 genomes]
rs17043031	1.00[AMR][1000 genomes]
rs28928271	1.00[AMR][1000 genomes]
rs28929173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34433610	1.00[AMR][1000 genomes]
rs34510646	1.00[AMR][1000 genomes]
rs35354222	1.00[AMR][1000 genomes]
rs35528124	1.00[AMR][1000 genomes]
rs35626718	1.00[AMR][1000 genomes]
rs35724334	1.00[AMR][1000 genomes]
rs35797500	1.00[AMR][1000 genomes]
rs35835383	1.00[AMR][1000 genomes]
rs35985961	1.00[AMR][1000 genomes]
rs36026956	1.00[AMR][1000 genomes]
rs36100241	1.00[AMR][1000 genomes]
rs45527538	1.00[AMR][1000 genomes]
rs45549331	1.00[AMR][1000 genomes]
rs72944561	1.00[AMR][1000 genomes]
rs72944568	1.00[AMR][1000 genomes]
rs72944570	1.00[AMR][1000 genomes]
rs72944577	1.00[AMR][1000 genomes]
rs72944582	1.00[AMR][1000 genomes]
rs72952607	1.00[AMR][1000 genomes]
rs72952636	1.00[AMR][1000 genomes]
rs7558672	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv2881	chr2:113800805-113846597	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113814600-113818400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:113815800-113817400	Enhancers	NHEK	skin
3	chr2:113816000-113818400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:113816200-113817600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:113816400-113817200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:113816400-113817400	Enhancers	Fetal Lung	lung
7	chr2:113816400-113817800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr2:113816800-113817400	Flanking Active TSS	Esophagus	oesophagus
9	chr2:113817000-113817400	Flanking Active TSS	Placenta	Placenta
10	chr2:113817000-113818000	Weak transcription	HMEC	breast
11	chr2:113817000-113825400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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