Variant report

Variant	rs1866243
Chromosome Location	chr2:86182842-86182843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86112745..86122516-chr2:86175080..86185190,27	MCF-7	breast:
2	chr2:86170585..86172715-chr2:86181758..86183932,2	MCF-7	breast:
3	chr2:86181209..86184209-chr2:86184954..86187247,3	K562	blood:
4	chr2:86135754..86137623-chr2:86180466..86183254,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232504	Chromatin interaction
ENSG00000115525	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10186005	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11890514	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11891625	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12470643	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12472588	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12476390	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13000793	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1438153	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1438155	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1866242	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4514874	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4832232	0.87[ASN][1000 genomes]
rs6547651	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6706720	0.85[EUR][1000 genomes]
rs6708525	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6737454	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7603766	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1866243	IMMT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86175000-86183600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:86178800-86188200	Enhancers	Fetal Muscle Leg	muscle
3	chr2:86179200-86183600	Enhancers	Pancreas	Pancrea
4	chr2:86179200-86183800	Enhancers	Stomach Mucosa	stomach
5	chr2:86180000-86183400	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:86180200-86183000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:86180200-86187600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:86180600-86184200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:86180800-86184000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:86180800-86184400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:86180800-86188600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:86181000-86183000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:86181000-86183600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:86181000-86183800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:86181000-86186600	Weak transcription	K562	blood
16	chr2:86181800-86184200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:86181800-86186200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:86182000-86183400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:86182200-86183400	Enhancers	NHEK	skin
20	chr2:86182400-86184400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:86182600-86183400	Enhancers	A549	lung
22	chr2:86182600-86187600	Weak transcription	Esophagus	oesophagus

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