Variant report

Variant	rs2012798
Chromosome Location	chr2:86182756-86182757
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: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1036554	0.81[ASN][1000 genomes]
rs11891333	0.90[ASN][1000 genomes]
rs12622009	0.80[ASN][1000 genomes]
rs13390702	0.81[ASN][1000 genomes]
rs2118521	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2164879	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2289237	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34522092	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3770087	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3770089	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3770090	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56326127	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56900464	0.89[AMR][1000 genomes]
rs56977454	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58186343	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58365138	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58515922	0.89[ASN][1000 genomes]
rs58898686	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59835600	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60981340	0.90[ASN][1000 genomes]
rs6705122	0.90[ASN][1000 genomes]
rs6718632	0.90[ASN][1000 genomes]
rs6724025	0.89[AMR][1000 genomes]
rs6747424	0.90[ASN][1000 genomes]
rs6759489	0.90[ASN][1000 genomes]
rs735737	0.90[ASN][1000 genomes]
rs73943920	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73943946	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7608262	0.82[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

No data

Chromatin state (count:24 , 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	chr2:86182400-86182800	Enhancers	Fetal Lung	lung
21	chr2:86182400-86184400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:86182600-86182800	Enhancers	HepG2	liver
23	chr2:86182600-86183400	Enhancers	A549	lung
24	chr2:86182600-86187600	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links