Variant report

Variant	rs62156229
Chromosome Location	chr2:97421271-97421272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97302251..97304113-chr2:97420043..97421852,2	K562	blood:
2	chr2:97417229..97422245-chr2:97423068..97428718,10	K562	blood:
3	chr2:97420644..97422511-chr2:97501666..97504420,2	K562	blood:
4	chr2:97303785..97305707-chr2:97420710..97423657,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction
ENSG00000158158	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11889085	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17119562	0.81[ASN][1000 genomes]
rs17119564	0.85[ASN][1000 genomes]
rs17119591	0.83[ASN][1000 genomes]
rs2314399	0.85[ASN][1000 genomes]
rs56797569	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56913233	0.85[ASN][1000 genomes]
rs57582887	0.85[ASN][1000 genomes]
rs62152765	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62152766	0.85[ASN][1000 genomes]
rs62152767	0.85[ASN][1000 genomes]
rs62152768	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62152770	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62152771	0.81[ASN][1000 genomes]
rs62152772	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62152773	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62152774	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62152775	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62152777	0.88[EUR][1000 genomes]
rs62152783	0.88[EUR][1000 genomes]
rs62152784	0.88[EUR][1000 genomes]
rs62152785	0.88[EUR][1000 genomes]
rs62152786	0.90[EUR][1000 genomes]
rs62156208	0.85[ASN][1000 genomes]
rs62156209	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62156210	0.85[ASN][1000 genomes]
rs62156211	0.85[ASN][1000 genomes]
rs62156212	0.85[ASN][1000 genomes]
rs62156213	0.85[ASN][1000 genomes]
rs62156216	0.85[ASN][1000 genomes]
rs62156219	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62156220	0.85[ASN][1000 genomes]
rs62156221	0.85[ASN][1000 genomes]
rs62156222	0.85[ASN][1000 genomes]
rs62156223	0.85[ASN][1000 genomes]
rs62156225	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62156226	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62156227	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62156228	0.85[ASN][1000 genomes]
rs62156230	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62156231	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62156232	0.85[ASN][1000 genomes]
rs62156233	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62156234	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6576981	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6751132	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6756482	0.88[EUR][1000 genomes]
rs6758151	0.83[ASN][1000 genomes]
rs72809850	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7568206	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs878064	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97414400-97422600	Weak transcription	A549	lung
2	chr2:97414400-97423000	Weak transcription	K562	blood
3	chr2:97417600-97425400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:97418000-97422800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:97419600-97422800	Weak transcription	NHEK	skin
6	chr2:97420000-97423000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:97420000-97423600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:97420000-97425400	Weak transcription	Pancreas	Pancrea
9	chr2:97420400-97425200	Weak transcription	Placenta	Placenta
10	chr2:97420600-97422600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:97420600-97425800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:97420600-97426000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:97420600-97426000	Weak transcription	Osteobl	bone

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