Variant report

Variant	rs2137200
Chromosome Location	chr12:122636877-122636878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122615491..122616193-chr12:122635825..122636934,4	MCF-7	breast:
2	chr12:122631493..122633468-chr12:122636504..122639040,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10744239	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10773144	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10773171	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10846939	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10846976	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10846977	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11058015	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11058058	0.93[ASN][1000 genomes]
rs11058224	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11058231	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11058236	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11058316	0.85[EUR][1000 genomes]
rs11058323	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12228690	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427048	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12427075	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2175531	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35242277	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35396001	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35822906	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4447210	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4758681	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4758682	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4758683	0.91[EUR][1000 genomes]
rs61955561	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6488994	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6489029	0.83[EUR][1000 genomes]
rs7303129	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7303214	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7311842	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7311871	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7963903	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7964127	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7972527	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976422	0.95[ASN][1000 genomes]
rs7979259	0.89[EUR][1000 genomes]
rs925459	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs925460	0.91[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv21424	chr12:122634975-122649886	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122627000-122646800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:122628200-122637400	Weak transcription	Brain Substantia Nigra	brain
3	chr12:122628600-122640000	Weak transcription	Esophagus	oesophagus
4	chr12:122628800-122637400	Weak transcription	Brain Anterior Caudate	brain
5	chr12:122628800-122637600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:122629200-122640600	Weak transcription	Primary T cells from cord blood	blood
7	chr12:122629200-122643600	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:122630600-122641200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:122630600-122655600	Weak transcription	Right Ventricle	heart
10	chr12:122630800-122640200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:122634000-122649600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:122636200-122637000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:122636400-122637000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:122636400-122637200	Enhancers	K562	blood
15	chr12:122636400-122637600	Enhancers	Brain Cingulate Gyrus	brain
16	chr12:122636600-122637000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:122636600-122637000	Enhancers	A549	lung
18	chr12:122636600-122637800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:122636800-122640400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:122636800-122644200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:122636800-122644800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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