Variant report

Variant	rs829691
Chromosome Location	chr2:30663227-30663228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30662286..30664870-chr2:30667909..30671325,5	K562	blood:
2	chr2:30662772..30665115-chr2:30666031..30669960,4	K562	blood:
3	chr2:30453853..30456629-chr2:30662342..30665820,3	K562	blood:
4	chr2:30663156..30666081-chr2:30673284..30675158,2	K562	blood:

Variant related genes	Relation type
ENSG00000172954	Chromatin interaction
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1036941	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11692096	0.83[EUR][1000 genomes]
rs1252619	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1252627	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1252632	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1252633	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1252634	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1252635	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1252642	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1252645	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1662943	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1662945	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1723172	0.90[AFR][1000 genomes]
rs17395007	0.81[EUR][1000 genomes]
rs57484347	1.00[AFR][1000 genomes]
rs57637161	1.00[AFR][1000 genomes]
rs711236	1.00[AFR][1000 genomes]
rs711241	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73922662	0.83[EUR][1000 genomes]
rs829566	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829567	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs829568	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs829621	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs829624	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs829625	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs829633	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs829640	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs829643	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829652	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829656	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs829657	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs829674	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829676	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829678	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829683	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829685	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829688	1.00[AFR][1000 genomes]
rs829692	0.90[AFR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30658200-30665600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:30658600-30663600	Enhancers	Fetal Heart	heart
3	chr2:30661400-30663600	Enhancers	Primary T cells from cord blood	blood
4	chr2:30661600-30669400	Weak transcription	Primary B cells from cord blood	blood
5	chr2:30661800-30665400	Weak transcription	K562	blood
6	chr2:30662000-30663600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:30662000-30663800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr2:30662400-30663400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr2:30662400-30663400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr2:30662400-30663600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:30662400-30663600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:30663000-30669400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:30663200-30669400	Weak transcription	Thymus	Thymus
14	chr2:30663200-30669600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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