Variant report

Variant	rs6998138
Chromosome Location	chr8:105631440-105631441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105630786..105634660-chr8:105658746..105662326,3	K562	blood:
2	chr8:105631159..105633895-chr8:105682991..105685901,2	K562	blood:
3	chr8:105631159..105633495-chr8:105682582..105685901,3	K562	blood:
4	chr8:105598411..105603796-chr8:105629010..105634697,11	K562	blood:
5	chr8:105600016..105603993-chr8:105628798..105633465,5	K562	blood:

Variant related genes	Relation type
ENSG00000253350	Chromatin interaction
ENSG00000147650	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10505059	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10505061	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986052	1.00[EUR][1000 genomes]
rs1347780	1.00[EUR][1000 genomes]
rs16871487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871494	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871501	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871527	1.00[AMR][1000 genomes]
rs16871528	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871529	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871532	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871540	1.00[AMR][1000 genomes]
rs16871542	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871547	1.00[EUR][1000 genomes]
rs16871570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871573	1.00[EUR][1000 genomes]
rs16871574	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871583	1.00[EUR][1000 genomes]
rs16871604	1.00[EUR][1000 genomes]
rs16871610	1.00[EUR][1000 genomes]
rs16871627	1.00[EUR][1000 genomes]
rs16871629	1.00[EUR][1000 genomes]
rs16871659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871756	1.00[AMR][1000 genomes]
rs16871785	1.00[AMR][1000 genomes]
rs4476984	1.00[AMR][1000 genomes]
rs4478539	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4492340	0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58610142	1.00[EUR][1000 genomes]
rs59552566	1.00[EUR][1000 genomes]
rs59666618	1.00[EUR][1000 genomes]
rs6468931	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468936	0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468942	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982693	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984085	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984951	0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6985345	1.00[EUR][1000 genomes]
rs6986610	1.00[AMR][1000 genomes]
rs6986854	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992140	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6997991	1.00[EUR][1000 genomes]
rs7000469	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005906	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009354	1.00[AMR][1000 genomes]
rs7009946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010874	1.00[AMR][1000 genomes]
rs73293241	1.00[EUR][1000 genomes]
rs73293264	1.00[EUR][1000 genomes]
rs73297124	1.00[EUR][1000 genomes]
rs73299103	1.00[EUR][1000 genomes]
rs73299117	1.00[EUR][1000 genomes]
rs73299119	1.00[EUR][1000 genomes]
rs73299120	1.00[EUR][1000 genomes]
rs73299126	1.00[EUR][1000 genomes]
rs7813227	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813553	1.00[EUR][1000 genomes]
rs7813838	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7814211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7814284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7815131	1.00[EUR][1000 genomes]
rs7815196	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817448	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817730	1.00[AMR][1000 genomes]
rs7819632	1.00[AMR][1000 genomes]
rs7819974	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821042	0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829983	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832076	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832455	0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7835029	1.00[EUR][1000 genomes]
rs7836110	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837072	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837076	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838122	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7841549	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7845240	1.00[AMR][1000 genomes]
rs9694695	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105629000-105632200	Enhancers	Fetal Thymus	thymus
2	chr8:105630400-105634600	Weak transcription	Primary T cells from cord blood	blood
3	chr8:105630600-105633800	Weak transcription	GM12878-XiMat	blood
4	chr8:105630800-105632800	Enhancers	K562	blood
5	chr8:105631200-105635200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:105631400-105634200	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links