Variant report

Variant	rs2949857
Chromosome Location	chr11:93820847-93820848
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93815540..93817373-chr11:93818109..93821051,2	K562	blood:
2	chr11:93818692..93821576-chr11:93823530..93825348,4	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10437575	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831167	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1138800	0.81[CEU][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12222234	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1829373	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2139093	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2226927	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2949856	0.94[EUR][1000 genomes]
rs2949858	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2949860	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2949863	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020010	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3020011	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35779256	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4269880	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4271349	0.93[EUR][1000 genomes]
rs4342990	0.93[EUR][1000 genomes]
rs4396251	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4463817	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4531426	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4590832	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4625415	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4753535	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4753536	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4753537	0.93[EUR][1000 genomes]
rs4753538	0.93[EUR][1000 genomes]
rs6483290	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108501	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7119039	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7119866	0.92[EUR][1000 genomes]
rs7124402	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7925817	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs7926331	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7927016	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7942162	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7942313	0.94[EUR][1000 genomes]
rs9734022	0.94[EUR][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	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2949857	HEPHL1	cis	Thyroid	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93802400-93833400	Weak transcription	HMEC	breast
2	chr11:93816800-93833400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:93819600-93833400	Weak transcription	NHEK	skin
4	chr11:93820200-93821800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:93820400-93833200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links