Variant report

Variant	rs5026711
Chromosome Location	chr11:34428377-34428378
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1014749	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1033509	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10488737	0.93[JPT][hapmap]
rs10742316	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421999	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs16925614	0.84[ASN][1000 genomes]
rs16925668	0.93[JPT][hapmap]
rs16925678	0.93[JPT][hapmap]
rs2022322	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2076556	0.86[CHB][hapmap];0.90[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs208675	0.91[ASN][1000 genomes]
rs208677	0.91[ASN][1000 genomes]
rs208680	0.90[ASN][1000 genomes]
rs208681	0.83[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs208682	0.83[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs208683	0.83[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs2092486	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2300182	0.86[CHB][hapmap];0.90[CHD][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs2745917	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2746161	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2746169	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758735	0.93[JPT][hapmap]
rs3758736	0.93[JPT][hapmap]
rs4755374	0.88[ASN][1000 genomes]
rs4756146	0.86[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs4756155	0.93[JPT][hapmap]
rs4756156	0.93[JPT][hapmap]
rs489554	0.89[ASN][1000 genomes]
rs564250	0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs61880787	0.82[ASN][1000 genomes]
rs61880808	0.82[ASN][1000 genomes]
rs7102889	0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs7104394	0.93[JPT][hapmap]
rs7106485	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs7109462	0.93[JPT][hapmap]
rs7109778	0.88[ASN][1000 genomes]
rs7126243	0.93[JPT][hapmap]
rs7130331	0.93[JPT][hapmap]
rs7130345	0.93[JPT][hapmap]
rs7395059	0.83[ASN][1000 genomes]
rs7927163	0.80[ASN][1000 genomes]
rs7928060	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.84[LWK][hapmap];0.82[MKK][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7928866	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs7938373	0.93[JPT][hapmap]
rs942222	0.93[JPT][hapmap]

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	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv983151	chr11:34401342-34444667	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5026711	CAT	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34419000-34428600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:34424800-34431000	Enhancers	Liver	Liver
3	chr11:34425600-34435400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:34426600-34428400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:34427000-34428800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:34427200-34428600	Weak transcription	NHEK	skin
7	chr11:34427200-34430200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:34427400-34430200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:34427400-34432400	Weak transcription	Hela-S3	cervix
10	chr11:34427600-34434400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr11:34428200-34428800	Enhancers	Brain Hippocampus Middle	brain
12	chr11:34428200-34429400	Enhancers	Brain Cingulate Gyrus	brain
13	chr11:34428200-34430200	Enhancers	HepG2	liver

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