Variant report

Variant	rs548967
Chromosome Location	chr11:34852094-34852095
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34823587..34826482-chr11:34851054..34853222,2	K562	blood:
2	chr11:34842739..34845478-chr11:34850745..34855445,5	K562	blood:
3	chr11:34842739..34845478-chr11:34850745..34852708,3	K562	blood:
4	chr11:34852068..34854605-chr11:34854752..34856970,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10501136	0.91[CEU][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.92[TSI][hapmap]
rs1097517	0.91[ASN][1000 genomes]
rs12278295	0.86[CEU][hapmap]
rs12291580	0.90[CEU][hapmap]
rs2915186	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956073	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs473848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs473885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485845	0.91[ASN][1000 genomes]
rs498798	0.89[ASN][1000 genomes]
rs502857	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs508062	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs512013	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs523246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs525202	0.84[EUR][1000 genomes]
rs537873	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs547504	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs550313	0.91[ASN][1000 genomes]
rs552171	0.91[ASN][1000 genomes]
rs561477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566798	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568529	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs579926	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946980	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs836950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv832118	chr11:34743123-34903951	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34847200-34858400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:34847400-34852200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:34848200-34854400	Weak transcription	Esophagus	oesophagus
4	chr11:34851400-34852200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:34851400-34852200	Enhancers	Hela-S3	cervix
6	chr11:34851400-34853200	Enhancers	K562	blood
7	chr11:34851600-34852400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:34851600-34852400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:34851600-34852600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:34851600-34852600	Enhancers	Right Ventricle	heart
11	chr11:34851600-34852800	Enhancers	Fetal Heart	heart
12	chr11:34851800-34852400	Enhancers	Fetal Muscle Leg	muscle
13	chr11:34851800-34852400	Enhancers	Right Atrium	heart
14	chr11:34852000-34852200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:34852000-34852400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:34852000-34853200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:34852000-34858200	Weak transcription	HepG2	liver

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