Variant report

Variant	rs7948571
Chromosome Location	chr11:57623969-57623970
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57508827..57510745-chr11:57621599..57624414,2	K562	blood:

Variant related genes	Relation type
ENSG00000254732	Chromatin interaction
ENSG00000211450	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10750870	0.98[ASN][1000 genomes]
rs10792110	0.91[ASN][1000 genomes]
rs10896644	0.96[ASN][1000 genomes]
rs10896649	0.96[ASN][1000 genomes]
rs10896653	0.96[ASN][1000 genomes]
rs11229109	0.91[ASN][1000 genomes]
rs11570176	0.93[ASN][1000 genomes]
rs11570181	0.93[ASN][1000 genomes]
rs12270209	0.91[ASN][1000 genomes]
rs12274865	0.91[ASN][1000 genomes]
rs12363024	0.93[ASN][1000 genomes]
rs12805343	0.89[ASN][1000 genomes]
rs1424753	0.93[ASN][1000 genomes]
rs1624389	0.93[ASN][1000 genomes]
rs17455422	0.91[ASN][1000 genomes]
rs17455626	0.93[ASN][1000 genomes]
rs1783818	0.95[ASN][1000 genomes]
rs1783824	0.89[ASN][1000 genomes]
rs1783976	0.93[ASN][1000 genomes]
rs1783977	0.82[ASN][1000 genomes]
rs1783978	0.93[ASN][1000 genomes]
rs1783979	0.93[ASN][1000 genomes]
rs1783980	0.93[ASN][1000 genomes]
rs1783981	0.93[ASN][1000 genomes]
rs1785498	0.93[ASN][1000 genomes]
rs1785499	0.89[ASN][1000 genomes]
rs1786438	0.91[ASN][1000 genomes]
rs2156638	0.93[ASN][1000 genomes]
rs2956981	0.89[ASN][1000 genomes]
rs2956982	0.89[ASN][1000 genomes]
rs3017889	0.89[ASN][1000 genomes]
rs36036499	0.93[ASN][1000 genomes]
rs4611222	0.93[ASN][1000 genomes]
rs471398	0.95[ASN][1000 genomes]
rs547118	0.95[ASN][1000 genomes]
rs56392705	0.89[ASN][1000 genomes]
rs585337	0.91[ASN][1000 genomes]
rs585761	0.93[ASN][1000 genomes]
rs588612	0.95[ASN][1000 genomes]
rs592785	0.83[ASN][1000 genomes]
rs593239	0.84[ASN][1000 genomes]
rs606499	0.95[ASN][1000 genomes]
rs623541	0.95[ASN][1000 genomes]
rs627145	0.93[ASN][1000 genomes]
rs639158	0.91[ASN][1000 genomes]
rs644219	0.96[ASN][1000 genomes]
rs645145	0.96[ASN][1000 genomes]
rs652191	0.96[ASN][1000 genomes]
rs652908	0.91[ASN][1000 genomes]
rs653889	0.96[ASN][1000 genomes]
rs658936	0.95[ASN][1000 genomes]
rs659165	0.96[ASN][1000 genomes]
rs665058	0.96[ASN][1000 genomes]
rs671508	0.96[ASN][1000 genomes]
rs682258	0.96[ASN][1000 genomes]
rs686489	0.91[ASN][1000 genomes]
rs7105506	0.93[ASN][1000 genomes]
rs7115528	0.93[ASN][1000 genomes]
rs7117020	0.89[ASN][1000 genomes]
rs7120868	0.93[ASN][1000 genomes]
rs7479922	0.93[ASN][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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7948571	TIMM10	Cis_1M	lymphoblastoid	RTeQTL
rs7948571	ZDHHC5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57611600-57627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:57623400-57624400	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links