Variant report

Variant	rs7602408
Chromosome Location	chr2:10238553-10238554
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10183107..10185099-chr2:10237204..10239357,2	K562	blood:
2	chr2:10237946..10239499-chr2:10246498..10249450,2	K562	blood:
3	chr2:10236543..10238897-chr2:10254883..10256589,2	MCF-7	breast:
4	chr2:10237356..10239446-chr2:10246498..10248202,2	K562	blood:
5	chr2:10226219..10228949-chr2:10237656..10240255,3	K562	blood:
6	chr2:10234144..10239226-chr2:10260228..10264848,7	K562	blood:
7	chr2:10234216..10236108-chr2:10236183..10239201,3	K562	blood:
8	chr2:10236324..10238791-chr2:10261804..10263852,2	MCF-7	breast:
9	chr2:10238235..10241032-chr2:10272026..10274970,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172059	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000272524	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10177872	1.00[ASN][1000 genomes]
rs10929632	1.00[ASN][1000 genomes]
rs1138729	1.00[CHB][hapmap]
rs11886661	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13400128	1.00[ASN][1000 genomes]
rs3935840	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4302193	1.00[ASN][1000 genomes]
rs4321336	1.00[ASN][1000 genomes]
rs4485541	1.00[ASN][1000 genomes]
rs4569449	1.00[ASN][1000 genomes]
rs4669527	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs4669528	0.80[EUR][1000 genomes]
rs4669536	1.00[CHB][hapmap]
rs4669545	1.00[CHB][hapmap]
rs6432058	1.00[ASN][1000 genomes]
rs6432060	1.00[ASN][1000 genomes]
rs6432063	1.00[CHB][hapmap]
rs6706848	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap]
rs72786623	1.00[ASN][1000 genomes]
rs72786624	1.00[ASN][1000 genomes]
rs7574663	1.00[CHB][hapmap]
rs7582263	1.00[CHB][hapmap]
rs7585544	1.00[CHB][hapmap]
rs7587317	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs7587529	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv873633	chr2:10175442-10266563	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
7	nsv1010706	chr2:10189219-10266995	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7602408	KLF11	cis	lymphoblastoid	seeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10232000-10240200	Weak transcription	Right Atrium	heart
2	chr2:10232000-10242600	Weak transcription	Pancreas	Pancrea
3	chr2:10237200-10245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:10237600-10241400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:10237600-10241400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:10238000-10241400	Weak transcription	GM12878-XiMat	blood
7	chr2:10238000-10241600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:10238000-10241600	Weak transcription	Left Ventricle	heart
9	chr2:10238000-10243000	Weak transcription	K562	blood
10	chr2:10238000-10243200	Weak transcription	Fetal Intestine Small	intestine
11	chr2:10238000-10243400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:10238000-10243400	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:10238000-10244600	Weak transcription	A549	lung
14	chr2:10238200-10243400	Weak transcription	Fetal Intestine Large	intestine

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