Variant report

Variant	rs7117353
Chromosome Location	chr11:33562973-33562974
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr11:33562749-33563215	GM12878	blood:	n/a	n/a
2	RUNX3	chr11:33562740-33563220	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
KIAA1549L	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1013608	0.82[ASN][1000 genomes]
rs10437629	0.85[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs10768006	0.94[JPT][hapmap]
rs11032297	1.00[CEU][hapmap];0.85[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11822320	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12576242	0.85[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs12576953	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17339350	0.82[CEU][hapmap]
rs1969669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1983640	0.85[CEU][hapmap]
rs2073174	0.84[JPT][hapmap]
rs2076622	0.84[JPT][hapmap]
rs2076624	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281379	0.84[JPT][hapmap]
rs2281380	0.80[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2281381	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2746550	0.85[ASN][1000 genomes]
rs2756276	0.85[ASN][1000 genomes]
rs2756279	0.82[ASN][1000 genomes]
rs2756285	0.84[ASN][1000 genomes]
rs2756289	0.83[ASN][1000 genomes]
rs56719871	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59919306	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60526847	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60647863	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7115532	0.84[JPT][hapmap]
rs7119075	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs716844	0.86[ASN][1000 genomes]
rs762044	0.82[ASN][1000 genomes]
rs7949404	0.89[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762904	chr11:32969258-33586535	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv533840	chr11:33008192-33595324	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1050944	chr11:33043155-33656273	Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv540993	chr11:33043155-33656273	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv529212	chr11:33053073-33641691	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv869418	chr11:33053073-33662479	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv521130	chr11:33068389-33602913	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv1053959	chr11:33075082-33565833	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv540994	chr11:33075082-33565833	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv1041680	chr11:33249367-33637249	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv540997	chr11:33249367-33637249	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv832112	chr11:33469782-33683052	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33555000-33563400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:33555200-33563400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:33555200-33564000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:33555200-33617600	Weak transcription	Fetal Brain Male	brain
5	chr11:33555600-33563400	Weak transcription	Brain Germinal Matrix	brain
6	chr11:33555600-33566000	Weak transcription	NH-A	brain
7	chr11:33555600-33566400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:33555600-33567400	Weak transcription	HUVEC	blood vessel
9	chr11:33555600-33568600	Weak transcription	A549	lung
10	chr11:33556800-33565400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:33556800-33566000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:33558600-33564800	Weak transcription	HSMMtube	muscle
13	chr11:33558600-33567600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:33559800-33564800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:33560800-33566400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:33560800-33569200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr11:33561600-33563800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:33561600-33565000	Weak transcription	Osteobl	bone
19	chr11:33561800-33563400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:33561800-33565200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:33562000-33563200	Flanking Active TSS	GM12878-XiMat	blood
22	chr11:33562200-33563600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:33562200-33565000	Weak transcription	NHDF-Ad	bronchial
24	chr11:33562400-33564400	Weak transcription	Spleen	Spleen
25	chr11:33562800-33563000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:33562800-33569400	Strong transcription	Fetal Brain Female	brain

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