Variant report

Variant	rs1117814
Chromosome Location	chr18:7839611-7839612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10502362	0.85[EUR][1000 genomes]
rs11081345	0.90[EUR][1000 genomes]
rs12457653	0.92[EUR][1000 genomes]
rs12965898	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1348104	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1440995	0.81[EUR][1000 genomes]
rs1440999	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1441000	0.85[EUR][1000 genomes]
rs1441001	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1443616	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1822456	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2009770	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2197010	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2377575	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2377576	0.92[EUR][1000 genomes]
rs2377577	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs331414	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs331415	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs331418	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs331419	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs331425	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs331426	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34294315	0.85[EUR][1000 genomes]
rs36188935	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs364418	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4797302	0.92[EUR][1000 genomes]
rs4798599	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4798600	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4798601	0.92[EUR][1000 genomes]
rs4798602	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4798603	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs631574	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6506535	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6506536	0.82[EUR][1000 genomes]
rs671369	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs694096	0.84[EUR][1000 genomes]
rs7227367	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7228457	0.97[EUR][1000 genomes]
rs7232793	0.85[EUR][1000 genomes]
rs7233704	0.85[EUR][1000 genomes]
rs7235300	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7239136	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7243673	0.84[EUR][1000 genomes]
rs727949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs727951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8083298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8089088	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8095400	0.92[EUR][1000 genomes]
rs8095467	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8098502	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9944547	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv576425	chr18:7747873-7859757	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7815400-7843800	Weak transcription	A549	lung
2	chr18:7825200-7839800	Weak transcription	Thymus	Thymus
3	chr18:7830800-7843800	Weak transcription	Aorta	Aorta
4	chr18:7836800-7839800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:7837200-7841200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr18:7837400-7840000	Enhancers	Left Ventricle	heart
7	chr18:7837400-7841200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr18:7837600-7841800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr18:7837800-7840600	Enhancers	Psoas Muscle	Psoas
10	chr18:7837800-7840800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr18:7837800-7844000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:7838600-7839800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:7838600-7840000	Enhancers	Right Ventricle	heart
14	chr18:7838800-7840000	Enhancers	Lung	lung
15	chr18:7838800-7840400	Weak transcription	NHEK	skin
16	chr18:7838800-7840600	Enhancers	Right Atrium	heart
17	chr18:7839000-7840000	Strong transcription	Fetal Muscle Leg	muscle
18	chr18:7839000-7841200	Enhancers	Fetal Heart	heart
19	chr18:7839000-7844000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr18:7839200-7839800	ZNF genes & repeats	Fetal Stomach	stomach
21	chr18:7839200-7840400	Weak transcription	HMEC	breast
22	chr18:7839400-7839800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:7839400-7840800	Enhancers	Adipose Nuclei	Adipose
24	chr18:7839600-7839800	Enhancers	Spleen	Spleen
25	chr18:7839600-7840600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr18:7839600-7840600	Enhancers	Fetal Thymus	thymus
27	chr18:7839600-7841000	Enhancers	Fetal Brain Female	brain

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