Variant report

Variant	rs12605941
Chromosome Location	chr18:7728676-7728677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10853357	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11660897	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1446077	0.87[EUR][1000 genomes]
rs1446078	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17556255	0.85[EUR][1000 genomes]
rs17556324	0.85[EUR][1000 genomes]
rs1940345	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2027670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121189	0.84[ASN][1000 genomes]
rs35866256	0.90[EUR][1000 genomes]
rs4455047	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4798582	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4798584	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4798585	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798587	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4798591	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798592	0.86[EUR][1000 genomes]
rs597736	0.84[ASN][1000 genomes]
rs664040	0.84[ASN][1000 genomes]
rs727037	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9953589	0.83[EUR][1000 genomes]
rs9956070	0.86[ASN][1000 genomes]
rs9964890	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973158	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[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	nsv1064597	chr18:7169490-7762738	Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv543636	chr18:7169490-7762738	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised 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	8 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv458017	chr18:7689201-7747873	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv576420	chr18:7689201-7747873	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv470406	chr18:7700462-7747873	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7723000-7733800	Weak transcription	A549	lung
2	chr18:7724000-7734200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:7724600-7730400	Weak transcription	Fetal Kidney	kidney
4	chr18:7726000-7734200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr18:7726200-7733600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:7726200-7733800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:7726200-7733800	Weak transcription	Psoas Muscle	Psoas
8	chr18:7726600-7729600	Enhancers	Fetal Lung	lung
9	chr18:7727000-7728800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:7727200-7728800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr18:7727400-7732800	Weak transcription	Right Ventricle	heart
12	chr18:7727400-7734000	Weak transcription	Aorta	Aorta
13	chr18:7728000-7738800	Weak transcription	Thymus	Thymus
14	chr18:7728200-7728800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:7728200-7728800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr18:7728200-7728800	Enhancers	HMEC	breast
17	chr18:7728200-7731800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:7728400-7728800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:7728400-7728800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr18:7728400-7728800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:7728400-7728800	Enhancers	Left Ventricle	heart
22	chr18:7728400-7728800	Enhancers	Right Atrium	heart
23	chr18:7728400-7729000	Enhancers	NHEK	skin
24	chr18:7728400-7729200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:7728400-7729200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr18:7728400-7729200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:7728400-7729400	Enhancers	Pancreas	Pancrea
28	chr18:7728600-7729000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr18:7728600-7729400	Weak transcription	HepG2	liver
30	chr18:7728600-7730400	Weak transcription	Fetal Heart	heart
31	chr18:7728600-7730600	Enhancers	Fetal Intestine Small	intestine
32	chr18:7728600-7733800	Weak transcription	Gastric	stomach
33	chr18:7728600-7735200	Weak transcription	Colon Smooth Muscle	Colon
34	chr18:7728600-7740000	Weak transcription	Fetal Stomach	stomach

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