Variant report

Variant	rs73380752
Chromosome Location	chr18:6754476-6754477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16950597	1.00[EUR][1000 genomes]
rs16950600	1.00[EUR][1000 genomes]
rs16950617	1.00[EUR][1000 genomes]
rs16950671	1.00[EUR][1000 genomes]
rs1897287	1.00[EUR][1000 genomes]
rs4316830	1.00[EUR][1000 genomes]
rs4798492	1.00[EUR][1000 genomes]
rs57136505	1.00[AMR][1000 genomes]
rs57890332	1.00[EUR][1000 genomes]
rs58095606	1.00[EUR][1000 genomes]
rs59370093	1.00[EUR][1000 genomes]
rs6506442	1.00[EUR][1000 genomes]
rs7227706	1.00[EUR][1000 genomes]
rs7234713	1.00[EUR][1000 genomes]
rs7234756	1.00[EUR][1000 genomes]
rs7239934	1.00[EUR][1000 genomes]
rs7244867	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73378787	1.00[EUR][1000 genomes]
rs73380715	1.00[EUR][1000 genomes]
rs73380727	1.00[AMR][1000 genomes]
rs73380731	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380732	1.00[EUR][1000 genomes]
rs73380739	1.00[EUR][1000 genomes]
rs73380746	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384505	1.00[EUR][1000 genomes]
rs73384508	1.00[EUR][1000 genomes]
rs8088512	1.00[EUR][1000 genomes]
rs8092656	1.00[EUR][1000 genomes]
rs8093032	1.00[EUR][1000 genomes]
rs8099234	1.00[EUR][1000 genomes]
rs9949697	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9951243	1.00[EUR][1000 genomes]
rs9958628	0.85[AMR][1000 genomes]
rs9960790	1.00[AMR][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	nsv1059678	chr18:6155114-6838290	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv916883	chr18:6299209-7244642	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1055148	chr18:6527292-6790869	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv543629	chr18:6527292-6790869	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3529901	chr18:6537233-6851509	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3529902	chr18:6537233-6851509	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1063762	chr18:6542534-7382339	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv543630	chr18:6542534-7382339	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1057885	chr18:6598684-6754548	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1060757	chr18:6682974-7051982	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv543631	chr18:6682974-7051982	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1064175	chr18:6740267-7384528	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	esv34611	chr18:6741970-6838290	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6736000-6761400	Weak transcription	Spleen	Spleen
2	chr18:6741600-6761400	Weak transcription	Pancreas	Pancrea
3	chr18:6749000-6756600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr18:6749000-6757800	Weak transcription	Fetal Heart	heart
5	chr18:6750800-6757800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:6751200-6754600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr18:6751200-6756600	Weak transcription	Psoas Muscle	Psoas
8	chr18:6751800-6757800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:6751800-6758200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr18:6752400-6759600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr18:6752400-6761000	Weak transcription	Placenta	Placenta
12	chr18:6752600-6754800	Weak transcription	HUVEC	blood vessel
13	chr18:6752600-6756400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:6752600-6757800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr18:6752800-6754600	Weak transcription	Fetal Stomach	stomach
16	chr18:6752800-6755000	Weak transcription	Left Ventricle	heart
17	chr18:6752800-6756600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr18:6752800-6757800	Weak transcription	Adipose Nuclei	Adipose
19	chr18:6752800-6757800	Weak transcription	Fetal Muscle Leg	muscle
20	chr18:6752800-6757800	Weak transcription	Ovary	ovary
21	chr18:6752800-6773800	Weak transcription	Right Atrium	heart
22	chr18:6753000-6754600	Weak transcription	NHDF-Ad	bronchial
23	chr18:6753000-6755000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:6753000-6755000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:6753000-6756800	Enhancers	Fetal Lung	lung
26	chr18:6753000-6757800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr18:6753200-6756200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr18:6753200-6757200	Weak transcription	HSMM	muscle
29	chr18:6753200-6757600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:6753200-6757600	Weak transcription	HSMMtube	muscle
31	chr18:6753200-6757600	Weak transcription	NH-A	brain
32	chr18:6753200-6758000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:6753200-6758200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:6753200-6759800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr18:6753200-6763600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr18:6753400-6754800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr18:6753400-6757400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:6753600-6754600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:6753800-6755600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:6753800-6758000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:6754000-6756000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr18:6754000-6757400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr18:6754000-6757600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr18:6754400-6754600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr18:6754400-6755800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr18:6754400-6756000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr18:6754400-6756600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links