Variant report

Variant	rs16952771
Chromosome Location	chr18:8036360-8036361
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8032781..8034914-chr18:8035968..8038793,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs16952773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952776	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4306631	1.00[EUR][1000 genomes]
rs4356582	1.00[EUR][1000 genomes]
rs4633832	1.00[EUR][1000 genomes]
rs57135719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58929719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60102079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60767363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60825749	1.00[EUR][1000 genomes]
rs7230272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7230992	1.00[EUR][1000 genomes]
rs7237788	1.00[EUR][1000 genomes]
rs7245244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73379949	1.00[EUR][1000 genomes]
rs73381850	1.00[EUR][1000 genomes]
rs73381854	1.00[EUR][1000 genomes]
rs73381859	1.00[EUR][1000 genomes]
rs73381860	1.00[EUR][1000 genomes]
rs73381869	1.00[EUR][1000 genomes]
rs73381871	1.00[EUR][1000 genomes]
rs73381878	1.00[EUR][1000 genomes]
rs73381887	1.00[EUR][1000 genomes]
rs73385609	1.00[EUR][1000 genomes]
rs73385613	1.00[EUR][1000 genomes]
rs73385621	1.00[EUR][1000 genomes]
rs73385641	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73385646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385662	1.00[EUR][1000 genomes]
rs73385668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73387708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73387757	1.00[EUR][1000 genomes]
rs8083556	1.00[EUR][1000 genomes]
rs8097080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	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
6	nsv909359	chr18:8001853-8064021	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8017000-8038600	Weak transcription	NH-A	brain
2	chr18:8020800-8038800	Weak transcription	Adipose Nuclei	Adipose
3	chr18:8021200-8052000	Weak transcription	Psoas Muscle	Psoas
4	chr18:8029400-8037600	Weak transcription	Aorta	Aorta
5	chr18:8029600-8042600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:8030000-8038400	Weak transcription	Lung	lung
7	chr18:8030000-8056400	Weak transcription	Pancreas	Pancrea
8	chr18:8032000-8041200	Weak transcription	Right Ventricle	heart
9	chr18:8034000-8040000	Weak transcription	Left Ventricle	heart
10	chr18:8036000-8036800	Enhancers	NHEK	skin
11	chr18:8036000-8037000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr18:8036000-8037000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:8036000-8037000	Enhancers	HMEC	breast
14	chr18:8036000-8039000	Enhancers	A549	lung
15	chr18:8036200-8036400	Enhancers	Thymus	Thymus
16	chr18:8036200-8036800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr18:8036200-8037000	Enhancers	Fetal Kidney	kidney

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