Variant report

Variant	rs4461180
Chromosome Location	chr18:8029609-8029610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11081349	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs11081353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11660124	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11660294	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11661715	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs11664885	0.88[AMR][1000 genomes]
rs11873208	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11873445	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11876715	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12185387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12956144	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13381562	0.80[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1468707	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17396187	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17476082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs1942957	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2044220	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs6506543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8088882	0.88[CEU][hapmap];0.82[CHB][hapmap]

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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7987600-8033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:8009000-8036200	Weak transcription	Thymus	Thymus
3	chr18:8017000-8038600	Weak transcription	NH-A	brain
4	chr18:8020600-8036000	Weak transcription	A549	lung
5	chr18:8020800-8038800	Weak transcription	Adipose Nuclei	Adipose
6	chr18:8021200-8052000	Weak transcription	Psoas Muscle	Psoas
7	chr18:8026800-8036200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:8028200-8030200	Enhancers	Placenta	Placenta
9	chr18:8028400-8030200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr18:8028800-8029800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr18:8028800-8029800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr18:8028800-8029800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr18:8028800-8029800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr18:8028800-8030000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr18:8028800-8030000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:8028800-8030200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr18:8029000-8029800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr18:8029000-8030000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:8029000-8030000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:8029200-8030000	Enhancers	Left Ventricle	heart
21	chr18:8029200-8030000	Enhancers	Lung	lung
22	chr18:8029200-8030000	Enhancers	Pancreas	Pancrea
23	chr18:8029400-8033400	Weak transcription	Gastric	stomach
24	chr18:8029400-8037600	Weak transcription	Aorta	Aorta
25	chr18:8029600-8030400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr18:8029600-8031600	Weak transcription	Right Ventricle	heart
27	chr18:8029600-8033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr18:8029600-8042600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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