Variant report

Variant	rs28628715
Chromosome Location	chr8:11604910-11604911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11594028..11596357-chr8:11603341..11605570,2	K562	blood:
2	chr8:11603020..11605526-chr8:11757590..11759777,2	K562	blood:
3	chr8:11604748..11607888-chr8:11608880..11611391,3	K562	blood:
4	chr8:11593617..11594422-chr8:11604399..11605223,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10503425	1.00[ASN][1000 genomes]
rs1065712	1.00[ASN][1000 genomes]
rs17153500	1.00[ASN][1000 genomes]
rs17153747	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17153752	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17810696	1.00[ASN][1000 genomes]
rs17810775	1.00[ASN][1000 genomes]
rs2645398	1.00[ASN][1000 genomes]
rs2645444	1.00[ASN][1000 genomes]
rs2686188	1.00[ASN][1000 genomes]
rs2740431	1.00[ASN][1000 genomes]
rs28709984	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3729853	1.00[ASN][1000 genomes]
rs3729856	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4124646	1.00[ASN][1000 genomes]
rs4840582	1.00[ASN][1000 genomes]
rs4840584	1.00[ASN][1000 genomes]
rs4840585	1.00[ASN][1000 genomes]
rs4841584	1.00[ASN][1000 genomes]
rs4841585	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841586	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841593	1.00[ASN][1000 genomes]
rs55650299	1.00[ASN][1000 genomes]
rs55658394	1.00[ASN][1000 genomes]
rs55757177	1.00[ASN][1000 genomes]
rs55848834	1.00[ASN][1000 genomes]
rs55877487	1.00[ASN][1000 genomes]
rs56043655	1.00[ASN][1000 genomes]
rs56187811	1.00[ASN][1000 genomes]
rs56213203	1.00[ASN][1000 genomes]
rs56303605	1.00[ASN][1000 genomes]
rs66535756	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010927	1.00[ASN][1000 genomes]
rs73205195	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207235	1.00[ASN][1000 genomes]
rs73207239	1.00[ASN][1000 genomes]
rs73207245	1.00[ASN][1000 genomes]
rs73207246	1.00[ASN][1000 genomes]
rs8191513	1.00[ASN][1000 genomes]
rs8191538	1.00[ASN][1000 genomes]
rs8191556	1.00[ASN][1000 genomes]
rs8191558	1.00[ASN][1000 genomes]
rs8191560	1.00[ASN][1000 genomes]
rs8191605	1.00[ASN][1000 genomes]
rs8191606	1.00[ASN][1000 genomes]
rs8191607	1.00[ASN][1000 genomes]
rs8191608	1.00[ASN][1000 genomes]
rs8191617	1.00[ASN][1000 genomes]
rs8191625	1.00[ASN][1000 genomes]
rs8191676	1.00[ASN][1000 genomes]
rs904006	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv890359	chr8:11599570-11617240	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11599200-11605000	Enhancers	Left Ventricle	heart
2	chr8:11602000-11606600	Enhancers	Ovary	ovary
3	chr8:11602400-11606000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:11602400-11606200	Weak transcription	Right Ventricle	heart
5	chr8:11604200-11605000	Enhancers	Gastric	stomach
6	chr8:11604400-11605800	Enhancers	Pancreas	Pancrea
7	chr8:11604400-11609000	Strong transcription	Fetal Intestine Small	intestine
8	chr8:11604400-11614400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:11604600-11605200	Enhancers	Stomach Mucosa	stomach
10	chr8:11604600-11606200	Weak transcription	HepG2	liver
11	chr8:11604600-11606400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:11604600-11609600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:11604800-11605800	Weak transcription	Liver	Liver
14	chr8:11604800-11607200	Enhancers	Fetal Heart	heart
15	chr8:11604800-11616800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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