Variant report

Variant	rs11089090
Chromosome Location	chr21:45071528-45071529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45070385..45072717-chr21:45139229..45142486,3	K562	blood:
2	chr21:44913599..44915809-chr21:45069478..45072375,2	MCF-7	breast:
3	chr21:45071047..45073331-chr21:45073395..45075959,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160209	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10427514	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10483077	1.00[YRI][hapmap]
rs10483078	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11908919	0.91[YRI][hapmap]
rs11909530	0.91[YRI][hapmap]
rs11909813	0.91[YRI][hapmap]
rs11909916	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11911293	0.91[YRI][hapmap];0.84[AMR][1000 genomes]
rs11911735	1.00[YRI][hapmap]
rs11911856	1.00[YRI][hapmap]
rs12626631	0.84[YRI][hapmap]
rs17004507	1.00[YRI][hapmap]
rs17004581	0.90[YRI][hapmap]
rs17004585	1.00[YRI][hapmap]
rs17004586	1.00[YRI][hapmap]
rs17004587	1.00[YRI][hapmap]
rs17004589	0.91[YRI][hapmap]
rs17004590	0.91[YRI][hapmap]
rs17004592	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17004593	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17004594	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17004595	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17004596	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs28431406	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs28782771	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs28852206	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9917493	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 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	chr21:45060400-45078600	Weak transcription	Pancreas	Pancrea
2	chr21:45065400-45074400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:45065800-45078600	Weak transcription	Fetal Muscle Leg	muscle
4	chr21:45066200-45075200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr21:45066200-45077600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr21:45066600-45074400	Weak transcription	Hela-S3	cervix
7	chr21:45066600-45077400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr21:45066600-45078200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:45066600-45078800	Weak transcription	Brain Hippocampus Middle	brain
10	chr21:45066600-45078800	Weak transcription	Right Atrium	heart
11	chr21:45066600-45079000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr21:45066600-45079000	Weak transcription	Brain Substantia Nigra	brain
13	chr21:45066800-45078800	Weak transcription	Fetal Intestine Small	intestine
14	chr21:45067000-45077800	Weak transcription	Dnd41	blood
15	chr21:45067000-45078600	Weak transcription	HepG2	liver
16	chr21:45068400-45074600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:45068400-45077600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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