Variant report

Variant	rs332430
Chromosome Location	chr11:36723455-36723456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36722899..36725054-chr11:36764886..36767764,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11033723	0.89[EUR][1000 genomes]
rs11033749	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11033750	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11033751	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11033752	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12287855	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12294719	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12421514	1.00[CHB][hapmap]
rs1533588	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16929126	1.00[CHB][hapmap]
rs16929138	1.00[CHB][hapmap]
rs2133166	0.93[AFR][1000 genomes]
rs332429	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs332431	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs332432	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs332433	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs332434	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs332436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs332437	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs332438	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130097	1.00[CHB][hapmap]
rs867803	1.00[CHB][hapmap]
rs869207	1.00[CHB][hapmap]
rs871912	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832123	chr11:36582872-36757443	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv467792	chr11:36624187-36898373	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv554005	chr11:36624187-36898373	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv467793	chr11:36632515-37171833	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv554006	chr11:36632515-37171833	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1047073	chr11:36711638-36812910	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1041508	chr11:36711638-36815367	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1043391	chr11:36711638-36817144	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv554007	chr11:36711834-36825618	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36718400-36729000	Weak transcription	Fetal Stomach	stomach
2	chr11:36720400-36725400	Enhancers	Fetal Thymus	thymus
3	chr11:36720600-36724200	Enhancers	Thymus	Thymus
4	chr11:36721800-36724000	Weak transcription	Fetal Kidney	kidney
5	chr11:36721800-36724400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr11:36721800-36725200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:36722200-36724000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:36722200-36725200	Enhancers	Dnd41	blood
9	chr11:36722200-36731000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:36722800-36724000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:36722800-36724000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:36723000-36724000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:36723000-36724000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:36723000-36724000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:36723000-36724000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:36723200-36724600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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