Variant report

Variant	rs11088485
Chromosome Location	chr21:40932883-40932884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40928238..40929752-chr21:40932007..40934794,2	MCF-7	breast:
2	chr21:40932657..40935327-chr21:40936709..40939916,3	MCF-7	breast:
3	chr21:40931124..40933238-chr21:40974685..40976833,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183778	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1076564	0.91[AMR][1000 genomes]
rs12626411	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12626423	0.82[EUR][1000 genomes]
rs12626478	0.82[EUR][1000 genomes]
rs12626494	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12626783	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12626791	0.82[EUR][1000 genomes]
rs12627674	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12627733	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2837078	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2837084	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2837085	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2837087	0.91[AMR][1000 genomes]
rs2837088	0.91[AMR][1000 genomes]
rs2837089	0.91[AMR][1000 genomes]
rs2837090	0.82[AMR][1000 genomes]
rs4816633	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4818048	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4818049	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4818050	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4818052	0.96[EUR][1000 genomes]
rs4818054	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4818057	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6517549	1.00[CEU][hapmap]
rs73356097	0.88[ASN][1000 genomes]
rs914160	0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9712617	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2756754	chr21:40857523-40966156	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2758820	chr21:40857523-40966156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv34779	chr21:40884871-40977473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv433457	chr21:40900348-40964553	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	esv17842	chr21:40918970-40965975	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40928000-40935600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:40928400-40934200	Weak transcription	Brain Germinal Matrix	brain
3	chr21:40928600-40934800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr21:40928600-40936800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr21:40928600-40940200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:40928800-40934200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr21:40928800-40934400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr21:40928800-40934400	Weak transcription	Brain Anterior Caudate	brain
9	chr21:40928800-40934400	Weak transcription	Fetal Brain Male	brain
10	chr21:40928800-40934400	Weak transcription	Fetal Brain Female	brain
11	chr21:40928800-40935000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr21:40931600-40935800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr21:40931800-40940400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:40932000-40934400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:40932000-40935600	Enhancers	Stomach Mucosa	stomach
16	chr21:40932200-40935600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr21:40932400-40933000	Enhancers	Pancreas	Pancrea
18	chr21:40932600-40933400	Weak transcription	Right Atrium	heart
19	chr21:40932600-40933600	Enhancers	Fetal Intestine Large	intestine
20	chr21:40932600-40933600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr21:40932600-40936800	Enhancers	Duodenum Mucosa	Duodenum
22	chr21:40932800-40933400	Weak transcription	Left Ventricle	heart
23	chr21:40932800-40933400	Weak transcription	Right Ventricle	heart

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