Variant report

Variant	rs380585
Chromosome Location	chr21:45999908-45999909
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45997782..46000332-chr21:46014593..46016862,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1211057	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1211058	0.90[EUR][1000 genomes]
rs1211059	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1211060	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1211061	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs144266	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs144267	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233287	0.94[ASN][1000 genomes]
rs233288	0.92[ASN][1000 genomes]
rs233289	0.85[ASN][1000 genomes]
rs233290	0.83[ASN][1000 genomes]
rs233291	0.82[ASN][1000 genomes]
rs369111	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs379858	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs396912	1.00[EUR][1000 genomes]
rs400368	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs401727	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs403940	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412062	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs426512	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs426973	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430609	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430791	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs432174	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs434716	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs455413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs455562	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs455714	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs455777	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs455911	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs456444	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs457322	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs457974	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs458563	0.84[EUR][1000 genomes]
rs459667	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs459845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs459915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs460064	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs460085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs460122	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs460166	0.84[EUR][1000 genomes]
rs460546	0.95[EUR][1000 genomes]
rs461815	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs462025	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs462254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs462349	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs462697	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs462711	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs463239	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs463267	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs463668	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs463966	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs464281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs464391	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs464424	0.95[ASN][1000 genomes]
rs464504	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs464684	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs465333	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs465930	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs466094	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs466560	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv913948	chr21:45860912-46031810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1056424	chr21:45894901-46031810	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv544475	chr21:45894901-46031810	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1055163	chr21:45895663-46031810	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv1061423	chr21:45985068-46009217	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv913951	chr21:45985068-46012524	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv913952	chr21:45988426-46031810	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv2751931	chr21:45990446-46031810	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv587810	chr21:45992131-46031810	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45994600-46003800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr21:45997800-46002000	Weak transcription	Right Atrium	heart
3	chr21:45998800-46012800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:45999000-46000000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:45999400-46000000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr21:45999800-46000000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
7	chr21:45999800-46000000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr21:45999800-46000200	Enhancers	Liver	Liver
9	chr21:45999800-46000200	Enhancers	Duodenum Mucosa	Duodenum
10	chr21:45999800-46000600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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