Variant report

Variant	rs58757665
Chromosome Location	chr21:46011687-46011688
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	chr21:46010036..46012728-chr21:46031362..46034012,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187766	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1211088	0.97[ASN][1000 genomes]
rs1211089	0.97[ASN][1000 genomes]
rs1211103	0.91[ASN][1000 genomes]
rs1211118	0.85[ASN][1000 genomes]
rs1211121	0.85[ASN][1000 genomes]
rs1211122	0.85[ASN][1000 genomes]
rs1211123	0.87[ASN][1000 genomes]
rs12627104	0.90[ASN][1000 genomes]
rs12627414	0.85[ASN][1000 genomes]
rs233298	0.86[ASN][1000 genomes]
rs233299	0.86[ASN][1000 genomes]
rs233300	0.90[ASN][1000 genomes]
rs366534	0.97[ASN][1000 genomes]
rs369720	0.81[ASN][1000 genomes]
rs370092	0.90[ASN][1000 genomes]
rs377234	0.94[ASN][1000 genomes]
rs377573	0.94[ASN][1000 genomes]
rs382935	0.84[ASN][1000 genomes]
rs384645	0.90[ASN][1000 genomes]
rs385033	0.90[ASN][1000 genomes]
rs389936	0.97[ASN][1000 genomes]
rs392451	0.94[ASN][1000 genomes]
rs398680	0.90[ASN][1000 genomes]
rs400170	0.95[ASN][1000 genomes]
rs403981	0.94[ASN][1000 genomes]
rs404341	0.94[ASN][1000 genomes]
rs408285	0.90[ASN][1000 genomes]
rs408516	0.97[ASN][1000 genomes]
rs409893	0.97[ASN][1000 genomes]
rs416056	0.94[ASN][1000 genomes]
rs417538	0.94[ASN][1000 genomes]
rs418260	0.98[ASN][1000 genomes]
rs437149	0.90[ASN][1000 genomes]
rs442110	0.82[ASN][1000 genomes]
rs442226	0.90[ASN][1000 genomes]
rs442761	0.90[ASN][1000 genomes]
rs442849	0.97[ASN][1000 genomes]
rs446817	0.88[ASN][1000 genomes]
rs447568	0.80[ASN][1000 genomes]
rs452002	0.89[ASN][1000 genomes]
rs452547	0.94[ASN][1000 genomes]
rs455906	0.97[ASN][1000 genomes]
rs466628	0.97[ASN][1000 genomes]
rs56274513	0.86[ASN][1000 genomes]
rs659638	0.90[ASN][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	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
13	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
14	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
15	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
16	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
17	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
18	esv3360675	chr21:46010349-46012897	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45998800-46012800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:46002400-46018200	Weak transcription	Right Atrium	heart
3	chr21:46010200-46012400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr21:46011000-46012200	Enhancers	Fetal Muscle Trunk	muscle
5	chr21:46011000-46012600	Enhancers	Fetal Muscle Leg	muscle
6	chr21:46011200-46013200	Enhancers	HepG2	liver
7	chr21:46011400-46011800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
8	chr21:46011400-46012000	Bivalent Enhancer	Adipose Nuclei	Adipose
9	chr21:46011400-46012600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr21:46011400-46014000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:46011400-46014000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr21:46011400-46014400	Enhancers	Liver	Liver
13	chr21:46011600-46011800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr21:46011600-46011800	Enhancers	HMEC	breast
15	chr21:46011600-46012200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr21:46011600-46012200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:46011600-46012400	Weak transcription	Spleen	Spleen
18	chr21:46011600-46013000	Enhancers	Esophagus	oesophagus

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