Variant report

Variant	rs13050340
Chromosome Location	chr21:40205813-40205814
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40175881..40179455-chr21:40201702..40207885,11	MCF-7	breast:
2	chr21:40204941..40207294-chr21:40276421..40279215,2	K562	blood:
3	chr21:40205616..40208986-chr21:40210258..40212560,3	MCF-7	breast:
4	chr21:40203275..40206794-chr21:40210041..40212530,5	MCF-7	breast:
5	chr21:40202141..40208683-chr21:40214749..40222143,9	K562	blood:
6	chr21:40204834..40207310-chr21:40220918..40222421,2	K562	blood:
7	chr21:40195899..40197940-chr21:40205246..40206872,2	MCF-7	breast:
8	chr21:40175294..40179502-chr21:40201748..40206259,10	K562	blood:
9	chr21:40205540..40207213-chr21:40208590..40210222,2	K562	blood:
10	chr21:40175199..40185296-chr21:40201950..40208355,14	K562	blood:
11	chr21:40203433..40205843-chr21:40286942..40289085,2	MCF-7	breast:
12	chr21:40203844..40205524-chr21:40205560..40208541,2	K562	blood:
13	chr21:40196402..40199978-chr21:40201440..40206017,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229986	Chromatin interaction
ENSG00000157557	Chromatin interaction
ENSG00000234035	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1000844	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1009121	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1051420	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1051475	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1051476	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10854389	0.87[ASN][1000 genomes]
rs11088450	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11088451	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11088452	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11088453	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11088454	0.93[ASN][1000 genomes]
rs1123350	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11254	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11701191	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11701500	0.91[ASN][1000 genomes]
rs11702403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12481740	0.90[ASN][1000 genomes]
rs12482470	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12483746	0.94[ASN][1000 genomes]
rs12627283	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13046853	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13047133	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13047537	0.92[ASN][1000 genomes]
rs13047745	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13048035	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1571707	0.90[ASN][1000 genomes]
rs2070531	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2142035	0.90[ASN][1000 genomes]
rs2836683	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836684	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836685	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836686	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836687	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836688	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836689	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836690	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836691	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836692	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836693	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836694	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836710	0.89[ASN][1000 genomes]
rs2836711	0.91[ASN][1000 genomes]
rs6517481	0.86[EUR][1000 genomes]
rs7276961	0.85[EUR][1000 genomes]
rs7282444	0.91[ASN][1000 genomes]
rs7282723	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs762386	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762387	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941892	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs998855	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 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	chr21:40195000-40212600	Weak transcription	Right Atrium	heart
2	chr21:40195200-40213800	Weak transcription	Fetal Kidney	kidney
3	chr21:40196400-40206600	Weak transcription	Gastric	stomach
4	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
5	chr21:40196600-40211000	Weak transcription	Pancreas	Pancrea
6	chr21:40197000-40211800	Weak transcription	Esophagus	oesophagus
7	chr21:40202600-40207600	Enhancers	HepG2	liver
8	chr21:40203200-40210600	Weak transcription	Spleen	Spleen
9	chr21:40203800-40225200	Weak transcription	Psoas Muscle	Psoas
10	chr21:40204200-40206800	Weak transcription	Fetal Stomach	stomach
11	chr21:40204200-40209600	Weak transcription	Dnd41	blood
12	chr21:40204200-40210200	Weak transcription	NHLF	lung
13	chr21:40204600-40210000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr21:40204600-40210000	Weak transcription	HMEC	breast
15	chr21:40204800-40209800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:40204800-40210000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:40204800-40210000	Weak transcription	NHEK	skin
18	chr21:40205000-40209600	Weak transcription	K562	blood
19	chr21:40205000-40210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:40205200-40210000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr21:40205400-40209600	Weak transcription	Hela-S3	cervix
22	chr21:40205400-40211800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr21:40205600-40210400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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