Variant report

Variant	rs9974277
Chromosome Location	chr21:15740229-15740230
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:15738236..15741507-chr21:15753904..15757362,3	K562	blood:
2	chr21:15738341..15740358-chr21:15745168..15748188,3	MCF-7	breast:
3	chr21:15738717..15742131-chr21:15743462..15746963,4	K562	blood:
4	chr21:15739043..15741032-chr21:15755736..15757362,2	K562	blood:
5	chr21:15738236..15741206-chr21:15753262..15755404,2	K562	blood:
6	chr21:15732454..15736809-chr21:15737344..15740819,4	K562	blood:
7	chr21:15733062..15735967-chr21:15740026..15741975,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155304	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12106397	1.00[AMR][1000 genomes]
rs12329678	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12329818	1.00[EUR][1000 genomes]
rs1475892	1.00[EUR][1000 genomes]
rs17001477	1.00[EUR][1000 genomes]
rs28470776	1.00[AMR][1000 genomes]
rs28579323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58041958	1.00[EUR][1000 genomes]
rs59704604	1.00[EUR][1000 genomes]
rs6516815	1.00[EUR][1000 genomes]
rs7275979	1.00[EUR][1000 genomes]
rs7279926	1.00[EUR][1000 genomes]
rs7282081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8130177	1.00[EUR][1000 genomes]
rs8130525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8132024	1.00[EUR][1000 genomes]
rs9305297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9305311	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9975031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9976092	1.00[EUR][1000 genomes]
rs9976969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9977174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9978061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9978892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9980948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9981182	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9981787	1.00[EUR][1000 genomes]
rs9982477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9982509	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9982684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9982971	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9983264	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064554	chr21:15676222-15809321	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1061686	chr21:15724570-15765777	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv962647	chr21:15739771-15741418	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15731600-15744800	Weak transcription	Hela-S3	cervix
2	chr21:15734400-15745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr21:15734600-15744800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:15734600-15744800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr21:15734600-15745400	Weak transcription	HUVEC	blood vessel
6	chr21:15734800-15745400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr21:15735200-15744600	Weak transcription	NHEK	skin
8	chr21:15735200-15744800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:15735200-15744800	Weak transcription	HMEC	breast
10	chr21:15735200-15745200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:15737400-15745400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr21:15738600-15746000	Weak transcription	Ovary	ovary
13	chr21:15739000-15744600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr21:15739200-15745000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr21:15739200-15747800	Weak transcription	Esophagus	oesophagus
16	chr21:15739600-15745000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr21:15739800-15742400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr21:15739800-15743800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr21:15739800-15744600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr21:15739800-15745600	Weak transcription	GM12878-XiMat	blood
21	chr21:15739800-15746000	Weak transcription	K562	blood

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