Variant report

Variant	rs16996828
Chromosome Location	chr21:40157443-40157444
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40156267..40158669-chr21:40161958..40164607,2	K562	blood:
2	chr21:40156704..40162526-chr21:40173499..40179988,10	MCF-7	breast:
3	chr21:40156379..40158519-chr21:40187612..40190020,2	MCF-7	breast:
4	chr21:40156369..40159602-chr21:40175863..40178894,4	K562	blood:
5	chr21:40156601..40161503-chr21:40174870..40178905,10	MCF-7	breast:
6	chr21:40147391..40149413-chr21:40156401..40158337,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1209928	0.80[YRI][hapmap]
rs1209929	0.81[YRI][hapmap]
rs55742027	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57766236	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57775548	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58581377	0.83[AMR][1000 genomes]
rs59615160	0.83[AMR][1000 genomes]
rs59774925	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60197819	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7278110	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7279960	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7280243	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7283841	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73442765	1.00[AMR][1000 genomes]
rs73442767	0.85[AMR][1000 genomes]
rs73442769	1.00[AMR][1000 genomes]
rs73442773	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73442777	1.00[AMR][1000 genomes]
rs73442778	1.00[AMR][1000 genomes]
rs8132431	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060405	chr21:40095523-40159813	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1063936	chr21:40114130-40159150	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv516348	chr21:40116044-40161381	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv913743	chr21:40116044-40161381	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1055623	chr21:40118451-40161072	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1056485	chr21:40128875-40159813	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40147600-40158200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:40153000-40159200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:40153800-40158800	Weak transcription	Hela-S3	cervix
4	chr21:40154600-40158400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:40156200-40159200	Enhancers	HepG2	liver
6	chr21:40156200-40159800	Enhancers	Stomach Mucosa	stomach
7	chr21:40156200-40163600	Enhancers	Fetal Intestine Small	intestine
8	chr21:40156400-40158600	Enhancers	Duodenum Mucosa	Duodenum
9	chr21:40156400-40163200	Enhancers	Fetal Intestine Large	intestine
10	chr21:40156800-40157600	Enhancers	Pancreas	Pancrea
11	chr21:40157000-40158200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr21:40157000-40158400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr21:40157200-40157600	Enhancers	A549	lung
14	chr21:40157200-40157800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr21:40157400-40157600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr21:40157400-40157800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr21:40157400-40157800	Enhancers	Fetal Lung	lung
18	chr21:40157400-40158600	Enhancers	Small Intestine	intestine
19	chr21:40157400-40159200	Weak transcription	Liver	Liver

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