Variant report

Variant	rs672929
Chromosome Location	chr21:44793464-44793465
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44792038..44794136-chr21:44797022..44799785,2	K562	blood:
2	chr21:44792472..44794929-chr21:44800038..44801919,2	K562	blood:
3	chr21:44777331..44779083-chr21:44791828..44793778,2	MCF-7	breast:
4	chr21:44792472..44794842-chr21:44800038..44802202,2	K562	blood:
5	chr21:44791851..44794136-chr21:44798285..44800015,2	K562	blood:
6	chr21:44787122..44790843-chr21:44793154..44798480,6	K562	blood:
7	chr21:44788189..44792112-chr21:44793177..44796400,4	MCF-7	breast:
8	chr21:44792171..44794658-chr21:44846170..44848723,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2073428	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs478075	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs535024	1.00[CHB][hapmap];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs564779	0.96[CEU][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs565629	0.96[CEU][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.81[JPT][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs580007	0.84[EUR][1000 genomes]
rs587329	0.86[EUR][1000 genomes]
rs622330	0.96[EUR][1000 genomes]
rs634978	0.81[TSI][hapmap]
rs666249	0.82[ASN][1000 genomes]
rs666699	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs672948	0.83[TSI][hapmap]
rs673220	0.92[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs857566	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs857567	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs857569	0.96[CEU][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.93[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	esv1817359	chr21:44699077-44821595	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	nsv1058308	chr21:44722915-44825108	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1063186	chr21:44729904-44828476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv544467	chr21:44729904-44828476	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv913837	chr21:44731138-44853859	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
11	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
12	nsv913840	chr21:44750643-44823479	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913841	chr21:44761874-44853859	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
14	nsv913843	chr21:44774757-44810756	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv913844	chr21:44779680-44875495	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
16	nsv913845	chr21:44781356-44874702	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
17	nsv470901	chr21:44781356-44884252	Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
18	nsv913846	chr21:44792003-44824854	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs672929	NCRNA00257	cis	parietal	SCAN
rs672929	LOC284837	cis	parietal	SCAN
rs672929	C21orf2	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44788400-44795800	Weak transcription	Spleen	Spleen
2	chr21:44788600-44794000	Enhancers	Esophagus	oesophagus
3	chr21:44788800-44794200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:44788800-44795400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr21:44789000-44794200	Enhancers	HMEC	breast
6	chr21:44790400-44794800	Enhancers	Brain Germinal Matrix	brain
7	chr21:44790400-44802600	Weak transcription	Pancreas	Pancrea
8	chr21:44790600-44830800	Weak transcription	Right Atrium	heart
9	chr21:44790800-44802400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr21:44791600-44802200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr21:44791600-44802600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr21:44791800-44799800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr21:44792000-44796200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr21:44792400-44793800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr21:44792600-44793600	Flanking Active TSS	Hela-S3	cervix
16	chr21:44792600-44794000	Enhancers	NHEK	skin
17	chr21:44792600-44795000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:44792800-44793600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:44792800-44793600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr21:44792800-44793800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr21:44792800-44794200	Enhancers	Fetal Lung	lung
22	chr21:44792800-44795000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr21:44792800-44796000	Enhancers	Fetal Muscle Leg	muscle
24	chr21:44793200-44793600	Enhancers	HSMM	muscle
25	chr21:44793200-44793800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr21:44793200-44793800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr21:44793400-44793600	Enhancers	Fetal Brain Male	brain
28	chr21:44793400-44793600	Enhancers	Right Ventricle	heart
29	chr21:44793400-44793600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr21:44793400-44794600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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