Variant report

Variant	rs9976132
Chromosome Location	chr21:45279857-45279858
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr21:45279729-45280151	K562	blood:	n/a	n/a
2	SRF	chr21:45279519-45279963	K562	blood:	n/a	chr21:45279743-45279761
3	NR2F2	chr21:45279220-45281101	K562	blood:	n/a	n/a
4	TAL1	chr21:45279707-45280066	K562	blood:	n/a	n/a
5	GATA1	chr21:45278289-45281168	K562	blood:	n/a	chr21:45280824-45280833 chr21:45280824-45280833 chr21:45280823-45280833
6	CBX3	chr21:45279224-45279925	K562	blood:	n/a	n/a
7	TEAD4	chr21:45279695-45281134	K562	blood:	n/a	n/a
8	ELK1	chr21:45279423-45279883	K562	blood:	n/a	n/a
9	MAX	chr21:45279720-45279886	K562	blood:	n/a	n/a
10	EP300	chr21:45279353-45279984	K562	blood:	n/a	n/a
11	MAZ	chr21:45279829-45280012	K562	blood:	n/a	n/a
12	ATF1	chr21:45279686-45279872	K562	blood:	n/a	n/a
13	SRF	chr21:45279608-45279872	HepG2	liver:	n/a	chr21:45279743-45279761
14	SRF	chr21:45279593-45279858	K562	blood:	n/a	chr21:45279743-45279761
15	YY1	chr21:45279576-45280096	K562	blood:	n/a	n/a
16	MXI1	chr21:45279604-45279891	K562	blood:	n/a	n/a
17	YY1	chr21:45279649-45279977	GM12878	blood:	n/a	n/a
18	NR2F2	chr21:45279064-45281202	K562	blood:	n/a	n/a
19	JUN	chr21:45278416-45281164	K562	blood:	n/a	n/a
20	YY1	chr21:45279667-45279931	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45277545..45281812-chr21:45337639..45343236,6	K562	blood:
2	chr21:45278596..45280417-chr21:45324857..45327468,2	K562	blood:
3	chr21:45249455..45252079-chr21:45279419..45281351,2	K562	blood:
4	chr21:45279182..45280924-chr21:45283571..45285160,2	MCF-7	breast:
5	chr21:45273597..45276751-chr21:45277053..45279889,4	K562	blood:
6	chr21:45187250..45190053-chr21:45278541..45281497,2	K562	blood:
7	chr21:45278801..45280900-chr21:45336641..45338168,2	MCF-7	breast:
8	chr21:45279531..45281837-chr21:45307494..45310179,2	K562	blood:
9	chr21:45279077..45280867-chr21:45358882..45361761,2	K562	blood:

No data

Variant related genes	Relation type
MYL6P1	TF binding region
ENSG00000160216	Chromatin interaction
ENSG00000199598	Chromatin interaction
ENSG00000226543	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12397630	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41506347	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs4819326	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4819330	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4819331	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4819332	0.94[ASN][1000 genomes]
rs4819333	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4819337	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4819338	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4819339	0.81[ASN][1000 genomes]
rs55939443	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56240646	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56928276	0.89[ASN][1000 genomes]
rs58660555	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58859690	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60216010	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66912549	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67618547	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7277520	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7279644	0.88[CEU][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7279993	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7281678	0.89[CEU][hapmap]
rs73224999	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs762416	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8132053	0.90[ASN][1000 genomes]
rs9306162	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9974080	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9974122	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9974624	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9978185	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9978333	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9978624	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9978721	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9982899	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9982908	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9983217	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9983861	0.84[EUR][1000 genomes];0.90[ASN][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	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	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
5	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv3538	chr21:45267674-45297159	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45267600-45280400	Weak transcription	Gastric	stomach
2	chr21:45275000-45284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:45276000-45280000	Weak transcription	Placenta	Placenta
4	chr21:45276000-45280600	Weak transcription	Lung	lung
5	chr21:45276000-45280600	Weak transcription	Spleen	Spleen
6	chr21:45276200-45280600	Weak transcription	Fetal Thymus	thymus
7	chr21:45276200-45281200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr21:45276200-45281200	Weak transcription	GM12878-XiMat	blood
9	chr21:45276200-45281400	Weak transcription	Primary B cells from cord blood	blood
10	chr21:45278600-45280400	Weak transcription	Hela-S3	cervix
11	chr21:45278600-45281000	Enhancers	Fetal Intestine Small	intestine
12	chr21:45279200-45280000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr21:45279200-45280800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:45279200-45280800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:45279200-45280800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr21:45279200-45281200	Enhancers	Ovary	ovary
17	chr21:45279400-45280000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:45279400-45284000	Weak transcription	Right Ventricle	heart
19	chr21:45279600-45280400	Weak transcription	Fetal Muscle Leg	muscle
20	chr21:45279600-45280600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:45279800-45280000	Flanking Bivalent TSS/Enh	HepG2	liver
22	chr21:45279800-45280000	Enhancers	K562	blood
23	chr21:45279800-45280200	Active TSS	Stomach Smooth Muscle	stomach
24	chr21:45279800-45280400	Enhancers	Pancreas	Pancrea
25	chr21:45279800-45280600	Enhancers	Adipose Nuclei	Adipose
26	chr21:45279800-45281200	Enhancers	Colonic Mucosa	Colon

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