Variant report

Variant	rs66534635
Chromosome Location	chr21:28797673-28797674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:28797560-28797710	HRPEpiC	eye:	n/a	n/a
2	CTCF	chr21:28797660-28797810	HCM	heart:	n/a	n/a
3	CTCF	chr21:28797640-28797790	SAEC	small airway:	n/a	n/a
4	CTCF	chr21:28797540-28797690	HVMF	connective:	n/a	n/a
5	CTCF	chr21:28797560-28797710	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr21:28797580-28797730	HCFaa	heart:	n/a	n/a
7	CTCF	chr21:28797580-28797730	HMF	breast:	n/a	n/a
8	CTCF	chr21:28797590-28797705	Medullo	brain:	n/a	n/a
9	GATA3	chr21:28797569-28799176	SK-N-SH	brain:	n/a	chr21:28798474-28798495 chr21:28797729-28797738 chr21:28797726-28797742 chr21:28797731-28797738 chr21:28797724-28797745 chr21:28797731-28797738 chr21:28797731-28797738 chr21:28797807-28797823
10	CTCF	chr21:28797636-28797714	LNCaP	prostate:	n/a	n/a
11	CTCF	chr21:28797560-28797710	BE2_C	brain:	n/a	n/a
12	RAD21	chr21:28797404-28797823	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr21:28797509-28797796	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr21:28797540-28797690	RPTEC	kidney:	n/a	n/a
15	CTCF	chr21:28797580-28797730	HPF	lung:	n/a	n/a
16	CTCF	chr21:28797580-28797730	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr21:28797640-28797790	HPF	lung:	n/a	n/a
18	CTCF	chr21:28797560-28797710	RPTEC	kidney:	n/a	n/a
19	CTCF	chr21:28797580-28797730	HEK293	kidney:	n/a	n/a
20	MXI1	chr21:28797550-28799237	SK-N-SH	brain:	n/a	n/a
21	CTCF	chr21:28797583-28797689	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr21:28797580-28797730	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr21:28797600-28797718	Gliobla	brain:	n/a	n/a
24	RAD21	chr21:28797516-28797842	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr21:28797620-28797770	HVMF	connective:	n/a	n/a
26	CTCF	chr21:28797540-28797690	HFF	foreskin:	n/a	n/a
27	RAD21	chr21:28797530-28797809	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr21:28797540-28797690	Caco-2	colon:	n/a	n/a
29	RAD21	chr21:28797455-28797754	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr21:28797540-28797690	AG10803	skin:	n/a	n/a
31	RAD21	chr21:28797505-28797766	SK-N-SH_RA	brain:	n/a	n/a
32	YY1	chr21:28797534-28797840	H1-hESC	embryonic stem cell:	n/a	chr21:28797705-28797713 chr21:28797704-28797716
33	CTCF	chr21:28797560-28797710	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr21:28797580-28797730	AG09319	gingival:	n/a	n/a
35	CTCF	chr21:28797540-28797690	NHDF-neo	bronchial:	n/a	n/a
36	CTCF	chr21:28797640-28797790	AG04450	lung:	n/a	n/a
37	CTCF	chr21:28797560-28797710	HMF	breast:	n/a	n/a
38	CTCF	chr21:28797600-28797750	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr21:28797560-28797710	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr21:28797540-28797690	AG04449	skin:	n/a	n/a
41	CTCF	chr21:28797540-28797690	NHEK	skin:	n/a	n/a
42	CTCF	chr21:28797560-28797710	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr21:28797628-28797698	NHEK	skin:	n/a	n/a
44	CTCF	chr21:28797580-28797730	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr21:28797540-28797690	HMEC	breast:	n/a	n/a
46	CTCF	chr21:28797600-28797750	SAEC	small airway:	n/a	n/a
47	CTCF	chr21:28797560-28797710	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
RPL10P1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2830935	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34627193	0.88[EUR][1000 genomes]
rs62221662	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71317499	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv913666	chr21:28687650-28810976	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916307	chr21:28762455-28905095	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28789200-28798000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:28789400-28798000	Weak transcription	Spleen	Spleen
3	chr21:28789400-28802000	Weak transcription	Left Ventricle	heart
4	chr21:28793000-28798800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:28793200-28798000	Weak transcription	Pancreas	Pancrea
6	chr21:28793800-28798600	Enhancers	Osteobl	bone
7	chr21:28793800-28798800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:28793800-28799000	Enhancers	NHDF-Ad	bronchial
9	chr21:28794000-28798000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr21:28794000-28798200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr21:28794000-28798600	Enhancers	Adipose Nuclei	Adipose
12	chr21:28794000-28798600	Enhancers	NHLF	lung
13	chr21:28794000-28799200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr21:28794200-28798800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr21:28794200-28799000	Enhancers	HSMM	muscle
16	chr21:28794600-28798600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr21:28794600-28798800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:28794600-28798800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:28794600-28798800	Enhancers	HMEC	breast
20	chr21:28795000-28797800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr21:28795200-28798400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr21:28795400-28798000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr21:28795400-28798400	Enhancers	Placenta	Placenta
24	chr21:28795400-28798400	Enhancers	NHEK	skin
25	chr21:28795600-28798000	Weak transcription	Fetal Muscle Leg	muscle
26	chr21:28795600-28798000	Weak transcription	Psoas Muscle	Psoas
27	chr21:28795600-28798000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr21:28795600-28801800	Weak transcription	Aorta	Aorta
29	chr21:28796000-28798200	Enhancers	Fetal Intestine Small	intestine
30	chr21:28796200-28797800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr21:28796400-28798400	Enhancers	Ovary	ovary
32	chr21:28796600-28801800	Weak transcription	Fetal Stomach	stomach
33	chr21:28796800-28798400	Enhancers	Dnd41	blood
34	chr21:28796800-28798800	Enhancers	HSMMtube	muscle
35	chr21:28797000-28798000	Weak transcription	Right Ventricle	heart
36	chr21:28797000-28798000	Weak transcription	NH-A	brain
37	chr21:28797000-28798200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr21:28797200-28798000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr21:28797200-28798000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr21:28797200-28798400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr21:28797400-28797800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr21:28797400-28797800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr21:28797400-28797800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr21:28797600-28797800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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