Variant report

Variant	rs73907039
Chromosome Location	chr21:46013630-46013631
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr21:46013501-46013739	K562	blood:	n/a	n/a
2	CEBPB	chr21:46013387-46013649	HepG2	liver:	n/a	n/a
3	MAX	chr21:46013552-46013727	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr21:46013480-46013870	HepG2	liver:	n/a	n/a
5	HNF4A	chr21:46013468-46013855	HepG2	liver:	n/a	chr21:46013641-46013656
6	MYC	chr21:46013352-46013793	NB4	blood:	n/a	n/a
7	GATA1	chr21:46013610-46014459	K562	blood:	n/a	n/a
8	EP300	chr21:46013374-46013920	HepG2	liver:	n/a	n/a
9	MAX	chr21:46013376-46013861	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr21:46013457-46014079	K562	blood:	n/a	n/a
11	ARID3A	chr21:46013320-46013718	HepG2	liver:	n/a	n/a
12	HEY1	chr21:46013425-46013988	HepG2	liver:	n/a	n/a
13	EP300	chr21:46013388-46013923	HepG2	liver:	n/a	n/a
14	FOSL2	chr21:46013427-46013936	HepG2	liver:	n/a	n/a
15	FOXA1	chr21:46013328-46013897	HepG2	liver:	n/a	n/a
16	JUND	chr21:46013410-46013952	HepG2	liver:	n/a	n/a
17	USF1	chr21:46013512-46013807	HepG2	liver:	n/a	n/a
18	RXRA	chr21:46013448-46014032	HepG2	liver:	n/a	n/a
19	MAZ	chr21:46013608-46014627	K562	blood:	n/a	n/a
20	FOSL2	chr21:46013446-46013886	HepG2	liver:	n/a	n/a
21	FOXA1	chr21:46013373-46013942	HepG2	liver:	n/a	n/a
22	HDAC2	chr21:46013313-46013796	HepG2	liver:	n/a	n/a
23	HNF4G	chr21:46013394-46013785	HepG2	liver:	n/a	n/a
24	RCOR1	chr21:46013542-46013745	HepG2	liver:	n/a	n/a
25	HNF4A	chr21:46013412-46013810	HepG2	liver:	n/a	chr21:46013641-46013656
26	MXI1	chr21:46013472-46013842	HepG2	liver:	n/a	n/a
27	SP1	chr21:46013319-46014051	HepG2	liver:	n/a	n/a
28	HEY1	chr21:46013586-46013906	HepG2	liver:	n/a	n/a
29	RXRA	chr21:46013443-46013987	HepG2	liver:	n/a	n/a
30	KAP1	chr21:46013361-46014479	U2OS	brain:	n/a	n/a
31	MAX	chr21:46013530-46014663	K562	blood:	n/a	n/a
32	POLR2A	chr21:46013382-46013867	HepG2	liver:	n/a	n/a
33	E2F6	chr21:46013469-46013902	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr21:46013505-46013856	HepG2	liver:	n/a	n/a
35	POLR2A	chr21:46013524-46013904	HepG2	liver:	n/a	n/a
36	HNF4G	chr21:46013369-46013949	HepG2	liver:	n/a	n/a
37	HNF4A	chr21:46013392-46013892	HepG2	liver:	n/a	chr21:46013641-46013656
38	MAX	chr21:46012968-46013860	NB4	blood:	n/a	n/a
39	CBX3	chr21:46013585-46014139	K562	blood:	n/a	n/a
40	MAX	chr21:46013466-46013885	HepG2	liver:	n/a	n/a
41	TCF12	chr21:46013435-46013945	HepG2	liver:	n/a	n/a
42	MAX	chr21:46013265-46014137	HepG2	liver:	n/a	n/a
43	POLR2A	chr21:46013597-46014012	HepG2	liver:	n/a	n/a
44	JUND	chr21:46013490-46013846	HepG2	liver:	n/a	n/a
45	MYBL2	chr21:46013350-46014008	HepG2	liver:	n/a	n/a
46	FOXA2	chr21:46013271-46013740	HepG2	liver:	n/a	n/a
47	MAX	chr21:46013440-46013801	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr21:46013513-46013766	ECC-1	luminal epithelium:	n/a	n/a
49	MAZ	chr21:46013509-46013841	HepG2	liver:	n/a	n/a
50	GATA1	chr21:46013554-46014522	PBDE	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46013451..46015943-chr21:46020098..46022022,2	K562	blood:
2	chr21:46013183..46015349-chr21:46017921..46020365,2	MCF-7	breast:

No data

Variant related genes	Relation type
KRTAP10-6	TF binding region
ENSG00000256212	Chromatin interaction
ENSG00000205441	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10211918	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28410851	1.00[EUR][1000 genomes]
rs57062552	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60417418	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60703712	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7278074	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7278302	1.00[EUR][1000 genomes]
rs7283951	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8128920	1.00[EUR][1000 genomes]
rs9979583	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9983422	1.00[ASN][1000 genomes]
rs9983876	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983964	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9989939	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv913948	chr21:45860912-46031810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1056424	chr21:45894901-46031810	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv544475	chr21:45894901-46031810	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1055163	chr21:45895663-46031810	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv913952	chr21:45988426-46031810	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	esv2751931	chr21:45990446-46031810	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv587810	chr21:45992131-46031810	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	nsv913953	chr21:46012524-46031810	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46002400-46018200	Weak transcription	Right Atrium	heart
2	chr21:46011400-46014000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:46011400-46014000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
4	chr21:46011400-46014400	Enhancers	Liver	Liver
5	chr21:46012200-46014000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:46012200-46014000	Enhancers	Placenta	Placenta
7	chr21:46012200-46014200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:46012200-46014400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr21:46012400-46014600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr21:46012600-46014000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr21:46012600-46014200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr21:46012600-46014200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
13	chr21:46012600-46014400	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr21:46012600-46014600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr21:46012800-46013800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr21:46012800-46014000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr21:46012800-46014400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr21:46013000-46013800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr21:46013000-46014000	Enhancers	GM12878-XiMat	blood
20	chr21:46013000-46014200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr21:46013000-46014400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:46013200-46014000	Flanking Active TSS	HepG2	liver
23	chr21:46013200-46014200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr21:46013200-46014200	Enhancers	Fetal Lung	lung
25	chr21:46013200-46014400	Enhancers	HSMMtube	muscle
26	chr21:46013400-46013800	Enhancers	Adipose Nuclei	Adipose
27	chr21:46013400-46013800	Enhancers	Fetal Thymus	thymus
28	chr21:46013400-46013800	Enhancers	Gastric	stomach
29	chr21:46013400-46013800	Enhancers	K562	blood
30	chr21:46013400-46014000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr21:46013400-46014000	Enhancers	Fetal Heart	heart
32	chr21:46013400-46014200	Enhancers	HMEC	breast
33	chr21:46013400-46014600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr21:46013600-46013800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr21:46013600-46013800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr21:46013600-46014200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:46013600-46014200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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