Variant report

Variant	rs762428
Chromosome Location	chr21:45845807-45845808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr21:45845045-45845826	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr21:45844599-45845967	ECC-1	luminal epithelium:	n/a	n/a
3	FOXP2	chr21:45845237-45845812	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr21:45845018-45845822	HCT-116	colon:	n/a	n/a
5	USF1	chr21:45845305-45845886	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr21:45844849-45845944	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr21:45844799-45845902	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr21:45845042-45845817	Hela-S3	cervix:	n/a	n/a
9	USF1	chr21:45845290-45845853	ECC-1	luminal epithelium:	n/a	n/a
10	ZBTB7A	chr21:45844788-45846567	ECC-1	luminal epithelium:	n/a	chr21:45845381-45845389
11	POLR2A	chr21:45844826-45845850	HCT-116	colon:	n/a	n/a
12	POLR2A	chr21:45845630-45846650	HL-60	blood:	n/a	n/a
13	MAX	chr21:45844964-45845824	Hela-S3	cervix:	n/a	n/a
14	EP300	chr21:45844951-45845912	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr21:45845182-45846023	PFSK-1	brain:	n/a	n/a
16	TCF12	chr21:45845093-45846016	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr21:45844862-45846095	HCT-116	colon:	n/a	n/a
18	HCFC1	chr21:45844801-45846311	Hela-S3	cervix:	n/a	n/a
19	ZBTB7A	chr21:45845567-45846423	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr21:45845294-45845965	A549	lung:	n/a	n/a
21	POLR2A	chr21:45845262-45845819	Hela-S3	cervix:	n/a	n/a
22	MAX	chr21:45844806-45846063	HCT-116	colon:	n/a	n/a
23	POLR2A	chr21:45844918-45845895	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr21:45845225-45845807	HCT-116	colon:	n/a	n/a
25	SMARCC1	chr21:45845044-45845831	Hela-S3	cervix:	n/a	n/a
26	MAX	chr21:45845387-45845860	A549	lung:	n/a	n/a
27	TAF1	chr21:45844859-45845901	ECC-1	luminal epithelium:	n/a	n/a
28	TAF1	chr21:45845099-45845993	ECC-1	luminal epithelium:	n/a	n/a
29	SMARCB1	chr21:45844847-45845868	Hela-S3	cervix:	n/a	n/a
30	TCF12	chr21:45844725-45845939	ECC-1	luminal epithelium:	n/a	n/a
31	MAX	chr21:45844850-45845945	ECC-1	luminal epithelium:	n/a	n/a
32	MXI1	chr21:45845291-45845817	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr21:45844883-45846023	Hela-S3	cervix:	n/a	n/a
34	SIN3AK20	chr21:45844785-45846028	HCT-116	colon:	n/a	n/a
35	E2F6	chr21:45845275-45845861	A549	lung:	n/a	chr21:45845339-45845348
36	POLR2A	chr21:45845327-45845846	GM15510	blood:	n/a	n/a
37	POLR2A	chr21:45844916-45845947	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:6647353..6648213-chr21:45845239..45846174,2	Hela-S3	cervix:
2	chr21:45834549..45837461-chr21:45842210..45845820,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230061	TF binding region
ENSG00000230061	Chromatin interaction
ENSG00000269968	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11088951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs13049167	0.93[AMR][1000 genomes]
rs13052460	0.85[AMR][1000 genomes]
rs7279584	1.00[CHB][hapmap]
rs9653784	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9808754	1.00[CHB][hapmap]
rs9974927	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9982220	1.00[CHB][hapmap]
rs9983843	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:29 , 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	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
3	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
4	nsv459295	chr21:45629565-45849864	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv587740	chr21:45629565-45849864	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	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
7	nsv913911	chr21:45681153-45893907	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv913918	chr21:45697755-45941566	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
9	nsv913921	chr21:45699404-45854431	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
10	nsv913922	chr21:45699404-45893907	Genic enhancers Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
11	nsv913929	chr21:45700641-45860912	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
12	nsv913930	chr21:45700641-45893907	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
13	nsv913937	chr21:45709153-45865167	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
14	nsv913940	chr21:45712588-45893907	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh 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	55 gene(s)	inside rSNPs	diseases
15	nsv913941	chr21:45722442-45885589	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
16	nsv1058359	chr21:45724055-45941566	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
17	nsv1065203	chr21:45731690-45941566	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
18	nsv544473	chr21:45731690-45941566	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
19	nsv913942	chr21:45740823-45941566	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
20	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
21	nsv1067264	chr21:45757599-45941566	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
22	nsv544474	chr21:45757599-45941566	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
23	nsv913944	chr21:45757905-45941566	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
24	nsv587781	chr21:45764397-45867471	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	nsv1058534	chr21:45812976-45916560	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
26	nsv519245	chr21:45832912-45849135	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
27	nsv587801	chr21:45832912-45916560	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
28	nsv913945	chr21:45837433-45893907	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
29	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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45812800-45858200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr21:45815800-45874800	Weak transcription	Right Atrium	heart
3	chr21:45816600-45849800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr21:45817200-45847200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr21:45820000-45863400	Weak transcription	Primary T cells from cord blood	blood
6	chr21:45824200-45847600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr21:45826400-45857000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:45829400-45846600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:45833400-45847800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr21:45836200-45847800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr21:45839200-45846200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr21:45839200-45847000	Weak transcription	Fetal Thymus	thymus
13	chr21:45839800-45857600	Weak transcription	Gastric	stomach
14	chr21:45839800-45860600	Weak transcription	Thymus	Thymus
15	chr21:45839800-45866200	Weak transcription	Brain Angular Gyrus	brain
16	chr21:45840200-45847200	Weak transcription	Brain Anterior Caudate	brain
17	chr21:45840800-45847800	Weak transcription	Esophagus	oesophagus
18	chr21:45843400-45846600	Genic enhancers	Spleen	Spleen
19	chr21:45843800-45847400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr21:45844600-45846400	Active TSS	HMEC	breast
21	chr21:45844800-45848000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr21:45845000-45846400	Active TSS	A549	lung
23	chr21:45845000-45847800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr21:45845200-45846000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr21:45845200-45846200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr21:45845200-45847000	Active TSS	Hela-S3	cervix
27	chr21:45845200-45847800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr21:45845800-45846000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
29	chr21:45845800-45846000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:45845800-45846400	Enhancers	Placenta	Placenta
31	chr21:45845800-45846400	Weak transcription	Lung	lung
32	chr21:45845800-45846800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:45845800-45847000	Weak transcription	Adipose Nuclei	Adipose

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