Variant report

Variant	rs8133436
Chromosome Location	chr21:47519535-47519536
allele	C/T
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	chr21:47519500-47519650	Caco-2	colon:	n/a	chr21:47519621-47519634
2	CTCF	chr21:47519400-47519550	AG09319	gingival:	n/a	chr21:47519453-47519466
3	ZNF384	chr21:47519257-47519958	K562	blood:	n/a	n/a
4	CTCF	chr21:47519400-47519550	HCFaa	heart:	n/a	chr21:47519453-47519466
5	CTCF	chr21:47519301-47519640	IMR90	lung:	n/a	chr21:47519621-47519634 chr21:47519453-47519466
6	POLR2A	chr21:47516892-47522038	IMR90	lung:	n/a	n/a
7	CTCF	chr21:47519420-47519570	HPAF	blood vessel:	n/a	chr21:47519453-47519466
8	CTCF	chr21:47519456-47519558	Pancreas_OC	pancreas:	n/a	n/a
9	RAD21	chr21:47519421-47519635	H1-hESC	embryonic stem cell:	n/a	chr21:47519453-47519467
10	CTCF	chr21:47519400-47519550	SK-N-SH_RA	brain:	n/a	chr21:47519453-47519466
11	POLR2A	chr21:47519467-47519987	ProgFib	skin:	n/a	n/a
12	CHD1	chr21:47517617-47521975	IMR90	lung:	n/a	chr21:47518570-47518580 chr21:47518877-47518887
13	CTCF	chr21:47519420-47519570	AG10803	skin:	n/a	chr21:47519453-47519466
14	RAD21	chr21:47519344-47519714	H1-hESC	embryonic stem cell:	n/a	chr21:47519453-47519467
15	CTCF	chr21:47519400-47519550	AG04449	skin:	n/a	chr21:47519453-47519466
16	RAD21	chr21:47519252-47519955	IMR90	lung:	n/a	chr21:47519453-47519467
17	CTCF	chr21:47519400-47519550	BJ	skin:	n/a	chr21:47519453-47519466
18	CTCF	chr21:47519420-47519570	AoAF	blood vessel:	n/a	chr21:47519453-47519466
19	CTCF	chr21:47519420-47519570	AG09319	gingival:	n/a	chr21:47519453-47519466
20	CTCF	chr21:47519400-47519550	HA-sp	spinal cord:	n/a	chr21:47519453-47519466
21	CTCF	chr21:47519400-47519550	AG09309	skin:	n/a	chr21:47519453-47519466
22	ZNF143	chr21:47519423-47519589	H1-hESC	embryonic stem cell:	n/a	chr21:47519554-47519572
23	CTCF	chr21:47519420-47519570	AG04449	skin:	n/a	chr21:47519453-47519466
24	CTCF	chr21:47519400-47519550	HPF	lung:	n/a	chr21:47519453-47519466
25	CTCF	chr21:47519440-47519590	SK-N-SH_RA	brain:	n/a	chr21:47519453-47519466
26	CTCF	chr21:47519400-47519550	AG04450	lung:	n/a	chr21:47519453-47519466
27	CTCF	chr21:47519400-47519550	HCPEpiC	choroid plexus:	n/a	chr21:47519453-47519466
28	CTCF	chr21:47519420-47519570	HMF	breast:	n/a	chr21:47519453-47519466
29	CTCF	chr21:47519420-47519570	BJ	skin:	n/a	chr21:47519453-47519466
30	CTCF	chr21:47519420-47519570	HVMF	connective:	n/a	chr21:47519453-47519466

Variant related genes	Relation type
ENSG00000227438	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11700478	0.93[ASN][1000 genomes]
rs1475915	0.93[ASN][1000 genomes]
rs2070957	0.82[AMR][1000 genomes]
rs2277816	0.94[ASN][1000 genomes]
rs2277817	0.84[ASN][1000 genomes]
rs55783934	0.94[ASN][1000 genomes]
rs7277514	0.93[ASN][1000 genomes]
rs73382426	0.91[ASN][1000 genomes]
rs9637213	0.92[ASN][1000 genomes]
rs9680123	0.83[ASN][1000 genomes]
rs9680145	0.94[ASN][1000 genomes]
rs9975177	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
2	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
4	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
6	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
8	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
9	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
10	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
11	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
12	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
13	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats 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	95 gene(s)	inside rSNPs	n/a
14	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS 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 miRNA target site	95 gene(s)	inside rSNPs	n/a
15	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
16	nsv1062861	chr21:47434057-47568806	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
17	nsv914098	chr21:47467894-47619784	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
18	nsv525728	chr21:47472641-47583506	Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
19	nsv1061087	chr21:47476088-47643219	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a
20	nsv1065749	chr21:47486147-47561797	Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
21	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
22	nsv914099	chr21:47491014-47548011	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
23	nsv914100	chr21:47491014-47582102	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
24	nsv914101	chr21:47491014-47650362	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription 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	21 gene(s)	inside rSNPs	n/a
25	nsv914102	chr21:47505084-47589099	Strong transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
26	nsv914103	chr21:47507689-47589099	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
27	nsv914104	chr21:47512330-47589099	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
28	nsv587943	chr21:47514885-47546244	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
29	nsv914105	chr21:47514885-47589099	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
30	nsv914106	chr21:47514885-47603465	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
31	nsv914107	chr21:47514885-47605335	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
32	nsv914108	chr21:47514885-47609677	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
33	esv3428417	chr21:47516899-47519772	Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47516400-47519600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
2	chr21:47517000-47519600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr21:47517000-47520000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:47517000-47520400	Active TSS	Colon Smooth Muscle	Colon
5	chr21:47517200-47519600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr21:47517200-47519600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr21:47517200-47519600	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr21:47517200-47519600	Active TSS	HSMM	muscle
9	chr21:47517200-47519800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:47517200-47520000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr21:47517200-47520000	Active TSS	HSMMtube	muscle
12	chr21:47517200-47520600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:47517400-47519600	Active TSS	Right Atrium	heart
14	chr21:47517400-47519800	Active TSS	Aorta	Aorta
15	chr21:47517400-47520000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr21:47517400-47520000	Active TSS	Left Ventricle	heart
17	chr21:47517400-47520000	Active TSS	Ovary	ovary
18	chr21:47517400-47520200	Active TSS	Osteobl	bone
19	chr21:47517400-47520400	Active TSS	Rectal Smooth Muscle	rectum
20	chr21:47517600-47519600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr21:47517600-47519600	Active TSS	Pancreas	Pancrea
22	chr21:47517600-47519800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr21:47517600-47519800	Bivalent/Poised TSS	Esophagus	oesophagus
24	chr21:47517600-47520000	Active TSS	NH-A	brain
25	chr21:47517600-47520400	Active TSS	NHLF	lung
26	chr21:47517800-47520600	Bivalent/Poised TSS	Colonic Mucosa	Colon
27	chr21:47517800-47520600	Active TSS	Stomach Smooth Muscle	stomach
28	chr21:47518000-47519600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
29	chr21:47518000-47519600	Active TSS	Gastric	stomach
30	chr21:47518200-47519600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:47518200-47521000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr21:47518600-47520000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr21:47518600-47520200	Bivalent/Poised TSS	Psoas Muscle	Psoas
34	chr21:47518600-47520400	Active TSS	NHDF-Ad	bronchial
35	chr21:47518800-47519600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr21:47518800-47519600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr21:47518800-47519600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr21:47518800-47519800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr21:47518800-47519800	Bivalent/Poised TSS	Placenta	Placenta
40	chr21:47518800-47520000	Bivalent/Poised TSS	Fetal Thymus	thymus
41	chr21:47518800-47520000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr21:47518800-47520400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr21:47518800-47521000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:47519000-47519600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr21:47519000-47520200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr21:47519000-47520600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
47	chr21:47519200-47519600	Enhancers	Lung	lung
48	chr21:47519200-47520000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
49	chr21:47519200-47520000	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr21:47519200-47520200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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