Variant report

Variant	rs4819165
Chromosome Location	chr21:47314553-47314554
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr21:47313091-47314978	SK-N-SH	brain:	n/a	chr21:47314499-47314508 chr21:47313222-47313238
2	REST	chr21:47314276-47314709	PFSK-1	brain:	n/a	n/a
3	REST	chr21:47314455-47314588	PFSK-1	brain:	n/a	n/a
4	RAD21	chr21:47314394-47314719	IMR90	lung:	n/a	n/a
5	REST	chr21:47314401-47314627	Hela-S3	cervix:	n/a	n/a
6	REST	chr21:47314278-47314725	U87	brain:	n/a	n/a
7	REST	chr21:47314358-47314623	K562	blood:	n/a	n/a
8	REST	chr21:47314312-47314661	SK-N-SH	brain:	n/a	n/a
9	REST	chr21:47314370-47314601	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr21:47314302-47314688	SK-N-SH	brain:	n/a	n/a
11	REST	chr21:47314375-47314683	PFSK-1	brain:	n/a	n/a
12	REST	chr21:47314397-47314654	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr21:47314383-47314625	U87	brain:	n/a	n/a
14	REST	chr21:47314286-47314682	PFSK-1	brain:	n/a	n/a
15	MXI1	chr21:47312652-47315085	SK-N-SH	brain:	n/a	n/a
16	MXI1	chr21:47313797-47314998	IMR90	lung:	n/a	n/a
17	RCOR1	chr21:47314098-47314774	IMR90	lung:	n/a	n/a
18	REST	chr21:47314434-47314624	Hela-S3	cervix:	n/a	n/a
19	REST	chr21:47314329-47314702	U87	brain:	n/a	n/a
20	REST	chr21:47314385-47314721	ECC-1	luminal epithelium:	n/a	n/a
21	REST	chr21:47314448-47314643	PANC-1	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47311846..47315136-chr21:47319001..47321928,3	K562	blood:

No data

Variant related genes	Relation type
PCBP3	TF binding region
ENSG00000183570	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17004794	1.00[ASN][1000 genomes]
rs55887015	1.00[ASN][1000 genomes]
rs56326504	1.00[ASN][1000 genomes]
rs66956709	1.00[ASN][1000 genomes]
rs7278814	1.00[ASN][1000 genomes]
rs73232742	1.00[ASN][1000 genomes]
rs7410155	1.00[ASN][1000 genomes]
rs9979831	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv428043	chr21:47179244-47471971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
9	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
10	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
11	esv2756755	chr21:47243032-47319768	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
12	esv2758821	chr21:47243032-47319768	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
13	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
14	nsv914081	chr21:47265786-47320805	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
15	nsv914082	chr21:47265786-47338007	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
16	nsv914083	chr21:47265786-47453954	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
17	nsv914084	chr21:47288453-47326666	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
18	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
19	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
20	nsv1062420	chr21:47311566-47347666	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47308000-47343000	Weak transcription	Right Atrium	heart
2	chr21:47311000-47314600	Enhancers	Spleen	Spleen
3	chr21:47311000-47315400	Bivalent Enhancer	Fetal Stomach	stomach
4	chr21:47311400-47314600	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr21:47311400-47316200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr21:47311400-47316200	Enhancers	Fetal Thymus	thymus
7	chr21:47311600-47315200	Enhancers	Thymus	Thymus
8	chr21:47312600-47314800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr21:47312600-47315200	Enhancers	HSMMtube	muscle
10	chr21:47313200-47315000	Enhancers	Placenta	Placenta
11	chr21:47313200-47315200	Enhancers	HSMM	muscle
12	chr21:47313200-47315800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr21:47313200-47335600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr21:47313400-47321000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:47313600-47314600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr21:47313600-47314600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:47313600-47314800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr21:47313600-47315000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr21:47313600-47315000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr21:47313600-47315000	Enhancers	NHDF-Ad	bronchial
21	chr21:47313600-47315200	Enhancers	Adipose Nuclei	Adipose
22	chr21:47313600-47316200	Enhancers	Fetal Muscle Leg	muscle
23	chr21:47313800-47314600	Enhancers	Brain Cingulate Gyrus	brain
24	chr21:47313800-47314800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:47313800-47314800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr21:47313800-47315000	Enhancers	Osteobl	bone
27	chr21:47313800-47315200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr21:47313800-47315200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr21:47313800-47321600	Weak transcription	Primary T cells from cord blood	blood
30	chr21:47314000-47314600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr21:47314000-47314600	Enhancers	Fetal Lung	lung
32	chr21:47314000-47314600	Enhancers	Rectal Smooth Muscle	rectum
33	chr21:47314000-47314800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr21:47314000-47315000	Enhancers	NH-A	brain
35	chr21:47314200-47314600	Enhancers	Colon Smooth Muscle	Colon
36	chr21:47314200-47314600	Enhancers	Fetal Brain Female	brain
37	chr21:47314200-47314600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr21:47314200-47314600	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr21:47314200-47314600	Enhancers	NHLF	lung
40	chr21:47314200-47314800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr21:47314200-47315600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr21:47314400-47314600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr21:47314400-47314600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr21:47314400-47315400	Weak transcription	Colonic Mucosa	Colon
45	chr21:47314400-47330200	Weak transcription	Brain Hippocampus Middle	brain

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