Variant report

Variant	rs12483247
Chromosome Location	chr21:47486252-47486253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47485799..47487872-chr21:47511862..47514238,2	K562	blood:
2	chr21:47486054..47488058-chr21:47490628..47493448,2	MCF-7	breast:
3	chr21:47483689..47485600-chr21:47485621..47488078,2	K562	blood:

Variant related genes	Relation type
ENSG00000233767	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12481743	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13048850	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13051923	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13052100	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4819196	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56284934	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	nsv459310	chr21:47409503-47488387	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
17	nsv587935	chr21:47409503-47488387	Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
18	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
19	nsv531548	chr21:47439416-47516220	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
20	nsv914097	chr21:47445791-47505084	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
21	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
22	nsv519834	chr21:47472641-47503311	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
23	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
24	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
25	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47483000-47488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:47483800-47488600	Enhancers	Fetal Muscle Leg	muscle
3	chr21:47484000-47488400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr21:47484000-47488400	Enhancers	Placenta	Placenta
5	chr21:47484200-47486400	Enhancers	Spleen	Spleen
6	chr21:47484200-47487000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:47484200-47488200	Enhancers	Rectal Smooth Muscle	rectum
8	chr21:47484800-47486400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr21:47484800-47486400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr21:47484800-47487200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
11	chr21:47484800-47487400	Enhancers	Colonic Mucosa	Colon
12	chr21:47484800-47487400	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr21:47484800-47488000	Bivalent Enhancer	Fetal Intestine Large	intestine
14	chr21:47484800-47488200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:47484800-47488600	Enhancers	Fetal Stomach	stomach
16	chr21:47484800-47488800	Enhancers	Ovary	ovary
17	chr21:47484800-47489400	Enhancers	Fetal Lung	lung
18	chr21:47485000-47486400	Enhancers	Lung	lung
19	chr21:47485000-47487200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr21:47485000-47487400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr21:47485000-47487600	Enhancers	Pancreas	Pancrea
22	chr21:47485000-47487600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr21:47485000-47487800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:47485000-47488600	Enhancers	Right Ventricle	heart
25	chr21:47485200-47486400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:47485200-47486400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:47485200-47486400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr21:47485200-47486600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr21:47485200-47486600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:47485200-47486800	Flanking Active TSS	Osteobl	bone
31	chr21:47485200-47487000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:47485200-47487200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr21:47485200-47487200	Flanking Active TSS	NHDF-Ad	bronchial
34	chr21:47485200-47487200	Bivalent Enhancer	NHEK	skin
35	chr21:47485200-47487600	Enhancers	HSMMtube	muscle
36	chr21:47485200-47488000	Bivalent Enhancer	Fetal Intestine Small	intestine
37	chr21:47485200-47488000	Enhancers	Placenta Amnion	Placenta Amnion
38	chr21:47485200-47517400	Weak transcription	Right Atrium	heart
39	chr21:47485400-47486400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr21:47485400-47486400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr21:47485400-47486800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr21:47485400-47487400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr21:47485400-47488400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr21:47485600-47486400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr21:47485600-47486600	Enhancers	Liver	Liver
46	chr21:47485600-47487200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:47485600-47487200	Enhancers	Fetal Brain Female	brain
48	chr21:47485600-47487800	Enhancers	Left Ventricle	heart
49	chr21:47485800-47486400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr21:47485800-47487200	Enhancers	Fetal Brain Male	brain

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