Variant report

Variant	rs59339575
Chromosome Location	chr21:45150155-45150156
allele	A/G/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	POLR2A	chr21:45150127-45150317	K562	blood:	n/a	n/a
2	POLR2A	chr21:45146212-45150537	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:44297829..44300678-chr21:45147311..45150231,2	K562	blood:
2	chr21:45148918..45151033-chr21:45195012..45197870,3	MCF-7	breast:
3	chr21:45146930..45150669-chr21:45163613..45169103,5	K562	blood:

Variant related genes	Relation type
PDXK	TF binding region
ENSG00000160194	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000160193	Chromatin interaction
ENSG00000160209	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28490099	1.00[EUR][1000 genomes]
rs28581805	1.00[EUR][1000 genomes]
rs57815996	1.00[EUR][1000 genomes]
rs61299327	1.00[EUR][1000 genomes]
rs6383	1.00[EUR][1000 genomes]
rs73908377	1.00[EUR][1000 genomes]
rs73908383	1.00[EUR][1000 genomes]
rs8127335	1.00[EUR][1000 genomes]
rs8129408	1.00[EUR][1000 genomes]
rs8129421	1.00[EUR][1000 genomes]
rs8132097	1.00[EUR][1000 genomes]
rs8132862	1.00[EUR][1000 genomes]
rs9974076	1.00[EUR][1000 genomes]
rs9978334	1.00[EUR][1000 genomes]
rs9979923	1.00[EUR][1000 genomes]
rs9984929	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv3424986	chr21:45118675-45158421	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv3329872	chr21:45118725-45158757	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv913875	chr21:45119629-45191005	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv587701	chr21:45128190-45181446	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv459290	chr21:45128454-45191139	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv587702	chr21:45128454-45191139	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv913877	chr21:45133868-45163689	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv913878	chr21:45133868-45170285	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	esv1828675	chr21:45142427-45191139	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
15	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
17	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
18	nsv1055154	chr21:45148076-45203162	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45146000-45163600	Weak transcription	Dnd41	blood
2	chr21:45148800-45153400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr21:45149000-45150400	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr21:45149000-45194400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr21:45149200-45151200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr21:45149200-45151200	Enhancers	Stomach Mucosa	stomach
7	chr21:45149200-45152600	Strong transcription	Hela-S3	cervix
8	chr21:45149200-45153200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr21:45149400-45150200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr21:45149400-45150400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr21:45149400-45151000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr21:45149400-45151200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr21:45149400-45151200	Weak transcription	Small Intestine	intestine
14	chr21:45149400-45151400	Weak transcription	Psoas Muscle	Psoas
15	chr21:45149400-45153000	Weak transcription	Primary T cells from cord blood	blood
16	chr21:45149400-45153200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr21:45149400-45153400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr21:45149400-45157600	Weak transcription	Aorta	Aorta
19	chr21:45149400-45175400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr21:45149600-45150200	Strong transcription	NHEK	skin
21	chr21:45149600-45150400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:45149600-45150400	Weak transcription	Fetal Thymus	thymus
23	chr21:45149600-45150600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr21:45149600-45151000	Weak transcription	Liver	Liver
25	chr21:45149600-45151000	Weak transcription	Brain Anterior Caudate	brain
26	chr21:45149600-45151000	Weak transcription	Lung	lung
27	chr21:45149600-45151000	Weak transcription	Right Ventricle	heart
28	chr21:45149600-45151200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr21:45149600-45151200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr21:45149600-45151200	Enhancers	Duodenum Mucosa	Duodenum
31	chr21:45149600-45151200	Weak transcription	Esophagus	oesophagus
32	chr21:45149600-45151200	Weak transcription	Pancreas	Pancrea
33	chr21:45149600-45151200	Weak transcription	HSMM	muscle
34	chr21:45149600-45151200	Weak transcription	Osteobl	bone
35	chr21:45149600-45151400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:45149600-45151400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr21:45149600-45151400	Weak transcription	Brain Substantia Nigra	brain
38	chr21:45149600-45151400	Weak transcription	Gastric	stomach
39	chr21:45149600-45151400	Weak transcription	Left Ventricle	heart
40	chr21:45149600-45151400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr21:45149600-45151400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr21:45149600-45151400	Weak transcription	Spleen	Spleen
43	chr21:45149600-45151600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr21:45149600-45151600	Enhancers	Fetal Intestine Large	intestine
45	chr21:45149600-45151600	Enhancers	HMEC	breast
46	chr21:45149600-45151600	Weak transcription	NHDF-Ad	bronchial
47	chr21:45149600-45151800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr21:45149600-45151800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr21:45149600-45151800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr21:45149600-45151800	Enhancers	Adipose Nuclei	Adipose

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