Variant report

Variant	rs57205597
Chromosome Location	chr21:46236675-46236676
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46231216..46239677-chr21:46289090..46295542,14	K562	blood:
2	chr21:46232702..46239829-chr21:46289967..46296620,21	MCF-7	breast:
3	chr21:46231904..46241990-chr21:46492035..46500735,28	K562	blood:
4	chr21:46235456..46237470-chr21:46274330..46277506,4	K562	blood:
5	chr21:46235954..46239342-chr21:46346367..46350296,5	K562	blood:
6	chr21:46233611..46237296-chr21:46352613..46355418,3	K562	blood:
7	chr21:46234565..46238085-chr21:46349825..46353215,3	MCF-7	breast:
8	chr21:46235459..46240790-chr21:46329963..46334235,7	MCF-7	breast:
9	chr21:46234037..46237833-chr21:46295592..46298389,4	K562	blood:
10	chr19:56185115..56186636-chr21:46236479..46238156,2	MCF-7	breast:
11	chr21:46235517..46239255-chr21:46289829..46295572,6	K562	blood:
12	chr21:46235651..46239241-chr21:46493223..46495632,4	MCF-7	breast:
13	chr21:46235456..46237269-chr21:46361591..46363708,2	K562	blood:
14	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
15	chr21:46233435..46239577-chr21:46329843..46334353,8	MCF-7	breast:
16	chr21:46234752..46239628-chr21:46345760..46349592,8	MCF-7	breast:
17	chr21:46234824..46239565-chr21:46284858..46289652,5	K562	blood:
18	chr19:13228183..13231183-chr21:46235955..46238098,3	K562	blood:
19	chr21:46186765..46188429-chr21:46235591..46237706,2	K562	blood:
20	chr21:46236119..46237973-chr6:33239831..33242378,2	K562	blood:
21	chr21:46235731..46237391-chr21:46308953..46310486,2	K562	blood:
22	chr21:46204105..46208556-chr21:46233916..46237563,3	K562	blood:
23	chr21:46236285..46239693-chr21:46357237..46360614,5	K562	blood:
24	chr21:46235785..46239443-chr21:46357143..46362674,8	MCF-7	breast:
25	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:
26	chr21:46235394..46237991-chr21:46340879..46344165,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000160877	Chromatin interaction
ENSG00000063245	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000267523	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000227039	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000104907	Chromatin interaction
ENSG00000183255	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11911014	0.81[AMR][1000 genomes]
rs11911580	0.91[AMR][1000 genomes]
rs11911583	0.81[AMR][1000 genomes]
rs13433443	0.81[AMR][1000 genomes]
rs1555002	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555003	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60685574	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61602523	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9975401	0.81[AMR][1000 genomes]
rs9975507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9975777	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9979741	0.89[AFR][1000 genomes]
rs9981327	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9984211	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers 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	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv459298	chr21:46223847-46277968	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv587813	chr21:46223847-46277968	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv913963	chr21:46223847-46277968	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv913966	chr21:46229393-46261390	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
13	esv3345023	chr21:46236474-46239372	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
14	esv3410893	chr21:46236549-46239397	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46222600-46237200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:46222800-46237200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:46230000-46237200	Weak transcription	Fetal Kidney	kidney
4	chr21:46230600-46237200	Weak transcription	Aorta	Aorta
5	chr21:46230600-46237200	Weak transcription	Brain Angular Gyrus	brain
6	chr21:46231200-46237000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr21:46231600-46236800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr21:46233000-46237000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr21:46233000-46237000	Weak transcription	HMEC	breast
10	chr21:46233000-46237000	Weak transcription	NH-A	brain
11	chr21:46233200-46237000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr21:46233600-46236800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr21:46233800-46237000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:46233800-46237000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr21:46233800-46237200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr21:46234000-46237000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr21:46234000-46237000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr21:46234000-46237000	Weak transcription	Fetal Thymus	thymus
19	chr21:46234000-46237200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr21:46234200-46237000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr21:46234200-46237000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr21:46234400-46237000	Enhancers	Osteobl	bone
23	chr21:46234600-46237000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr21:46234600-46237000	Enhancers	NHDF-Ad	bronchial
25	chr21:46234800-46237000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr21:46234800-46237000	Enhancers	Adipose Nuclei	Adipose
27	chr21:46234800-46237000	Enhancers	Brain Anterior Caudate	brain
28	chr21:46235000-46236800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr21:46235000-46237000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr21:46235000-46237000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr21:46235000-46237000	Enhancers	Left Ventricle	heart
32	chr21:46235000-46237200	Enhancers	Primary T cells fromperipheralblood	blood
33	chr21:46235000-46237200	Enhancers	Liver	Liver
34	chr21:46235200-46236800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr21:46235200-46237000	Enhancers	Placenta	Placenta
36	chr21:46235400-46236800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr21:46235400-46237000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr21:46235400-46237000	Enhancers	Colon Smooth Muscle	Colon
39	chr21:46235400-46237200	Weak transcription	HSMMtube	muscle
40	chr21:46235600-46237000	Enhancers	Fetal Muscle Trunk	muscle
41	chr21:46235600-46237400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr21:46235600-46237600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr21:46235800-46237000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr21:46235800-46237000	Enhancers	Fetal Muscle Leg	muscle
45	chr21:46235800-46237200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr21:46235800-46237200	Enhancers	Brain Cingulate Gyrus	brain
47	chr21:46235800-46238200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr21:46236000-46236800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr21:46236000-46236800	Weak transcription	Thymus	Thymus
50	chr21:46236000-46237000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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