Variant report

Variant	rs59586139
Chromosome Location	chr21:46408112-46408113
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46406555..46409539-chr21:46486674..46489359,3	K562	blood:
2	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
3	chr21:46388304..46391941-chr21:46405140..46408230,3	MCF-7	breast:
4	chr21:46402082..46405824-chr21:46407367..46410963,5	K562	blood:
5	chr21:46405717..46408357-chr21:46412799..46415611,3	MCF-7	breast:
6	chr21:46358494..46360065-chr21:46406757..46408742,2	K562	blood:
7	chr21:46407421..46409322-chr21:46410205..46412558,2	K562	blood:
8	chr21:46407611..46411462-chr21:46414818..46416864,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160256	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000261706	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000234880	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs2838748	0.93[AMR][1000 genomes]
rs2877002	1.00[EUR][1000 genomes]
rs421557	0.93[AMR][1000 genomes]
rs55633511	1.00[AMR][1000 genomes]
rs55637516	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55705724	1.00[AMR][1000 genomes]
rs55766163	1.00[EUR][1000 genomes]
rs55775492	1.00[AMR][1000 genomes]
rs55835776	1.00[AMR][1000 genomes]
rs55989453	1.00[AMR][1000 genomes]
rs57590377	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57677709	1.00[AMR][1000 genomes]
rs57835164	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58009782	1.00[EUR][1000 genomes]
rs58206199	1.00[EUR][1000 genomes]
rs58929845	1.00[AMR][1000 genomes]
rs58951027	1.00[AMR][1000 genomes]
rs59163354	1.00[AMR][1000 genomes]
rs59226008	1.00[AMR][1000 genomes]
rs59267673	1.00[AMR][1000 genomes]
rs59573927	1.00[AMR][1000 genomes]
rs60725487	1.00[AMR][1000 genomes]
rs61018933	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61674083	0.86[AMR][1000 genomes]
rs7276874	1.00[AMR][1000 genomes]
rs7278617	1.00[AMR][1000 genomes]
rs7279913	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7283630	1.00[AMR][1000 genomes]
rs7283920	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906981	1.00[AMR][1000 genomes]
rs73906983	1.00[AMR][1000 genomes]
rs73906984	0.93[AMR][1000 genomes]
rs73906985	0.86[AMR][1000 genomes]
rs73907002	1.00[AMR][1000 genomes]
rs73907203	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73907212	1.00[EUR][1000 genomes]
rs73909903	1.00[AMR][1000 genomes]
rs73909905	1.00[AMR][1000 genomes]
rs73909911	0.86[AMR][1000 genomes]
rs8130435	1.00[AMR][1000 genomes]
rs8133480	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8134093	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs879479	1.00[AMR][1000 genomes];1.00[EUR][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	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	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription 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	32 gene(s)	inside rSNPs	diseases
3	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
9	nsv1064518	chr21:46317690-46413159	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913981	chr21:46344426-46408790	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv913982	chr21:46344426-46430792	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
16	nsv913984	chr21:46344426-46435610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv913983	chr21:46344426-46440385	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv913985	chr21:46344426-46448142	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
20	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
21	nsv913988	chr21:46356816-46408790	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv913989	chr21:46356816-46430792	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
23	nsv913990	chr21:46356816-46448142	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
24	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
25	nsv544480	chr21:46364856-46413159	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	nsv913992	chr21:46366547-46408790	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
27	nsv913993	chr21:46376528-46448142	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	13 gene(s)	inside rSNPs	diseases
28	nsv913994	chr21:46376528-46454391	Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
29	nsv913995	chr21:46376528-46466674	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
30	nsv913996	chr21:46383941-46459432	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
31	nsv913997	chr21:46383941-46472929	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
32	nsv913998	chr21:46393090-46441947	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
33	nsv587818	chr21:46396960-46448253	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46390400-46408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr21:46393000-46409200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr21:46395200-46411400	Weak transcription	Liver	Liver
4	chr21:46397000-46411400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr21:46398000-46409000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr21:46398400-46414000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr21:46400000-46408600	Weak transcription	Colon Smooth Muscle	Colon
8	chr21:46400600-46408200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:46402400-46409200	Enhancers	Fetal Heart	heart
10	chr21:46402400-46410600	Enhancers	Spleen	Spleen
11	chr21:46402400-46421800	Enhancers	Fetal Muscle Leg	muscle
12	chr21:46403000-46409000	Weak transcription	Gastric	stomach
13	chr21:46403000-46410800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:46403200-46408200	Weak transcription	Esophagus	oesophagus
15	chr21:46403600-46409000	Weak transcription	Left Ventricle	heart
16	chr21:46403600-46414000	Weak transcription	Right Atrium	heart
17	chr21:46403800-46409000	Weak transcription	Ovary	ovary
18	chr21:46403800-46409000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr21:46403800-46412600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr21:46404200-46418400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr21:46404400-46413800	Bivalent Enhancer	Fetal Stomach	stomach
22	chr21:46405000-46409000	Enhancers	Stomach Smooth Muscle	stomach
23	chr21:46405000-46410200	Weak transcription	Lung	lung
24	chr21:46405200-46408800	Weak transcription	Fetal Intestine Small	intestine
25	chr21:46405400-46409000	Weak transcription	Brain Germinal Matrix	brain
26	chr21:46405600-46408800	Weak transcription	Right Ventricle	heart
27	chr21:46405600-46413400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr21:46406000-46408200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr21:46406000-46408400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr21:46406200-46409200	Weak transcription	Brain Hippocampus Middle	brain
31	chr21:46406400-46408200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr21:46406400-46411400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr21:46406600-46409200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr21:46406800-46411400	Weak transcription	HSMM	muscle
35	chr21:46406800-46411600	Weak transcription	HSMMtube	muscle
36	chr21:46407000-46409000	Weak transcription	Placenta	Placenta
37	chr21:46407200-46409400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr21:46407200-46410400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr21:46407200-46415000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:46407200-46416000	Enhancers	Fetal Lung	lung
41	chr21:46407400-46411600	Enhancers	Rectal Smooth Muscle	rectum
42	chr21:46407600-46408200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr21:46407600-46408200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr21:46407600-46409400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr21:46407600-46410800	Enhancers	Dnd41	blood
46	chr21:46407600-46413000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr21:46407800-46408200	Bivalent/Poised TSS	HepG2	liver
48	chr21:46408000-46408400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr21:46408000-46408400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell

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