Variant report

Variant	rs55637516
Chromosome Location	chr21:46403021-46403022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46399144..46400887-chr21:46402281..46403943,2	MCF-7	breast:
2	chr21:46402401..46405520-chr21:46493172..46497205,9	K562	blood:
3	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
4	chr21:46345114..46348414-chr21:46402860..46406775,3	MCF-7	breast:
5	chr21:46402184..46405162-chr21:46924152..46926827,2	K562	blood:
6	chr21:46402082..46405824-chr21:46407367..46410963,5	K562	blood:
7	chr21:46401222..46403244-chr21:46420854..46422539,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235374	Chromatin interaction
ENSG00000182871	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs2838748	0.86[AMR][1000 genomes]
rs2877002	1.00[EUR][1000 genomes]
rs421557	0.86[AMR][1000 genomes]
rs427907	1.00[ASN][1000 genomes]
rs55633511	0.93[AMR][1000 genomes]
rs55705724	0.93[AMR][1000 genomes]
rs55766163	1.00[EUR][1000 genomes]
rs55775492	0.93[AMR][1000 genomes]
rs55835776	0.93[AMR][1000 genomes]
rs55989453	0.93[AMR][1000 genomes]
rs57590377	1.00[EUR][1000 genomes]
rs57677709	0.93[AMR][1000 genomes]
rs57835164	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58009782	1.00[EUR][1000 genomes]
rs58206199	1.00[EUR][1000 genomes]
rs58929845	0.93[AMR][1000 genomes]
rs58951027	0.93[AMR][1000 genomes]
rs59163354	0.93[AMR][1000 genomes]
rs59226008	0.93[AMR][1000 genomes]
rs59267673	0.93[AMR][1000 genomes]
rs59573927	0.93[AMR][1000 genomes]
rs59586139	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60725487	0.93[AMR][1000 genomes]
rs61018933	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7276874	0.93[AMR][1000 genomes]
rs7278617	0.93[AMR][1000 genomes]
rs7279913	1.00[EUR][1000 genomes]
rs7283630	0.93[AMR][1000 genomes]
rs7283920	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906981	0.93[AMR][1000 genomes]
rs73906983	0.93[AMR][1000 genomes]
rs73906984	0.86[AMR][1000 genomes]
rs73907002	0.93[AMR][1000 genomes]
rs73907203	1.00[EUR][1000 genomes]
rs73907212	1.00[EUR][1000 genomes]
rs73909903	0.93[AMR][1000 genomes]
rs73909905	0.93[AMR][1000 genomes]
rs73909911	0.93[AMR][1000 genomes]
rs8130435	0.93[AMR][1000 genomes]
rs8133480	1.00[EUR][1000 genomes]
rs8134093	1.00[EUR][1000 genomes]
rs879479	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 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
34	esv3425007	chr21:46401149-46403697	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
35	esv3511399	chr21:46401424-46403372	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46382800-46404800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:46390200-46403200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr21:46390200-46406400	Weak transcription	Brain Anterior Caudate	brain
4	chr21:46390400-46408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr21:46391000-46403600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr21:46393000-46409200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr21:46395200-46411400	Weak transcription	Liver	Liver
8	chr21:46395400-46404000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr21:46397000-46411400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr21:46397200-46403400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr21:46397200-46404400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr21:46397200-46404400	Weak transcription	Brain Hippocampus Middle	brain
13	chr21:46397400-46404200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr21:46397600-46405000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr21:46397800-46404400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr21:46397800-46407400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr21:46398000-46404000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:46398000-46409000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr21:46398200-46404400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr21:46398200-46404800	Weak transcription	Brain Germinal Matrix	brain
21	chr21:46398200-46405000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr21:46398200-46405800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:46398200-46407600	Weak transcription	Dnd41	blood
24	chr21:46398400-46414000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr21:46399600-46404800	Weak transcription	Fetal Intestine Small	intestine
26	chr21:46399800-46404400	Weak transcription	Adipose Nuclei	Adipose
27	chr21:46400000-46408600	Weak transcription	Colon Smooth Muscle	Colon
28	chr21:46400600-46403600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr21:46400600-46404200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr21:46400600-46408200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr21:46401400-46404800	Weak transcription	Thymus	Thymus
32	chr21:46402200-46404800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr21:46402200-46406200	Enhancers	Fetal Lung	lung
34	chr21:46402400-46403200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr21:46402400-46403200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr21:46402400-46403200	Enhancers	Hela-S3	cervix
37	chr21:46402400-46403400	Enhancers	Fetal Stomach	stomach
38	chr21:46402400-46403600	Enhancers	Left Ventricle	heart
39	chr21:46402400-46403600	Enhancers	Lung	lung
40	chr21:46402400-46403600	Enhancers	Right Atrium	heart
41	chr21:46402400-46403800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr21:46402400-46403800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr21:46402400-46403800	Enhancers	HMEC	breast
44	chr21:46402400-46403800	Enhancers	NH-A	brain
45	chr21:46402400-46404200	Flanking Active TSS	HepG2	liver
46	chr21:46402400-46404800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr21:46402400-46405000	Enhancers	Fetal Muscle Trunk	muscle
48	chr21:46402400-46405400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr21:46402400-46405600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr21:46402400-46405600	Enhancers	Right Ventricle	heart

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