Variant report

Variant	rs62214524
Chromosome Location	chr21:46404870-46404871
allele	C/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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46389436..46392310-chr21:46403984..46406454,4	MCF-7	breast:
2	chr21:46403435..46406407-chr21:46422534..46424245,2	MCF-7	breast:
3	chr21:46402401..46405520-chr21:46493172..46497205,9	K562	blood:
4	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
5	chr21:46403497..46405382-chr21:46569107..46570791,2	MCF-7	breast:
6	chr21:46345114..46348414-chr21:46402860..46406775,3	MCF-7	breast:
7	chr21:46404868..46406891-chr21:46493201..46494761,3	MCF-7	breast:
8	chr21:46387514..46391451-chr21:46403174..46406984,4	K562	blood:
9	chr21:46402184..46405162-chr21:46924152..46926827,2	K562	blood:
10	chr21:46402082..46405824-chr21:46407367..46410963,5	K562	blood:
11	chr21:46403400..46405755-chr21:46408780..46410930,3	MCF-7	breast:
12	chr21:46369016..46372190-chr21:46404293..46406354,3	K562	blood:
13	chr21:46389652..46391762-chr21:46403635..46406291,3	K562	blood:

No data

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

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11701589	0.91[ASN][1000 genomes]
rs11702098	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11702235	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2012438	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2838751	0.87[ASN][1000 genomes]
rs36221483	0.87[ASN][1000 genomes]
rs4819003	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55849327	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55959820	0.87[ASN][1000 genomes]
rs62214521	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62214522	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62214523	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7279521	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs914205	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs928304	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs928305	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs928308	0.90[EUR][1000 genomes];0.90[ASN][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46390200-46406400	Weak transcription	Brain Anterior Caudate	brain
2	chr21:46390400-46408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr21:46393000-46409200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr21:46395200-46411400	Weak transcription	Liver	Liver
5	chr21:46397000-46411400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr21:46397600-46405000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr21:46397800-46407400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr21:46398000-46409000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr21:46398200-46405000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr21:46398200-46405800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:46398200-46407600	Weak transcription	Dnd41	blood
12	chr21:46398400-46414000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:46400000-46408600	Weak transcription	Colon Smooth Muscle	Colon
14	chr21:46400600-46408200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:46402200-46406200	Enhancers	Fetal Lung	lung
16	chr21:46402400-46405000	Enhancers	Fetal Muscle Trunk	muscle
17	chr21:46402400-46405400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr21:46402400-46405600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr21:46402400-46405600	Enhancers	Right Ventricle	heart
20	chr21:46402400-46406400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr21:46402400-46406800	Enhancers	HSMM	muscle
22	chr21:46402400-46406800	Enhancers	HSMMtube	muscle
23	chr21:46402400-46407000	Enhancers	Placenta	Placenta
24	chr21:46402400-46409200	Enhancers	Fetal Heart	heart
25	chr21:46402400-46410600	Enhancers	Spleen	Spleen
26	chr21:46402400-46421800	Enhancers	Fetal Muscle Leg	muscle
27	chr21:46402600-46405000	Enhancers	Fetal Brain Male	brain
28	chr21:46403000-46409000	Weak transcription	Gastric	stomach
29	chr21:46403000-46410800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr21:46403200-46405400	Weak transcription	NHEK	skin
31	chr21:46403200-46408200	Weak transcription	Esophagus	oesophagus
32	chr21:46403600-46405400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr21:46403600-46409000	Weak transcription	Left Ventricle	heart
34	chr21:46403600-46414000	Weak transcription	Right Atrium	heart
35	chr21:46403800-46405000	Weak transcription	HMEC	breast
36	chr21:46403800-46409000	Weak transcription	Ovary	ovary
37	chr21:46403800-46409000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr21:46403800-46412600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr21:46404000-46405200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr21:46404200-46405200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr21:46404200-46405400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr21:46404200-46405800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr21:46404200-46418400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr21:46404400-46405000	Enhancers	Lung	lung
45	chr21:46404400-46405200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr21:46404400-46405200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr21:46404400-46405400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr21:46404400-46405600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr21:46404400-46406200	Enhancers	Adipose Nuclei	Adipose
50	chr21:46404400-46406400	Enhancers	Skeletal Muscle Female	skeletal muscle

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