Variant report

Variant	rs8131248
Chromosome Location	chr21:44882683-44882684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr21:44882612-44883364	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr21:44882660-44882810	AG04450	lung:	n/a	n/a
3	YY1	chr21:44882661-44883231	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44855643..44857176-chr21:44881790..44884286,2	MCF-7	breast:
2	chr21:44879951..44883027-chr21:44884564..44887090,3	K562	blood:
3	chr21:44869058..44871883-chr21:44880673..44882826,2	MCF-7	breast:
4	chr21:44875350..44876902-chr21:44881874..44883499,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223975	TF binding region
ENSG00000188660	Chromatin interaction
ENSG00000223975	Chromatin interaction
ENSG00000185186	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17004550	1.00[EUR][1000 genomes]
rs57444840	0.83[AMR][1000 genomes]
rs73906571	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906577	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906578	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906579	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906580	0.86[AFR][1000 genomes]
rs73906581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9974901	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
6	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv470901	chr21:44781356-44884252	Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
9	nsv913849	chr21:44817248-44925334	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
10	nsv913852	chr21:44829087-44925334	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv913859	chr21:44831981-44884252	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
12	nsv913860	chr21:44831981-44925334	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
13	nsv913867	chr21:44835508-44925334	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
14	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
15	nsv913872	chr21:44860542-44925334	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
16	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
17	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44859400-44883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:44871000-44882800	Weak transcription	Brain Germinal Matrix	brain
3	chr21:44876600-44883600	Weak transcription	NH-A	brain
4	chr21:44877000-44884200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr21:44877600-44882800	Weak transcription	Brain Hippocampus Middle	brain
6	chr21:44877600-44882800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr21:44877600-44882800	Weak transcription	Psoas Muscle	Psoas
8	chr21:44877600-44883000	Weak transcription	HSMMtube	muscle
9	chr21:44877600-44883400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr21:44877600-44883800	Weak transcription	Right Atrium	heart
11	chr21:44877600-44886000	Weak transcription	Brain Anterior Caudate	brain
12	chr21:44878200-44883600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr21:44878600-44883400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr21:44878800-44882800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:44878800-44886400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr21:44879000-44882800	Weak transcription	Esophagus	oesophagus
17	chr21:44879000-44889200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr21:44879400-44889400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:44880200-44883400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:44880200-44883400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr21:44880200-44884600	Enhancers	Fetal Lung	lung
22	chr21:44880200-44885000	Enhancers	Lung	lung
23	chr21:44880200-44885600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr21:44880400-44884800	Enhancers	Fetal Stomach	stomach
25	chr21:44880600-44884600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr21:44880600-44890800	Enhancers	HepG2	liver
27	chr21:44881000-44883000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:44881000-44883600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr21:44881000-44885600	Enhancers	Pancreas	Pancrea
30	chr21:44881600-44882800	Weak transcription	Placenta	Placenta
31	chr21:44881600-44884600	Enhancers	A549	lung
32	chr21:44881800-44884000	Enhancers	Fetal Muscle Leg	muscle
33	chr21:44881800-44885000	ZNF genes & repeats	Fetal Intestine Large	intestine
34	chr21:44882200-44882800	Weak transcription	Gastric	stomach
35	chr21:44882200-44883200	Enhancers	Ovary	ovary
36	chr21:44882200-44883400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr21:44882200-44883400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr21:44882200-44883400	Enhancers	Stomach Smooth Muscle	stomach
39	chr21:44882200-44883600	Enhancers	Stomach Mucosa	stomach
40	chr21:44882200-44883600	Weak transcription	Spleen	Spleen
41	chr21:44882200-44884000	Enhancers	Fetal Brain Female	brain
42	chr21:44882200-44886400	Enhancers	Liver	Liver
43	chr21:44882400-44882800	Weak transcription	Fetal Intestine Small	intestine
44	chr21:44882400-44883000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr21:44882600-44883000	Weak transcription	Adipose Nuclei	Adipose
46	chr21:44882600-44883000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr21:44882600-44884000	Enhancers	Fetal Brain Male	brain
48	chr21:44882600-44891200	Weak transcription	Rectal Smooth Muscle	rectum

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