Variant report

Variant	rs4818981
Chromosome Location	chr21:46297827-46297828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr21:46297630-46297904	MCF10A-Er-Src	breast:	n/a	n/a
2	TBL1XR1	chr21:46297691-46297866	K562	blood:	n/a	n/a
3	MYBL2	chr21:46297669-46299080	HepG2	liver:	n/a	n/a
4	POLR2A	chr21:46297802-46298083	HepG2	liver:	n/a	n/a
5	HEY1	chr21:46297505-46299131	HepG2	liver:	n/a	n/a
6	YY1	chr21:46297740-46298217	HepG2	liver:	n/a	chr21:46298025-46298037
7	YY1	chr21:46297749-46298177	HepG2	liver:	n/a	chr21:46298025-46298037
8	MYBL2	chr21:46297670-46298979	HepG2	liver:	n/a	n/a
9	POLR2A	chr21:46297517-46299077	HepG2	liver:	n/a	n/a
10	E2F4	chr21:46297780-46298241	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:46296431..46298855-chr21:46300114..46303046,3	K562	blood:
2	chr21:46231802..46234012-chr21:46295564..46298055,2	K562	blood:
3	chr21:46296431..46298316-chr21:46299911..46303046,4	K562	blood:
4	chr21:46271436..46274134-chr21:46295574..46298347,2	K562	blood:
5	chr21:46235322..46239751-chr21:46297172..46299366,5	MCF-7	breast:
6	chr21:46297404..46300174-chr21:46309190..46311154,2	MCF-7	breast:
7	chr21:46255862..46258104-chr21:46297344..46299707,2	K562	blood:
8	chr21:46295409..46298827-chr21:46311338..46314521,3	K562	blood:
9	chr21:46234037..46237833-chr21:46295592..46298389,4	K562	blood:
10	chr21:46296897..46299873-chr21:46358375..46361456,3	K562	blood:
11	chr21:46292609..46295460-chr21:46295899..46299289,8	K562	blood:
12	chr21:46297060..46299984-chr21:46306627..46308180,2	MCF-7	breast:
13	chr21:46296513..46298780-chr21:46329471..46332191,2	K562	blood:

No data

Variant related genes	Relation type
PTTG1IP	TF binding region
ENSG00000160255	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000183255	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2282116	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs33973568	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34037159	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34449239	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34552233	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34897870	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3753015	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4818738	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4818982	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4818983	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55831723	0.81[AMR][1000 genomes]
rs57064200	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
3	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
4	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
5	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
6	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
7	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
8	nsv913968	chr21:46249752-46301008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription 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	20 gene(s)	inside rSNPs	diseases
9	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription 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	21 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv544479	chr21:46280467-46323401	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	nsv470907	chr21:46283669-46306161	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Weak transcription 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	18 gene(s)	inside rSNPs	diseases
14	nsv459299	chr21:46283669-46311264	Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv459300	chr21:46283669-46311264	Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv587814	chr21:46283669-46311264	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46294400-46298600	Weak transcription	Small Intestine	intestine
2	chr21:46294800-46298200	Weak transcription	Spleen	Spleen
3	chr21:46294800-46300600	Weak transcription	Fetal Kidney	kidney
4	chr21:46295200-46299600	Weak transcription	Brain Substantia Nigra	brain
5	chr21:46295200-46300200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:46295200-46301200	Weak transcription	Pancreas	Pancrea
7	chr21:46295200-46301400	Weak transcription	Lung	lung
8	chr21:46295200-46302600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:46295200-46304200	Weak transcription	Esophagus	oesophagus
10	chr21:46295400-46298400	Enhancers	HepG2	liver
11	chr21:46295400-46300600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:46295600-46298000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr21:46295600-46298200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr21:46295600-46298200	Weak transcription	Stomach Mucosa	stomach
15	chr21:46295600-46298200	Weak transcription	A549	lung
16	chr21:46295600-46298200	Weak transcription	NHEK	skin
17	chr21:46295600-46298400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr21:46295600-46298600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr21:46295600-46299600	Weak transcription	Brain Hippocampus Middle	brain
20	chr21:46295600-46299800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr21:46295600-46299800	Weak transcription	HSMMtube	muscle
22	chr21:46295600-46300200	Weak transcription	NH-A	brain
23	chr21:46295600-46300400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:46295600-46300600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr21:46295600-46300800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:46295600-46300800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr21:46295600-46338800	Weak transcription	Right Atrium	heart
28	chr21:46295800-46299600	Weak transcription	Primary T cells from cord blood	blood
29	chr21:46295800-46300600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr21:46295800-46300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr21:46295800-46301200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr21:46295800-46301400	Weak transcription	Brain Anterior Caudate	brain
33	chr21:46295800-46303600	Enhancers	Primary B cells from cord blood	blood
34	chr21:46296000-46298200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr21:46296000-46298200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr21:46296000-46299400	Enhancers	Fetal Intestine Small	intestine
37	chr21:46296000-46299600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr21:46296000-46299800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr21:46296000-46299800	Weak transcription	Fetal Thymus	thymus
40	chr21:46296000-46300000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr21:46296000-46300000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr21:46296000-46300000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr21:46296000-46300000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr21:46296000-46300000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr21:46296000-46300000	Weak transcription	HSMM	muscle
46	chr21:46296000-46300200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr21:46296000-46300200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr21:46296000-46300200	Weak transcription	HMEC	breast
49	chr21:46296000-46300200	Weak transcription	Osteobl	bone
50	chr21:46296000-46300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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