Variant report

Variant	rs3788092
Chromosome Location	chr21:45376739-45376740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr21:45376194-45377119	HCT-116	colon:	n/a	chr21:45377070-45377084
2	MAFK	chr21:45376352-45376806	IMR90	lung:	n/a	chr21:45376523-45376538
3	FOS	chr21:45376394-45376979	HUVEC	blood vessel:	n/a	n/a
4	MTA3	chr21:45376512-45379577	GM12878	blood:	n/a	n/a
5	REST	chr21:45376527-45376905	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:45284903..45287648-chr21:45375062..45376826,2	MCF-7	breast:
2	chr21:45368054..45369734-chr21:45376607..45378241,2	K562	blood:
3	chr21:45230137..45233337-chr21:45376476..45379330,3	K562	blood:
4	chr21:45374823..45379974-chr21:45380727..45386042,6	K562	blood:
5	chr21:45370723..45373935-chr21:45374637..45377762,3	K562	blood:
6	chr21:45376632..45379343-chr21:45547274..45551016,3	K562	blood:
7	chr21:45358695..45359504-chr21:45376371..45377288,2	MCF-7	breast:
8	chr21:45375996..45377603-chr21:45380866..45383184,2	MCF-7	breast:

No data

Variant related genes	Relation type
AGPAT3	TF binding region
ENSG00000215458	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000241945	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2000788	0.93[ASN][1000 genomes]
rs2070544	0.90[ASN][1000 genomes]
rs2254072	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838447	0.88[ASN][1000 genomes]
rs2838449	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838450	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2838455	0.89[ASN][1000 genomes]
rs2838458	0.88[ASN][1000 genomes]
rs3788096	0.84[ASN][1000 genomes]
rs3827251	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4818874	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4818877	0.94[ASN][1000 genomes]
rs4819353	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4819354	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57524571	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59443212	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61033068	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61639188	0.94[EUR][1000 genomes]
rs915876	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974326	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9982600	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45343800-45379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr21:45359200-45378800	Weak transcription	NHEK	skin
3	chr21:45359200-45379000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr21:45359400-45389000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr21:45361000-45379200	Weak transcription	Ovary	ovary
6	chr21:45363600-45377000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr21:45364800-45378400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:45367200-45379200	Weak transcription	Fetal Brain Female	brain
9	chr21:45368400-45379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:45368400-45379800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr21:45369200-45379400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr21:45369400-45378200	Weak transcription	K562	blood
13	chr21:45369400-45378600	Weak transcription	HepG2	liver
14	chr21:45369400-45379800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:45369400-45388800	Weak transcription	Colon Smooth Muscle	Colon
16	chr21:45369600-45378200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:45369600-45379000	Weak transcription	Brain Angular Gyrus	brain
18	chr21:45369600-45379200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:45369600-45379400	Weak transcription	Aorta	Aorta
20	chr21:45369600-45381200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr21:45369800-45378200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr21:45369800-45379400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr21:45370000-45377200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:45370000-45377400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr21:45370000-45378200	Weak transcription	Dnd41	blood
26	chr21:45370000-45378600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr21:45370000-45379200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr21:45370000-45379600	Weak transcription	Brain Germinal Matrix	brain
29	chr21:45370000-45381200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:45370000-45384000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr21:45370000-45390200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr21:45370200-45378600	Weak transcription	Thymus	Thymus
33	chr21:45370200-45378800	Weak transcription	Primary T cells from cord blood	blood
34	chr21:45370400-45379400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr21:45370600-45377600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr21:45370600-45377800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr21:45371400-45379800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr21:45372600-45379000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr21:45372800-45380000	Weak transcription	Small Intestine	intestine
40	chr21:45373000-45379400	Weak transcription	Colonic Mucosa	Colon
41	chr21:45373000-45395200	Strong transcription	Fetal Intestine Small	intestine
42	chr21:45373800-45381000	Weak transcription	HSMM	muscle
43	chr21:45374200-45380200	Weak transcription	HSMMtube	muscle
44	chr21:45374400-45377200	Weak transcription	Fetal Brain Male	brain
45	chr21:45374400-45379000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr21:45374400-45392400	Weak transcription	Stomach Mucosa	stomach
47	chr21:45374600-45378400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr21:45374600-45378600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr21:45375000-45378200	Weak transcription	Esophagus	oesophagus
50	chr21:45375000-45379200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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