Variant report

Variant	rs72823509
Chromosome Location	chr17:46044589-46044590
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:5)
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	CEBPB	chr17:46044446-46044785	IMR90	lung:	n/a	n/a
2	RCOR1	chr17:46044490-46045839	IMR90	lung:	n/a	n/a
3	MAX	chr17:46044508-46045845	A549	lung:	n/a	n/a
4	CEBPB	chr17:46044527-46044786	A549	lung:	n/a	n/a
5	CEBPB	chr17:46044471-46044784	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:46039634..46045111-chr17:46046533..46049867,10	K562	blood:
2	chr17:46031321..46037809-chr17:46043555..46050276,13	K562	blood:
3	chr17:46040813..46045111-chr17:46046677..46049654,4	K562	blood:
4	chr17:46043414..46046355-chr17:46124548..46126704,2	MCF-7	breast:
5	chr17:46030056..46036320-chr17:46039939..46045055,5	K562	blood:

No data

Variant related genes	Relation type
CDK5RAP3	TF binding region
ENSG00000108465	Chromatin interaction
ENSG00000167183	Chromatin interaction
ENSG00000263412	Chromatin interaction
ENSG00000082641	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12951323	0.95[EUR][1000 genomes]
rs1986693	0.92[EUR][1000 genomes]
rs41280120	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4794321	0.95[EUR][1000 genomes]
rs61454280	1.00[ASN][1000 genomes]
rs7216504	0.82[EUR][1000 genomes]
rs72823513	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823527	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72823530	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72823534	0.82[EUR][1000 genomes]
rs72823591	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72823594	0.80[AMR][1000 genomes]
rs72823599	0.81[AMR][1000 genomes]
rs72823601	0.81[AMR][1000 genomes]
rs72825504	0.81[AMR][1000 genomes]
rs72833468	0.82[AMR][1000 genomes]
rs8067005	0.82[EUR][1000 genomes]
rs8067216	1.00[ASN][1000 genomes]
rs8073371	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	esv3363665	chr17:46044218-46044649	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46019800-46047600	Weak transcription	Aorta	Aorta
2	chr17:46027200-46047200	Weak transcription	Spleen	Spleen
3	chr17:46027600-46047400	Weak transcription	Right Ventricle	heart
4	chr17:46027600-46047600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr17:46028000-46047400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr17:46028000-46047600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:46030200-46045800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr17:46035000-46047400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr17:46036000-46047200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:46036600-46047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:46036800-46047400	Weak transcription	Thymus	Thymus
12	chr17:46037800-46047400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:46037800-46047400	Enhancers	Fetal Intestine Small	intestine
14	chr17:46037800-46047800	Enhancers	Fetal Intestine Large	intestine
15	chr17:46038000-46046400	Weak transcription	K562	blood
16	chr17:46039600-46047600	Weak transcription	Primary T cells from cord blood	blood
17	chr17:46042800-46045000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr17:46042800-46045800	Enhancers	Ovary	ovary
19	chr17:46042800-46047800	Weak transcription	Small Intestine	intestine
20	chr17:46043000-46045800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:46043000-46045800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:46043000-46046400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:46043000-46047800	Enhancers	Pancreas	Pancrea
24	chr17:46043000-46047800	Enhancers	Stomach Mucosa	stomach
25	chr17:46043200-46044800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr17:46043200-46044800	Weak transcription	Placenta	Placenta
27	chr17:46043200-46046400	Weak transcription	Gastric	stomach
28	chr17:46043400-46044800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr17:46043400-46044800	Enhancers	A549	lung
30	chr17:46043400-46045000	Enhancers	Hela-S3	cervix
31	chr17:46043400-46045400	Enhancers	Placenta Amnion	Placenta Amnion
32	chr17:46043600-46044800	Weak transcription	Lung	lung
33	chr17:46043600-46045600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:46043600-46046000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:46043800-46044800	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr17:46043800-46045800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:46043800-46045800	Enhancers	HMEC	breast
38	chr17:46043800-46045800	Enhancers	NHDF-Ad	bronchial
39	chr17:46044000-46044800	Weak transcription	Esophagus	oesophagus
40	chr17:46044000-46045000	Weak transcription	Colonic Mucosa	Colon
41	chr17:46044000-46045600	Enhancers	HepG2	liver
42	chr17:46044200-46044600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr17:46044200-46044800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:46044200-46044800	Weak transcription	Colon Smooth Muscle	Colon
45	chr17:46044200-46045200	Weak transcription	HSMMtube	muscle
46	chr17:46044200-46047600	Weak transcription	Liver	Liver
47	chr17:46044400-46045600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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