Variant report

Variant	rs73985447
Chromosome Location	chr17:46043794-46043795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr17:46043391-46043879	HepG2	liver:	n/a	chr17:46043737-46043750 chr17:46043735-46043750 chr17:46043737-46043750 chr17:46043735-46043750
2	POLR2A	chr17:46043611-46043947	HepG2	liver:	n/a	n/a
3	CEBPB	chr17:46043581-46043853	A549	lung:	n/a	n/a
4	POLR2A	chr17:46043788-46043929	A549	lung:	n/a	n/a
5	FOS	chr17:46043654-46043854	MCF10A-Er-Src	breast:	n/a	n/a
6	SMC3	chr17:46043546-46043835	HepG2	liver:	n/a	n/a
7	HDAC2	chr17:46043545-46043906	HepG2	liver:	n/a	chr17:46043591-46043600
8	STAT1	chr17:46043493-46043925	Hela-S3	cervix:	n/a	chr17:46043710-46043721 chr17:46043824-46043832 chr17:46043712-46043720
9	STAT3	chr17:46043515-46043916	MCF10A-Er-Src	breast:	n/a	chr17:46043824-46043832 chr17:46043710-46043721 chr17:46043712-46043720
10	STAT3	chr17:46043471-46043901	MCF10A-Er-Src	breast:	n/a	chr17:46043824-46043832 chr17:46043710-46043721 chr17:46043712-46043720
11	SPI1	chr17:46043773-46043874	K562	blood:	n/a	n/a
12	FOS	chr17:46043674-46043861	MCF10A-Er-Src	breast:	n/a	n/a
13	CEBPB	chr17:46043572-46043887	HepG2	liver:	n/a	n/a
14	STAT3	chr17:46043565-46043876	MCF10A-Er-Src	breast:	n/a	chr17:46043824-46043832 chr17:46043710-46043721 chr17:46043712-46043720
15	POLR2A	chr17:46043720-46043927	HepG2	liver:	n/a	n/a
16	MYBL2	chr17:46043388-46043951	HepG2	liver:	n/a	n/a
17	HNF4G	chr17:46043530-46043938	HepG2	liver:	n/a	chr17:46043737-46043750 chr17:46043737-46043750 chr17:46043735-46043750
18	HNF4A	chr17:46043572-46043903	HepG2	liver:	n/a	chr17:46043737-46043750 chr17:46043735-46043750 chr17:46043737-46043750 chr17:46043735-46043750
19	STAT3	chr17:46043530-46043896	MCF10A-Er-Src	breast:	n/a	chr17:46043824-46043832 chr17:46043710-46043721 chr17:46043712-46043720
20	HNF4G	chr17:46043451-46043928	HepG2	liver:	n/a	chr17:46043737-46043750 chr17:46043737-46043750 chr17:46043735-46043750
21	HEY1	chr17:46043520-46043960	HepG2	liver:	n/a	n/a
22	POLR2A	chr17:46043581-46043989	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:46041301..46044030-chr17:46048146..46051314,3	MCF-7	breast:
2	chr17:46042235..46044126-chr17:46090847..46093838,2	K562	blood:
3	chr17:46039634..46045111-chr17:46046533..46049867,10	K562	blood:
4	chr17:46031321..46037809-chr17:46043555..46050276,13	K562	blood:
5	chr17:46040813..46045111-chr17:46046677..46049654,4	K562	blood:
6	chr17:46043414..46046355-chr17:46124548..46126704,2	MCF-7	breast:
7	chr17:46030056..46036320-chr17:46039939..46045055,5	K562	blood:

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

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12945362	0.80[AFR][1000 genomes]
rs34737931	1.00[AMR][1000 genomes]
rs35928933	0.80[AFR][1000 genomes]
rs71377338	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:44 , 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	chr17:46038000-46043800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr17:46038000-46046400	Weak transcription	K562	blood
17	chr17:46039600-46047600	Weak transcription	Primary T cells from cord blood	blood
18	chr17:46042800-46044200	Enhancers	Liver	Liver
19	chr17:46042800-46044200	Enhancers	Colon Smooth Muscle	Colon
20	chr17:46042800-46045000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr17:46042800-46045800	Enhancers	Ovary	ovary
22	chr17:46042800-46047800	Weak transcription	Small Intestine	intestine
23	chr17:46043000-46045800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:46043000-46045800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:46043000-46046400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:46043000-46047800	Enhancers	Pancreas	Pancrea
27	chr17:46043000-46047800	Enhancers	Stomach Mucosa	stomach
28	chr17:46043200-46043800	Weak transcription	Esophagus	oesophagus
29	chr17:46043200-46043800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr17:46043200-46044800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr17:46043200-46044800	Weak transcription	Placenta	Placenta
32	chr17:46043200-46046400	Weak transcription	Gastric	stomach
33	chr17:46043400-46043800	Weak transcription	Colonic Mucosa	Colon
34	chr17:46043400-46044000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:46043400-46044000	Flanking Active TSS	HepG2	liver
36	chr17:46043400-46044800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr17:46043400-46044800	Enhancers	A549	lung
38	chr17:46043400-46045000	Enhancers	Hela-S3	cervix
39	chr17:46043400-46045400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr17:46043600-46043800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:46043600-46044200	Enhancers	HSMMtube	muscle
42	chr17:46043600-46044800	Weak transcription	Lung	lung
43	chr17:46043600-46045600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr17:46043600-46046000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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