Variant report

Variant	rs2317384
Chromosome Location	chr17:45329770-45329771
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	CTCF	chr17:45329640-45329790	Caco-2	colon:	n/a	n/a
2	JUND	chr17:45329518-45329951	HepG2	liver:	n/a	n/a
3	BRCA1	chr17:45329710-45330212	HepG2	liver:	n/a	n/a
4	USF2	chr17:45329685-45329937	Hela-S3	cervix:	n/a	chr17:45329777-45329788
5	RCOR1	chr17:45329561-45329977	HepG2	liver:	n/a	n/a
6	FOXA1	chr17:45329441-45329977	HepG2	liver:	n/a	n/a
7	MAX	chr17:45329620-45329954	HepG2	liver:	n/a	n/a
8	FOXA1	chr17:45329260-45329945	HepG2	liver:	n/a	n/a
9	FOXA2	chr17:45329441-45329908	HepG2	liver:	n/a	n/a
10	USF1	chr17:45329628-45329901	HepG2	liver:	n/a	n/a
11	CTCF	chr17:45329720-45329870	HepG2	liver:	n/a	n/a
12	POLR2A	chr17:45329614-45330029	HepG2	liver:	n/a	n/a
13	HNF4G	chr17:45329575-45329954	HepG2	liver:	n/a	chr17:45329787-45329802 chr17:45329788-45329802 chr17:45329786-45329804 chr17:45329789-45329802 chr17:45329788-45329803 chr17:45329787-45329802 chr17:45329789-45329801 chr17:45329787-45329802 chr17:45329789-45329801 chr17:45329599-45329607 chr17:45329788-45329801 chr17:45329789-45329801
14	HNF4A	chr17:45329545-45329960	HepG2	liver:	n/a	chr17:45329787-45329802 chr17:45329788-45329802 chr17:45329786-45329804 chr17:45329789-45329802 chr17:45329787-45329802 chr17:45329787-45329802 chr17:45329789-45329801 chr17:45329787-45329802 chr17:45329789-45329801 chr17:45329599-45329607 chr17:45329788-45329801 chr17:45329789-45329801
15	USF2	chr17:45329619-45329960	HepG2	liver:	n/a	chr17:45329777-45329788
16	HNF4A	chr17:45329575-45329929	HepG2	liver:	n/a	chr17:45329787-45329802 chr17:45329788-45329802 chr17:45329786-45329804 chr17:45329789-45329802 chr17:45329787-45329802 chr17:45329787-45329802 chr17:45329789-45329801 chr17:45329787-45329802 chr17:45329789-45329801 chr17:45329599-45329607 chr17:45329788-45329801 chr17:45329789-45329801
17	USF1	chr17:45329510-45329933	HepG2	liver:	n/a	n/a
18	CEBPB	chr17:45329432-45329893	HepG2	liver:	n/a	chr17:45329581-45329592 chr17:45329583-45329594
19	CTCF	chr17:45329760-45329910	HEK293	kidney:	n/a	n/a
20	FOXA1	chr17:45329430-45329956	HepG2	liver:	n/a	n/a
21	RFX5	chr17:45329555-45329805	HepG2	liver:	n/a	n/a
22	SP1	chr17:45329575-45330067	HepG2	liver:	n/a	n/a
23	ARID3A	chr17:45329531-45329934	HepG2	liver:	n/a	n/a
24	USF1	chr17:45329582-45330019	ECC-1	luminal epithelium:	n/a	n/a
25	USF1	chr17:45329510-45329893	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45326928..45330471-chr17:45335403..45338279,3	K562	blood:

Variant related genes	Relation type
ENSG00000259753	TF binding region
ITGB3	TF binding region
ENSG00000238419	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1009312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10438781	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10438782	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11871251	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12937929	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34182248	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34492688	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35069360	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35125273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35439279	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35704663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3809862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4144744	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144745	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4144746	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4541130	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55677902	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55827077	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6504788	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6504789	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6504790	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66738981	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67080286	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67544603	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67615769	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67923812	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208055	0.81[EUR][1000 genomes]
rs7208170	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210182	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7211563	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7218524	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7218773	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7222617	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7223003	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7223766	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225134	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823474	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer 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 miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45314200-45330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:45318600-45330600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:45318600-45331200	Weak transcription	HSMMtube	muscle
4	chr17:45323000-45330600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:45324400-45329800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:45326800-45330800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr17:45328200-45330400	Weak transcription	Adipose Nuclei	Adipose
8	chr17:45328600-45329800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr17:45328600-45329800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr17:45328600-45330200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr17:45328600-45330200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr17:45328600-45330600	Enhancers	Fetal Intestine Small	intestine
13	chr17:45328600-45330600	Enhancers	K562	blood
14	chr17:45328600-45330800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr17:45328800-45332200	Enhancers	Fetal Heart	heart
16	chr17:45329000-45330800	Enhancers	Fetal Intestine Large	intestine
17	chr17:45329400-45329800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:45329400-45330200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
19	chr17:45329400-45330200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:45329400-45330400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
21	chr17:45329400-45330400	Flanking Active TSS	HepG2	liver
22	chr17:45329400-45330600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:45329400-45330800	Enhancers	Placenta	Placenta
24	chr17:45329400-45331200	Enhancers	Liver	Liver
25	chr17:45329600-45329800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:45329600-45329800	Enhancers	Ovary	ovary
27	chr17:45329600-45329800	Enhancers	Right Atrium	heart
28	chr17:45329600-45330000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr17:45329600-45330000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
30	chr17:45329600-45330000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr17:45329600-45330200	Enhancers	Left Ventricle	heart
32	chr17:45329600-45330400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr17:45329600-45330600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr17:45329600-45330600	Enhancers	NHDF-Ad	bronchial
35	chr17:45329600-45330800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:45329600-45330800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:45329600-45330800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:45329600-45330800	Enhancers	Aorta	Aorta
39	chr17:45329600-45330800	Enhancers	Right Ventricle	heart

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