Variant report

Variant	rs72890537
Chromosome Location	chr1:45772338-45772339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr1:45771911-45772389	GM12878	blood:	n/a	n/a
2	CREB1	chr1:45771937-45772477	GM12878	blood:	n/a	n/a
3	MTA3	chr1:45771819-45772477	GM12878	blood:	n/a	n/a
4	ZNF384	chr1:45772070-45772492	GM12878	blood:	n/a	n/a
5	EBF1	chr1:45771822-45772353	GM12878	blood:	n/a	chr1:45772077-45772088 chr1:45772065-45772076
6	PAX5	chr1:45771970-45772356	GM12878	blood:	n/a	n/a
7	RELA	chr1:45771912-45772410	GM12891	blood:	n/a	n/a
8	SPI1	chr1:45771942-45772541	GM12878	blood:	n/a	n/a
9	NFIC	chr1:45771707-45772486	GM12878	blood:	n/a	n/a
10	CUX1	chr1:45771911-45772361	GM12878	blood:	n/a	n/a
11	STAT5A	chr1:45771892-45772388	GM12878	blood:	n/a	n/a
12	NFATC1	chr1:45771815-45772496	GM12878	blood:	n/a	n/a
13	TBL1XR1	chr1:45771932-45772408	GM12878	blood:	n/a	n/a
14	SPI1	chr1:45772051-45772463	GM12891	blood:	n/a	n/a
15	EP300	chr1:45771896-45772545	GM12878	blood:	n/a	n/a
16	SPI1	chr1:45772214-45772377	GM12878	blood:	n/a	n/a
17	PML	chr1:45771807-45772422	GM12878	blood:	n/a	n/a
18	BATF	chr1:45772129-45772386	GM12878	blood:	n/a	n/a
19	SPI1	chr1:45772042-45772488	GM12891	blood:	n/a	n/a
20	ATF2	chr1:45771845-45772464	GM12878	blood:	n/a	n/a
21	SRF	chr1:45771975-45772387	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:45771966-45772345	GM12878	blood:	n/a	n/a
23	NFIC	chr1:45771870-45772444	GM12878	blood:	n/a	n/a
24	YY1	chr1:45771953-45772386	GM12878	blood:	n/a	n/a
25	TAF1	chr1:45771912-45772458	GM12878	blood:	n/a	n/a
26	FOXM1	chr1:45771848-45772466	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:45771905-45772395	GM12892	blood:	n/a	n/a
28	YY1	chr1:45771892-45772352	GM12878	blood:	n/a	n/a
29	RUNX3	chr1:45771892-45772452	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:45771958-45772509	U87	brain:	n/a	n/a
31	BCLAF1	chr1:45771888-45772393	GM12878	blood:	n/a	n/a
32	SPI1	chr1:45772162-45772471	GM12878	blood:	n/a	n/a
33	EP300	chr1:45771945-45772355	GM12878	blood:	n/a	n/a
34	RELA	chr1:45771915-45772367	GM19193	blood:	n/a	n/a
35	CREB1	chr1:45771953-45772467	GM12878	blood:	n/a	n/a
36	SP1	chr1:45771862-45772386	GM12878	blood:	n/a	n/a
37	FOS	chr1:45772145-45772446	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr1:45768852-45772461	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:45771771-45772530	GM12892	blood:	n/a	n/a
40	BHLHE40	chr1:45771920-45772484	GM12878	blood:	n/a	n/a
41	ELK1	chr1:45771929-45772382	GM12878	blood:	n/a	n/a
42	USF2	chr1:45772034-45772411	GM12878	blood:	n/a	n/a
43	POU2F2	chr1:45771843-45772436	GM12878	blood:	n/a	n/a
44	EBF1	chr1:45771473-45772455	GM12878	blood:	n/a	chr1:45772077-45772088 chr1:45772065-45772076
45	POLR2A	chr1:45772073-45772440	U87	brain:	n/a	n/a
46	RUNX3	chr1:45771843-45772529	GM12878	blood:	n/a	n/a
47	RELA	chr1:45771813-45772375	GM19099	blood:	n/a	n/a
48	PAX5	chr1:45771861-45772343	GM12878	blood:	n/a	n/a
49	RELA	chr1:45771836-45772359	GM12878	blood:	n/a	n/a
50	FOS	chr1:45772080-45772504	HUVEC	blood vessel:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45767877..45774853-chr1:45802459..45807372,12	K562	blood:
2	chr1:45476357..45485239-chr1:45761850..45773601,48	K562	blood:
3	chr1:45450947..45453129-chr1:45770139..45772507,2	K562	blood:
4	chr1:45186092..45187903-chr1:45772051..45774036,3	K562	blood:
5	chr1:45772005..45773547-chr1:45986746..45988790,2	MCF-7	breast:
6	chr1:45282609..45288514-chr1:45767803..45773154,13	K562	blood:
7	chr1:45476265..45486633-chr1:45761064..45774272,63	K562	blood:

No data

Variant related genes	Relation type
ZSWIM5	TF binding region
ENSG00000132773	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000070785	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000126107	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs28472700	1.00[AMR][1000 genomes]
rs55786026	1.00[AMR][1000 genomes]
rs56015816	1.00[AMR][1000 genomes]
rs56328440	1.00[AMR][1000 genomes]
rs56359961	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59831088	1.00[AMR][1000 genomes]
rs6686117	1.00[EUR][1000 genomes]
rs6692066	1.00[AMR][1000 genomes]
rs72890556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890585	1.00[AMR][1000 genomes]
rs72890600	1.00[AMR][1000 genomes]
rs74072235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7519633	1.00[AMR][1000 genomes]
rs7549045	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7554112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7555357	1.00[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	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised 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	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45770400-45772600	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:45770600-45772600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:45770600-45772600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:45770600-45773000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:45770600-45773200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:45770800-45772400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:45771200-45772400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:45771200-45775800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:45771400-45773000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:45771600-45772800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:45771600-45772800	Flanking Active TSS	GM12878-XiMat	blood
12	chr1:45771800-45772400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:45771800-45772400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:45771800-45772600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:45771800-45772800	Enhancers	HUVEC	blood vessel
16	chr1:45771800-45773000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:45771800-45773000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:45771800-45773600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:45772000-45772400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:45772000-45772400	Enhancers	Osteobl	bone
21	chr1:45772000-45772600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:45772000-45772600	Enhancers	NH-A	brain
23	chr1:45772000-45772800	Enhancers	Primary B cells from cord blood	blood
24	chr1:45772000-45772800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:45772000-45772800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:45772000-45773000	Enhancers	NHEK	skin
27	chr1:45772200-45772400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:45772200-45772400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:45772200-45772400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:45772200-45772400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:45772200-45772400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:45772200-45772400	Enhancers	Fetal Thymus	thymus
33	chr1:45772200-45772600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr1:45772200-45772600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:45772200-45772600	Enhancers	NHDF-Ad	bronchial
36	chr1:45772200-45773000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:45772200-45773600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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