Variant report

Variant	rs59351600
Chromosome Location	chr1:45772513-45772514
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr1:45771942-45772541	GM12878	blood:	n/a	n/a
2	EP300	chr1:45771896-45772545	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:45771771-45772530	GM12892	blood:	n/a	n/a
4	RUNX3	chr1:45771843-45772529	GM12878	blood:	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	chr1:45264598..45267243-chr1:45772513..45774527,2	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
ENSG00000173846	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1007005	1.00[AMR][1000 genomes]
rs1561794	1.00[AMR][1000 genomes]
rs1892476	1.00[AMR][1000 genomes]
rs2211646	1.00[AMR][1000 genomes]
rs3219497	1.00[AMR][1000 genomes]
rs57755658	1.00[AMR][1000 genomes]
rs58600794	1.00[AMR][1000 genomes]
rs58829168	1.00[AMR][1000 genomes]
rs59089628	1.00[AMR][1000 genomes]
rs59682873	1.00[AMR][1000 genomes]
rs59975097	1.00[AMR][1000 genomes]
rs60123910	1.00[AMR][1000 genomes]
rs60789611	1.00[AMR][1000 genomes]
rs61542654	1.00[AMR][1000 genomes]
rs72890576	1.00[AMR][1000 genomes]
rs72890601	1.00[AMR][1000 genomes]
rs72892514	1.00[AMR][1000 genomes]
rs72892526	1.00[AMR][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:27 , 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	chr1:45771200-45775800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:45771400-45773000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:45771600-45772800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:45771600-45772800	Flanking Active TSS	GM12878-XiMat	blood
10	chr1:45771800-45772600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:45771800-45772800	Enhancers	HUVEC	blood vessel
12	chr1:45771800-45773000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:45771800-45773000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:45771800-45773600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:45772000-45772600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:45772000-45772600	Enhancers	NH-A	brain
17	chr1:45772000-45772800	Enhancers	Primary B cells from cord blood	blood
18	chr1:45772000-45772800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr1:45772000-45772800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:45772000-45773000	Enhancers	NHEK	skin
21	chr1:45772200-45772600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr1:45772200-45772600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:45772200-45772600	Enhancers	NHDF-Ad	bronchial
24	chr1:45772200-45773000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:45772200-45773600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:45772400-45772600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:45772400-45773600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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