Variant report

Variant	rs59583855
Chromosome Location	chr17:45723984-45723985
allele	A/G
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	POLR2A	chr17:45723808-45724236	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45697869..45699408-chr17:45722972..45724595,2	K562	blood:
2	chr17:45719437..45724233-chr17:45725184..45728657,6	MCF-7	breast:

Variant related genes	Relation type
KPNB1	TF binding region
ENSG00000263766	Chromatin interaction
ENSG00000108424	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11079780	0.81[ASN][1000 genomes]
rs1136613	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1136614	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16942128	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16958421	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16969984	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56767960	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57517565	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59866241	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59911216	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60014739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61419652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8071832	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9789082	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
2	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45696600-45726000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr17:45696800-45726200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:45697000-45725800	Weak transcription	Brain Substantia Nigra	brain
4	chr17:45697200-45726000	Weak transcription	Brain Angular Gyrus	brain
5	chr17:45699400-45726000	Weak transcription	Brain Anterior Caudate	brain
6	chr17:45699400-45726200	Weak transcription	Fetal Kidney	kidney
7	chr17:45700000-45725600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:45700000-45725800	Weak transcription	Spleen	Spleen
9	chr17:45700400-45725800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr17:45700600-45725200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr17:45701400-45724800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:45701400-45725600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr17:45701400-45725800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr17:45701400-45725800	Weak transcription	Left Ventricle	heart
15	chr17:45701400-45726000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr17:45701800-45725600	Weak transcription	Thymus	Thymus
17	chr17:45702000-45725800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:45702000-45726200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:45702200-45725800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:45702400-45725800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr17:45702600-45725800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr17:45702600-45725800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr17:45702600-45726000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr17:45702800-45725800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:45702800-45725800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr17:45702800-45725800	Weak transcription	NHDF-Ad	bronchial
27	chr17:45702800-45726000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:45702800-45726000	Weak transcription	A549	lung
29	chr17:45702800-45726000	Weak transcription	HSMMtube	muscle
30	chr17:45703000-45724800	Weak transcription	Fetal Thymus	thymus
31	chr17:45703000-45725600	Weak transcription	Placenta	Placenta
32	chr17:45703600-45725800	Weak transcription	Brain Hippocampus Middle	brain
33	chr17:45704000-45726000	Weak transcription	Osteobl	bone
34	chr17:45704200-45724800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr17:45704400-45725800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr17:45704600-45726000	Weak transcription	Colon Smooth Muscle	Colon
37	chr17:45705200-45726000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:45706000-45724800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr17:45708000-45725800	Weak transcription	Pancreas	Pancrea
40	chr17:45712000-45726000	Weak transcription	NHEK	skin
41	chr17:45712200-45725800	Weak transcription	HMEC	breast
42	chr17:45712400-45725800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:45712600-45725600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:45714000-45725200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr17:45714000-45725200	Weak transcription	Liver	Liver
46	chr17:45714000-45725800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr17:45714000-45725800	Weak transcription	Fetal Intestine Large	intestine
48	chr17:45714200-45724400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr17:45714200-45724800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr17:45714200-45724800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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