Variant report

Variant	rs17880618
Chromosome Location	chr1:45267258-45267259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:45267156-45268769	K562	blood:	n/a	n/a
2	MAZ	chr1:45267257-45267398	K562	blood:	n/a	n/a
3	POLR2A	chr1:45267245-45267433	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:45267162-45267863	K562	blood:	n/a	n/a
5	POLR2A	chr1:45267248-45270541	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:45267200-45267393	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr1:45265036-45267289	HepG2	liver:	n/a	n/a
8	ZNF263	chr1:45267168-45267436	HEK293-T-REx	kidney:	n/a	chr1:45267235-45267256
9	POLR2A	chr1:45267257-45267727	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45205245..45207359-chr1:45265556..45268016,2	MCF-7	breast:
2	chr1:45264279..45267905-chr1:45476139..45480748,9	K562	blood:
3	chr1:45194731..45198369-chr1:45262951..45267593,8	MCF-7	breast:
4	chr1:45186012..45189065-chr1:45262922..45268915,8	MCF-7	breast:
5	chr1:45262923..45267744-chr1:45767225..45772183,8	K562	blood:
6	chr1:45138566..45141370-chr1:45265919..45267652,2	K562	blood:
7	chr1:45194156..45199355-chr1:45264282..45268731,9	MCF-7	breast:
8	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
9	chr1:45265558..45267516-chr1:45964222..45967034,2	K562	blood:
10	chr1:45239609..45242950-chr1:45264036..45267552,6	MCF-7	breast:
11	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
12	chr1:45264355..45267553-chr1:45476139..45481796,8	K562	blood:
13	chr1:45264684..45267553-chr1:45478723..45482931,4	MCF-7	breast:
14	chr1:45210802..45212965-chr1:45265931..45268698,2	K562	blood:
15	chr1:45248852..45254229-chr1:45263166..45267959,10	MCF-7	breast:
16	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:

No data

Variant related genes	Relation type
PLK3	TF binding region
ENSG00000234093	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000236624	Chromatin interaction
ENSG00000142959	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000132763	Chromatin interaction
ENSG00000126106	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000202031	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17884321	0.83[EUR][1000 genomes]
rs17885777	0.83[EUR][1000 genomes]
rs3795716	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
3	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
4	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
5	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
6	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
7	nsv461406	chr1:45218542-45293518	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
8	nsv546145	chr1:45218542-45293518	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
9	nsv870815	chr1:45233638-45318752	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
10	nsv546146	chr1:45258141-45318752	Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	109 gene(s)	inside rSNPs	diseases
11	nsv871320	chr1:45259295-45274841	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	58 gene(s)	inside rSNPs	diseases
12	nsv870773	chr1:45259295-45287306	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
13	nsv870876	chr1:45264545-45273531	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	56 gene(s)	inside rSNPs	diseases
14	nsv546147	chr1:45264874-45271097	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	44 gene(s)	inside rSNPs	diseases
15	esv3404071	chr1:45264890-45267738	Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45265200-45267600	Active TSS	Primary T cells from cord blood	blood
2	chr1:45265200-45267600	Active TSS	Brain Angular Gyrus	brain
3	chr1:45265200-45267600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:45265200-45267600	Active TSS	Brain Substantia Nigra	brain
5	chr1:45265200-45267600	Active TSS	Fetal Brain Female	brain
6	chr1:45265200-45267600	Active TSS	Rectal Smooth Muscle	rectum
7	chr1:45265200-45267600	Active TSS	Right Ventricle	heart
8	chr1:45265200-45267600	Active TSS	Thymus	Thymus
9	chr1:45265200-45267600	Active TSS	HSMM	muscle
10	chr1:45265200-45267800	Active TSS	Colon Smooth Muscle	Colon
11	chr1:45265200-45268200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:45265400-45267400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:45265400-45267400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr1:45265400-45267400	Active TSS	Fetal Intestine Large	intestine
15	chr1:45265400-45267600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:45265400-45267600	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:45265400-45267600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:45265400-45267600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:45265400-45267600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:45265400-45267600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:45265400-45267600	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr1:45265400-45267600	Active TSS	Muscle Satellite Cultured Cells	--
23	chr1:45265400-45267600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr1:45265400-45267600	Active TSS	Esophagus	oesophagus
25	chr1:45265400-45267600	Active TSS	Left Ventricle	heart
26	chr1:45265400-45267600	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr1:45265400-45267600	Active TSS	A549	lung
28	chr1:45265400-45267600	Active TSS	Hela-S3	cervix
29	chr1:45265400-45267600	Active TSS	Osteobl	bone
30	chr1:45265600-45267400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:45265600-45267600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:45265600-45267600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:45265600-45267600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:45265600-45267600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr1:45265600-45267600	Active TSS	Lung	lung
36	chr1:45265600-45267600	Active TSS	Small Intestine	intestine
37	chr1:45265600-45267600	Active TSS	HSMMtube	muscle
38	chr1:45265600-45267600	Active TSS	HUVEC	blood vessel
39	chr1:45265600-45267600	Active TSS	NH-A	brain
40	chr1:45265600-45267600	Active TSS	NHLF	lung
41	chr1:45265600-45267800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:45265600-45267800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:45265600-45267800	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr1:45265600-45267800	Active TSS	NHDF-Ad	bronchial
45	chr1:45265600-45268000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr1:45265600-45268200	Active TSS	Aorta	Aorta
47	chr1:45265600-45268200	Active TSS	Psoas Muscle	Psoas
48	chr1:45265600-45276600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:45265800-45267600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr1:45265800-45267600	Active TSS	HMEC	breast

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