Variant report

Variant	rs231017
Chromosome Location	chr17:15166651-15166652
allele	C/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	CTCF	chr17:15166540-15166690	HCPEpiC	choroid plexus:	n/a	n/a
2	YY1	chr17:15166431-15166899	SK-N-SH_RA	brain:	n/a	n/a
3	POLR2A	chr17:15163683-15166975	Hela-S3	cervix:	n/a	n/a
4	PBX3	chr17:15165648-15166981	SK-N-SH	brain:	n/a	n/a
5	FOSL2	chr17:15165603-15167148	A549	lung:	n/a	chr17:15166695-15166704 chr17:15166649-15166658
6	POLR2A	chr17:15163626-15167137	IMR90	lung:	n/a	n/a
7	RAD21	chr17:15163681-15167318	IMR90	lung:	n/a	chr17:15165861-15165873 chr17:15166929-15166941
8	HA-E2F1	chr17:15165436-15166982	MCF-7	breast:	n/a	chr17:15166247-15166256 chr17:15165823-15165830 chr17:15166646-15166653 chr17:15166645-15166656 chr17:15165816-15165826 chr17:15166646-15166654 chr17:15166645-15166655 chr17:15165658-15165667 chr17:15166646-15166654 chr17:15165850-15165861 chr17:15166646-15166657
9	BCL3	chr17:15164294-15167367	A549	lung:	n/a	chr17:15166341-15166354 chr17:15165839-15165852 chr17:15165814-15165827 chr17:15165831-15165844 chr17:15165654-15165667
10	CTCF	chr17:15166600-15166750	AG09319	gingival:	n/a	n/a
11	TEAD4	chr17:15166578-15166957	H1-hESC	embryonic stem cell:	n/a	chr17:15166842-15166851
12	POLR2A	chr17:15166423-15166895	HUVEC	blood vessel:	n/a	n/a
13	E2F6	chr17:15165641-15166899	H1-hESC	embryonic stem cell:	n/a	chr17:15166247-15166256 chr17:15165823-15165830 chr17:15166646-15166653 chr17:15166645-15166656 chr17:15165816-15165826 chr17:15166646-15166654 chr17:15166645-15166655 chr17:15165658-15165667 chr17:15166646-15166654 chr17:15165850-15165861 chr17:15166646-15166657
14	E2F6	chr17:15165234-15166993	A549	lung:	n/a	chr17:15166247-15166256 chr17:15165823-15165830 chr17:15166646-15166653 chr17:15165349-15165358 chr17:15166645-15166656 chr17:15165816-15165826 chr17:15166646-15166654 chr17:15166645-15166655 chr17:15165658-15165667 chr17:15166646-15166654 chr17:15165850-15165861 chr17:15166646-15166657
15	TAF1	chr17:15165530-15166799	A549	lung:	n/a	n/a
16	ZNF143	chr17:15166419-15167369	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr17:15165627-15166787	SK-N-SH	brain:	n/a	n/a
18	SMARCB1	chr17:15163769-15166895	Hela-S3	cervix:	n/a	n/a
19	TBP	chr17:15165835-15166872	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr17:15166618-15166829	MCF-7	breast:	n/a	n/a
21	RAD21	chr17:15163434-15167583	SK-N-SH	brain:	n/a	chr17:15165861-15165873 chr17:15166929-15166941
22	TEAD4	chr17:15166602-15166935	H1-hESC	embryonic stem cell:	n/a	chr17:15166842-15166851
23	SIN3AK20	chr17:15166385-15166855	A549	lung:	n/a	n/a
24	NFIC	chr17:15163497-15167079	SK-N-SH	brain:	n/a	chr17:15166620-15166637 chr17:15166620-15166636 chr17:15166607-15166623
25	JUND	chr17:15165667-15166891	A549	lung:	n/a	chr17:15166695-15166704 chr17:15166649-15166658
26	USF1	chr17:15166583-15166914	A549	lung:	n/a	n/a
27	POLR2A	chr17:15166483-15166861	A549	lung:	n/a	n/a
28	POLR2A	chr17:15165256-15167006	U87	brain:	n/a	n/a
29	CTCF	chr17:15166560-15166710	BJ	skin:	n/a	n/a
30	USF1	chr17:15166505-15166944	SK-N-SH_RA	brain:	n/a	n/a
31	RAD21	chr17:15165608-15166949	H1-hESC	embryonic stem cell:	n/a	chr17:15165861-15165873 chr17:15166929-15166941
32	EP300	chr17:15166383-15167034	A549	lung:	n/a	chr17:15166941-15166948
33	TCF7L2	chr17:15165756-15166935	HCT-116	colon:	n/a	n/a
34	POLR2A	chr17:15165563-15166668	HCT-116	colon:	n/a	n/a
35	POLR2A	chr17:15165399-15167043	U87	brain:	n/a	n/a
36	SP1	chr17:15165159-15167451	A549	lung:	n/a	chr17:15165200-15165213 chr17:15165368-15165382
37	BHLHE40	chr17:15166637-15166995	A549	lung:	n/a	n/a
38	POLR2A	chr17:15165540-15166949	A549	lung:	n/a	n/a
39	POLR2A	chr17:15165497-15166997	HUVEC	blood vessel:	n/a	n/a
40	RAD21	chr17:15166428-15167298	H1-hESC	embryonic stem cell:	n/a	chr17:15166929-15166941
41	SMARCC1	chr17:15163896-15166945	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr17:15166640-15166790	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr17:15163357-15167631	A549	lung:	n/a	chr17:15166140-15166147 chr17:15164224-15164237 chr17:15164251-15164264
44	MAZ	chr17:15163312-15167057	IMR90	lung:	n/a	chr17:15164861-15164870 chr17:15164860-15164870 chr17:15164862-15164869 chr17:15164860-15164871
45	CTBP2	chr17:15165427-15166784	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr17:15163389-15166899	PBDE	blood:	n/a	n/a
47	E2F6	chr17:15165504-15166917	A549	lung:	n/a	chr17:15166247-15166256 chr17:15165823-15165830 chr17:15166646-15166653 chr17:15166645-15166656 chr17:15165816-15165826 chr17:15166646-15166654 chr17:15166645-15166655 chr17:15165658-15165667 chr17:15166646-15166654 chr17:15165850-15165861 chr17:15166646-15166657
48	MAX	chr17:15165638-15166992	SK-N-SH	brain:	n/a	n/a
49	CTCF	chr17:15166560-15166710	HMF	breast:	n/a	n/a
50	POLR2A	chr17:15165420-15167037	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15166284..15168477-chr17:15174435..15176206,2	MCF-7	breast:
2	chr17:15166025..15168279-chr17:15170899..15173519,3	MCF-7	breast:

Variant related genes	Relation type
PMP22	TF binding region
ENSG00000230971	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs231015	0.89[EUR][1000 genomes]
rs231016	0.89[EUR][1000 genomes]
rs231018	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs231019	0.86[EUR][1000 genomes]
rs231020	0.83[EUR][1000 genomes]
rs231025	0.81[EUR][1000 genomes]
rs231028	0.81[EUR][1000 genomes]
rs231030	0.81[EUR][1000 genomes]
rs55568	0.89[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	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15162400-15167000	Active TSS	Psoas Muscle	Psoas
2	chr17:15163000-15166800	Active TSS	Right Ventricle	heart
3	chr17:15163000-15167000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr17:15163000-15167000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:15163000-15167000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr17:15163000-15167000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:15163200-15168400	Active TSS	Right Atrium	heart
8	chr17:15163400-15166800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr17:15163400-15167000	Active TSS	Ovary	ovary
10	chr17:15163400-15167000	Flanking Active TSS	HMEC	breast
11	chr17:15163400-15167200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr17:15163400-15168000	Active TSS	Left Ventricle	heart
13	chr17:15163600-15166800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr17:15163600-15166800	Active TSS	Fetal Heart	heart
15	chr17:15163600-15167000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr17:15163600-15167000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr17:15163600-15167000	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr17:15163600-15167000	Active TSS	Colon Smooth Muscle	Colon
19	chr17:15163600-15167200	Active TSS	Brain Anterior Caudate	brain
20	chr17:15163800-15166800	Active TSS	Brain Cingulate Gyrus	brain
21	chr17:15163800-15166800	Active TSS	Brain Hippocampus Middle	brain
22	chr17:15163800-15167200	Active TSS	Brain Substantia Nigra	brain
23	chr17:15164000-15167000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:15164000-15167000	Active TSS	Brain Angular Gyrus	brain
25	chr17:15164400-15167000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr17:15164400-15167000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr17:15164400-15167000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr17:15164400-15167000	Flanking Active TSS	NH-A	brain
29	chr17:15164800-15167000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:15164800-15167000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr17:15164800-15167200	Bivalent/Poised TSS	Fetal Kidney	kidney
32	chr17:15165000-15167000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
33	chr17:15165000-15167000	Active TSS	Rectal Smooth Muscle	rectum
34	chr17:15165200-15167000	Flanking Bivalent TSS/Enh	NHEK	skin
35	chr17:15165200-15167400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr17:15165400-15166800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:15165400-15166800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:15165400-15166800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr17:15165400-15166800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
40	chr17:15165400-15166800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr17:15165400-15167000	Flanking Active TSS	Pancreas	Pancrea
42	chr17:15165600-15166800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr17:15165600-15166800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:15165600-15166800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr17:15165600-15166800	Bivalent Enhancer	Liver	Liver
46	chr17:15165600-15167000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr17:15165600-15167000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr17:15165600-15167000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:15165800-15166800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:15165800-15166800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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