Variant report

Variant	rs73977983
Chromosome Location	chr17:15166375-15166376
allele	G/T
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	MAFK	chr17:15165680-15166464	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr17:15163683-15166975	Hela-S3	cervix:	n/a	n/a
3	PBX3	chr17:15165648-15166981	SK-N-SH	brain:	n/a	n/a
4	FOSL2	chr17:15165603-15167148	A549	lung:	n/a	chr17:15166695-15166704 chr17:15166649-15166658
5	POLR2A	chr17:15163626-15167137	IMR90	lung:	n/a	n/a
6	RAD21	chr17:15163681-15167318	IMR90	lung:	n/a	chr17:15165861-15165873 chr17:15166929-15166941
7	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
8	BCL3	chr17:15164294-15167367	A549	lung:	n/a	chr17:15166341-15166354 chr17:15165839-15165852 chr17:15165814-15165827 chr17:15165831-15165844 chr17:15165654-15165667
9	CTCF	chr17:15166360-15166510	SK-N-SH_RA	brain:	n/a	n/a
10	FOXA2	chr17:15165575-15166459	A549	lung:	n/a	n/a
11	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
12	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
13	TAF1	chr17:15165530-15166799	A549	lung:	n/a	n/a
14	POLR2A	chr17:15165604-15166441	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr17:15165627-15166787	SK-N-SH	brain:	n/a	n/a
16	SMARCB1	chr17:15163769-15166895	Hela-S3	cervix:	n/a	n/a
17	CREB1	chr17:15165492-15166447	A549	lung:	n/a	n/a
18	TBP	chr17:15165835-15166872	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr17:15163434-15167583	SK-N-SH	brain:	n/a	chr17:15165861-15165873 chr17:15166929-15166941
20	POLR2A	chr17:15165640-15166408	HUVEC	blood vessel:	n/a	n/a
21	HMGN3	chr17:15165773-15166449	K562	blood:	n/a	n/a
22	NFIC	chr17:15163497-15167079	SK-N-SH	brain:	n/a	chr17:15166620-15166637 chr17:15166620-15166636 chr17:15166607-15166623
23	JUND	chr17:15165667-15166891	A549	lung:	n/a	chr17:15166695-15166704 chr17:15166649-15166658
24	POLR2A	chr17:15165256-15167006	U87	brain:	n/a	n/a
25	RAD21	chr17:15165608-15166949	H1-hESC	embryonic stem cell:	n/a	chr17:15165861-15165873 chr17:15166929-15166941
26	TCF7L2	chr17:15165756-15166935	HCT-116	colon:	n/a	n/a
27	POLR2A	chr17:15165563-15166668	HCT-116	colon:	n/a	n/a
28	POLR2A	chr17:15165399-15167043	U87	brain:	n/a	n/a
29	SP1	chr17:15165159-15167451	A549	lung:	n/a	chr17:15165200-15165213 chr17:15165368-15165382
30	CTCF	chr17:15166280-15166430	HepG2	liver:	n/a	n/a
31	POLR2A	chr17:15165540-15166949	A549	lung:	n/a	n/a
32	POLR2A	chr17:15165497-15166997	HUVEC	blood vessel:	n/a	n/a
33	SMARCC1	chr17:15163896-15166945	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr17:15163357-15167631	A549	lung:	n/a	chr17:15166140-15166147 chr17:15164224-15164237 chr17:15164251-15164264
35	MAZ	chr17:15163312-15167057	IMR90	lung:	n/a	chr17:15164861-15164870 chr17:15164860-15164870 chr17:15164862-15164869 chr17:15164860-15164871
36	MAX	chr17:15165669-15166385	Hela-S3	cervix:	n/a	n/a
37	CTBP2	chr17:15165427-15166784	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr17:15163389-15166899	PBDE	blood:	n/a	n/a
39	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
40	MAX	chr17:15165638-15166992	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr17:15165420-15167037	U87	brain:	n/a	n/a
42	MAX	chr17:15165328-15167013	SK-N-SH	brain:	n/a	n/a
43	MAX	chr17:15163483-15167382	A549	lung:	n/a	chr17:15164861-15164870 chr17:15164860-15164870 chr17:15164862-15164869 chr17:15164860-15164871
44	GATA3	chr17:15165510-15167308	A549	lung:	n/a	chr17:15167100-15167107 chr17:15166606-15166614 chr17:15167093-15167109
45	CTCF	chr17:15163586-15167452	SK-N-SH	brain:	n/a	chr17:15166140-15166147 chr17:15164224-15164237 chr17:15164251-15164264
46	SP1	chr17:15165468-15167057	A549	lung:	n/a	n/a
47	POLR2A	chr17:15165601-15166941	A549	lung:	n/a	n/a
48	TCF12	chr17:15163428-15167498	A549	lung:	n/a	chr17:15164244-15164254
49	SMC3	chr17:15165421-15166499	Hela-S3	cervix:	n/a	chr17:15166295-15166305
50	E2F6	chr17:15165628-15166544	K562	blood:	n/a	chr17:15166247-15166256 chr17:15165823-15165830 chr17:15165816-15165826 chr17:15165658-15165667 chr17:15165850-15165861

No.	Distal block	Cell Line	Cell type
1	chr1:113161699..113162339-chr17:15165478..15166477,2	Hela-S3	cervix:
2	chr17:15166284..15168477-chr17:15174435..15176206,2	MCF-7	breast:
3	chr17:15166025..15168279-chr17:15170899..15173519,3	MCF-7	breast:
4	chr1:38273537..38274124-chr17:15165768..15166526,2	Hela-S3	cervix:
5	chr1:149223546..149224544-chr17:15165760..15166620,2	Hela-S3	cervix:

Variant related genes	Relation type
PMP22	TF binding region
ENSG00000116489	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000197982	Chromatin interaction
ENSG00000196449	Chromatin interaction
ENSG00000230971	Chromatin interaction
ENSG00000007341	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10468477	1.00[EUR][1000 genomes]
rs16951111	1.00[EUR][1000 genomes]
rs16951173	1.00[EUR][1000 genomes]
rs16951182	1.00[EUR][1000 genomes]
rs16951185	1.00[EUR][1000 genomes]
rs16951193	1.00[EUR][1000 genomes]
rs16951242	1.00[EUR][1000 genomes]
rs16951244	1.00[EUR][1000 genomes]
rs4791616	1.00[EUR][1000 genomes]
rs4792583	1.00[EUR][1000 genomes]
rs55759623	1.00[AMR][1000 genomes]
rs56041344	1.00[EUR][1000 genomes]
rs56396768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57135592	1.00[EUR][1000 genomes]
rs58767140	1.00[AMR][1000 genomes]
rs60259810	1.00[EUR][1000 genomes]
rs60339737	1.00[EUR][1000 genomes]
rs60442420	1.00[EUR][1000 genomes]
rs7225695	1.00[EUR][1000 genomes]
rs73977985	1.00[EUR][1000 genomes]
rs73977987	1.00[EUR][1000 genomes]
rs73977991	1.00[EUR][1000 genomes]
rs73977993	1.00[EUR][1000 genomes]
rs73977994	1.00[EUR][1000 genomes]
rs73977997	1.00[EUR][1000 genomes]
rs73977998	1.00[EUR][1000 genomes]
rs8065077	1.00[EUR][1000 genomes]
rs8065452	1.00[EUR][1000 genomes]
rs8071793	1.00[EUR][1000 genomes]
rs8076198	1.00[EUR][1000 genomes]
rs9912273	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	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:108 , 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	chr17:15163000-15166400	Active TSS	NHDF-Ad	bronchial
3	chr17:15163000-15166800	Active TSS	Right Ventricle	heart
4	chr17:15163000-15167000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr17:15163000-15167000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:15163000-15167000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr17:15163000-15167000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:15163200-15168400	Active TSS	Right Atrium	heart
9	chr17:15163400-15166600	Active TSS	Lung	lung
10	chr17:15163400-15166800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr17:15163400-15167000	Active TSS	Ovary	ovary
12	chr17:15163400-15167000	Flanking Active TSS	HMEC	breast
13	chr17:15163400-15167200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr17:15163400-15168000	Active TSS	Left Ventricle	heart
15	chr17:15163600-15166400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:15163600-15166400	Bivalent/Poised TSS	Fetal Thymus	thymus
17	chr17:15163600-15166600	Active TSS	Aorta	Aorta
18	chr17:15163600-15166600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
19	chr17:15163600-15166800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr17:15163600-15166800	Active TSS	Fetal Heart	heart
21	chr17:15163600-15167000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr17:15163600-15167000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr17:15163600-15167000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr17:15163600-15167000	Active TSS	Colon Smooth Muscle	Colon
25	chr17:15163600-15167200	Active TSS	Brain Anterior Caudate	brain
26	chr17:15163800-15166600	Bivalent/Poised TSS	Fetal Stomach	stomach
27	chr17:15163800-15166800	Active TSS	Brain Cingulate Gyrus	brain
28	chr17:15163800-15166800	Active TSS	Brain Hippocampus Middle	brain
29	chr17:15163800-15167200	Active TSS	Brain Substantia Nigra	brain
30	chr17:15164000-15166400	Active TSS	A549	lung
31	chr17:15164000-15167000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:15164000-15167000	Active TSS	Brain Angular Gyrus	brain
33	chr17:15164400-15166400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr17:15164400-15166600	Bivalent/Poised TSS	Thymus	Thymus
35	chr17:15164400-15167000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr17:15164400-15167000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr17:15164400-15167000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr17:15164400-15167000	Flanking Active TSS	NH-A	brain
39	chr17:15164600-15166400	Bivalent/Poised TSS	Fetal Lung	lung
40	chr17:15164800-15167000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:15164800-15167000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr17:15164800-15167200	Bivalent/Poised TSS	Fetal Kidney	kidney
43	chr17:15165000-15167000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
44	chr17:15165000-15167000	Active TSS	Rectal Smooth Muscle	rectum
45	chr17:15165200-15166400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr17:15165200-15167000	Flanking Bivalent TSS/Enh	NHEK	skin
47	chr17:15165200-15167400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr17:15165400-15166400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr17:15165400-15166400	Flanking Bivalent TSS/Enh	Placenta	Placenta
50	chr17:15165400-15166800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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