Variant report

Variant	rs231018
Chromosome Location	chr17:15165581-15165582
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	ATF3	chr17:15165540-15166273	A549	lung:	n/a	n/a
2	POLR2A	chr17:15163683-15166975	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr17:15163626-15167137	IMR90	lung:	n/a	n/a
4	RAD21	chr17:15163681-15167318	IMR90	lung:	n/a	chr17:15165861-15165873 chr17:15166929-15166941
5	PBX3	chr17:15165556-15166303	A549	lung:	n/a	n/a
6	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
7	BCL3	chr17:15164294-15167367	A549	lung:	n/a	chr17:15166341-15166354 chr17:15165839-15165852 chr17:15165814-15165827 chr17:15165831-15165844 chr17:15165654-15165667
8	FOXA2	chr17:15165575-15166459	A549	lung:	n/a	n/a
9	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
10	TAF1	chr17:15165530-15166799	A549	lung:	n/a	n/a
11	SMARCB1	chr17:15163769-15166895	Hela-S3	cervix:	n/a	n/a
12	CREB1	chr17:15165492-15166447	A549	lung:	n/a	n/a
13	RAD21	chr17:15163434-15167583	SK-N-SH	brain:	n/a	chr17:15165861-15165873 chr17:15166929-15166941
14	NFIC	chr17:15163497-15167079	SK-N-SH	brain:	n/a	chr17:15166620-15166637 chr17:15166620-15166636 chr17:15166607-15166623
15	RCOR1	chr17:15165528-15166068	K562	blood:	n/a	n/a
16	POLR2A	chr17:15165256-15167006	U87	brain:	n/a	n/a
17	RAD21	chr17:15165525-15166176	A549	lung:	n/a	chr17:15165861-15165873
18	EP300	chr17:15165536-15166275	A549	lung:	n/a	chr17:15166247-15166256 chr17:15165832-15165848 chr17:15166249-15166265
19	POLR2A	chr17:15165563-15166668	HCT-116	colon:	n/a	n/a
20	POLR2A	chr17:15165399-15167043	U87	brain:	n/a	n/a
21	SP1	chr17:15165159-15167451	A549	lung:	n/a	chr17:15165200-15165213 chr17:15165368-15165382
22	POLR2A	chr17:15165327-15166268	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr17:15165540-15166949	A549	lung:	n/a	n/a
24	POLR2A	chr17:15165497-15166997	HUVEC	blood vessel:	n/a	n/a
25	SMARCC1	chr17:15163896-15166945	Hela-S3	cervix:	n/a	n/a
26	SUZ12	chr17:15165335-15166288	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr17:15163357-15167631	A549	lung:	n/a	chr17:15166140-15166147 chr17:15164224-15164237 chr17:15164251-15164264
28	MAZ	chr17:15163312-15167057	IMR90	lung:	n/a	chr17:15164861-15164870 chr17:15164860-15164870 chr17:15164862-15164869 chr17:15164860-15164871
29	CTBP2	chr17:15165427-15166784	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr17:15163389-15166899	PBDE	blood:	n/a	n/a
31	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
32	POLR2A	chr17:15165420-15167037	U87	brain:	n/a	n/a
33	MAX	chr17:15165328-15167013	SK-N-SH	brain:	n/a	n/a
34	MAX	chr17:15163483-15167382	A549	lung:	n/a	chr17:15164861-15164870 chr17:15164860-15164870 chr17:15164862-15164869 chr17:15164860-15164871
35	GATA3	chr17:15165510-15167308	A549	lung:	n/a	chr17:15167100-15167107 chr17:15166606-15166614 chr17:15167093-15167109
36	POLR2A	chr17:15165439-15166295	K562	blood:	n/a	n/a
37	CTCF	chr17:15165500-15165650	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr17:15163586-15167452	SK-N-SH	brain:	n/a	chr17:15166140-15166147 chr17:15164224-15164237 chr17:15164251-15164264
39	ETS1	chr17:15165532-15166194	A549	lung:	n/a	n/a
40	NR3C1	chr17:15165545-15166193	A549	lung:	n/a	n/a
41	SP1	chr17:15165468-15167057	A549	lung:	n/a	n/a
42	TCF12	chr17:15163428-15167498	A549	lung:	n/a	chr17:15164244-15164254
43	SMC3	chr17:15165421-15166499	Hela-S3	cervix:	n/a	chr17:15166295-15166305
44	NRF1	chr17:15165504-15165922	H1-hESC	embryonic stem cell:	n/a	chr17:15165843-15165857 chr17:15165657-15165668 chr17:15165845-15165856 chr17:15165657-15165671 chr17:15165654-15165668
45	MAX	chr17:15165193-15167149	A549	lung:	n/a	n/a
46	REST	chr17:15165012-15167082	A549	lung:	n/a	chr17:15167003-15167011 chr17:15165636-15165646 chr17:15165831-15165844
47	ZNF143	chr17:15165429-15165591	H1-hESC	embryonic stem cell:	n/a	n/a
48	SMC3	chr17:15163313-15167426	SK-N-SH	brain:	n/a	chr17:15164224-15164234 chr17:15166295-15166305
49	CEBPB	chr17:15165524-15166378	A549	lung:	n/a	n/a
50	SIN3A	chr17:15165489-15167066	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:113161699..113162339-chr17:15165478..15166477,2	Hela-S3	cervix:
2	chr17:15165514..15166095-chr20:43882774..43883276,2	Hela-S3	cervix:
3	chr17:15165419..15166164-chr19:14628654..14629294,2	Hela-S3	cervix:
4	chr17:15165016..15165581-chr17:15405777..15406684,2	MCF-7	breast:

Variant related genes	Relation type
PMP22	TF binding region
ENSG00000116489	Chromatin interaction
ENSG00000132002	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000124107	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs231015	0.85[CEU][hapmap]
rs231017	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs231019	0.81[EUR][1000 genomes]
rs231020	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs231023	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs231025	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs231027	0.89[EUR][1000 genomes]
rs231028	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs231029	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs231030	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs55568	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66507245	0.88[EUR][1000 genomes]
rs7224992	0.83[JPT][hapmap]
rs973761	0.90[JPT][hapmap]

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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15160200-15165800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr17:15162400-15167000	Active TSS	Psoas Muscle	Psoas
3	chr17:15163000-15166000	Active TSS	NHLF	lung
4	chr17:15163000-15166400	Active TSS	NHDF-Ad	bronchial
5	chr17:15163000-15166800	Active TSS	Right Ventricle	heart
6	chr17:15163000-15167000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:15163000-15167000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:15163000-15167000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr17:15163000-15167000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:15163200-15166200	Active TSS	HSMMtube	muscle
11	chr17:15163200-15168400	Active TSS	Right Atrium	heart
12	chr17:15163400-15166600	Active TSS	Lung	lung
13	chr17:15163400-15166800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr17:15163400-15167000	Active TSS	Ovary	ovary
15	chr17:15163400-15167000	Flanking Active TSS	HMEC	breast
16	chr17:15163400-15167200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr17:15163400-15168000	Active TSS	Left Ventricle	heart
18	chr17:15163600-15165600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:15163600-15166400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:15163600-15166400	Bivalent/Poised TSS	Fetal Thymus	thymus
21	chr17:15163600-15166600	Active TSS	Aorta	Aorta
22	chr17:15163600-15166600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
23	chr17:15163600-15166800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr17:15163600-15166800	Active TSS	Fetal Heart	heart
25	chr17:15163600-15167000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr17:15163600-15167000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr17:15163600-15167000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr17:15163600-15167000	Active TSS	Colon Smooth Muscle	Colon
29	chr17:15163600-15167200	Active TSS	Brain Anterior Caudate	brain
30	chr17:15163800-15166200	Active TSS	Muscle Satellite Cultured Cells	--
31	chr17:15163800-15166600	Bivalent/Poised TSS	Fetal Stomach	stomach
32	chr17:15163800-15166800	Active TSS	Brain Cingulate Gyrus	brain
33	chr17:15163800-15166800	Active TSS	Brain Hippocampus Middle	brain
34	chr17:15163800-15167200	Active TSS	Brain Substantia Nigra	brain
35	chr17:15164000-15166000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:15164000-15166000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:15164000-15166000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
38	chr17:15164000-15166400	Active TSS	A549	lung
39	chr17:15164000-15167000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr17:15164000-15167000	Active TSS	Brain Angular Gyrus	brain
41	chr17:15164200-15165600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr17:15164200-15165800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
43	chr17:15164200-15166200	Flanking Bivalent TSS/Enh	HepG2	liver
44	chr17:15164400-15165800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
45	chr17:15164400-15165800	Flanking Active TSS	K562	blood
46	chr17:15164400-15166400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr17:15164400-15166600	Bivalent/Poised TSS	Thymus	Thymus
48	chr17:15164400-15167000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr17:15164400-15167000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:15164400-15167000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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