Variant report

Variant	rs231019
Chromosome Location	chr17:15164809-15164810
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	SIN3AK20	chr17:15163601-15164855	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr17:15163683-15166975	Hela-S3	cervix:	n/a	n/a
3	E2F6	chr17:15163688-15164937	A549	lung:	n/a	chr17:15164224-15164234
4	POLR2A	chr17:15163772-15164947	HUVEC	blood vessel:	n/a	n/a
5	MAX	chr17:15163706-15165224	SK-N-SH	brain:	n/a	chr17:15164861-15164870 chr17:15164860-15164870 chr17:15164862-15164869 chr17:15164860-15164871
6	POLR2A	chr17:15164517-15165021	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr17:15164680-15164830	HRE	kidney:	n/a	n/a
8	RAD21	chr17:15164535-15164837	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chr17:15163626-15167137	IMR90	lung:	n/a	n/a
10	RAD21	chr17:15163681-15167318	IMR90	lung:	n/a	chr17:15165861-15165873 chr17:15166929-15166941
11	TBP	chr17:15164532-15165274	Hela-S3	cervix:	n/a	n/a
12	HMGN3	chr17:15164649-15164963	K562	blood:	n/a	n/a
13	CTCF	chr17:15164660-15164810	HUVEC	blood vessel:	n/a	n/a
14	BCL3	chr17:15164294-15167367	A549	lung:	n/a	chr17:15166341-15166354 chr17:15165839-15165852 chr17:15165814-15165827 chr17:15165831-15165844 chr17:15165654-15165667
15	E2F6	chr17:15163817-15164940	K562	blood:	n/a	chr17:15164224-15164234
16	MAX	chr17:15163709-15165088	SK-N-SH	brain:	n/a	chr17:15164861-15164870 chr17:15164860-15164870 chr17:15164862-15164869 chr17:15164860-15164871
17	MAX	chr17:15164676-15165046	K562	blood:	n/a	chr17:15164861-15164870 chr17:15164860-15164870 chr17:15164862-15164869 chr17:15164860-15164871
18	SP1	chr17:15163670-15164963	A549	lung:	n/a	chr17:15164505-15164519
19	SMARCB1	chr17:15163769-15166895	Hela-S3	cervix:	n/a	n/a
20	MAX	chr17:15163671-15165459	Hela-S3	cervix:	n/a	chr17:15164861-15164870 chr17:15164860-15164870 chr17:15164862-15164869 chr17:15164860-15164871
21	MAX	chr17:15164514-15164985	K562	blood:	n/a	chr17:15164861-15164870 chr17:15164860-15164870 chr17:15164862-15164869 chr17:15164860-15164871
22	RAD21	chr17:15163434-15167583	SK-N-SH	brain:	n/a	chr17:15165861-15165873 chr17:15166929-15166941
23	CTCF	chr17:15163895-15164855	K562	blood:	n/a	chr17:15164224-15164237 chr17:15164251-15164264
24	POLR2A	chr17:15163708-15165110	HUVEC	blood vessel:	n/a	n/a
25	SIN3A	chr17:15163674-15165137	H1-hESC	embryonic stem cell:	n/a	chr17:15164283-15164294 chr17:15164182-15164191 chr17:15164175-15164188
26	RAD21	chr17:15163996-15164877	A549	lung:	n/a	n/a
27	NFIC	chr17:15163497-15167079	SK-N-SH	brain:	n/a	chr17:15166620-15166637 chr17:15166620-15166636 chr17:15166607-15166623
28	GTF2F1	chr17:15164577-15164986	Hela-S3	cervix:	n/a	n/a
29	MAX	chr17:15163703-15165055	HepG2	liver:	n/a	chr17:15164861-15164870 chr17:15164860-15164870 chr17:15164862-15164869 chr17:15164860-15164871
30	MAX	chr17:15163754-15165088	H1-hESC	embryonic stem cell:	n/a	chr17:15164861-15164870 chr17:15164860-15164870 chr17:15164862-15164869 chr17:15164860-15164871
31	RAD21	chr17:15163691-15164841	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr17:15164769-15164882	ProgFib	skin:	n/a	n/a
33	NRF1	chr17:15163391-15165098	SK-N-SH	brain:	n/a	n/a
34	RAD21	chr17:15163770-15164995	A549	lung:	n/a	n/a
35	CTCF	chr17:15164660-15164810	HCM	heart:	n/a	n/a
36	MAZ	chr17:15163849-15165277	Hela-S3	cervix:	n/a	chr17:15164861-15164870 chr17:15164860-15164870 chr17:15164862-15164869 chr17:15164860-15164871
37	POLR2A	chr17:15164740-15164972	A549	lung:	n/a	n/a
38	RAD21	chr17:15163843-15164844	A549	lung:	n/a	n/a
39	POLR2A	chr17:15164427-15165348	HUVEC	blood vessel:	n/a	n/a
40	RAD21	chr17:15163968-15164914	SK-N-SH_RA	brain:	n/a	n/a
41	GATA3	chr17:15163622-15165135	A549	lung:	n/a	n/a
42	MAX	chr17:15163622-15165183	A549	lung:	n/a	chr17:15164861-15164870 chr17:15164860-15164870 chr17:15164862-15164869 chr17:15164860-15164871
43	SMARCC1	chr17:15163896-15166945	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr17:15164660-15164810	HMF	breast:	n/a	n/a
45	CTCF	chr17:15163357-15167631	A549	lung:	n/a	chr17:15166140-15166147 chr17:15164224-15164237 chr17:15164251-15164264
46	MAZ	chr17:15163312-15167057	IMR90	lung:	n/a	chr17:15164861-15164870 chr17:15164860-15164870 chr17:15164862-15164869 chr17:15164860-15164871
47	CTBP2	chr17:15163758-15164935	H1-hESC	embryonic stem cell:	n/a	n/a
48	NRF1	chr17:15164669-15164865	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr17:15163389-15166899	PBDE	blood:	n/a	n/a
50	CTCF	chr17:15164660-15164810	BJ	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15164809-15164859	HNPCEpiC	eye:	n/a
2	chr17:15164809-15164859	HMEC	breast:	n/a
3	chr17:15164809-15164859	HCT-116	colon:	n/a
4	chr17:15164809-15164859	SK-N-SH_RA	brain:	n/a
5	chr17:15164809-15164859	U87	brain:	n/a
6	chr17:15164809-15164859	HRCEpiC	kidney:	n/a
7	chr17:15164809-15164859	T-47D	breast:	n/a
8	chr17:15164809-15164859	ECC-1	luminal epithelium:	n/a
9	chr17:15164809-15164859	NT2-D1	testis:	n/a
10	chr17:15164809-15164859	GM12878	blood:	n/a
11	chr17:15164809-15164859	RPTEC	kidney:	n/a
12	chr17:15164809-15164859	AG09319	gingival:	n/a
13	chr17:15164809-15164859	MCF-7	breast:	n/a
14	chr17:15164809-15164859	Hela-S3	cervix:	n/a
15	chr17:15164809-15164859	Hepatocyte	liver:	n/a
16	chr17:15164809-15164859	PrEC	prostate:	n/a
17	chr17:15164809-15164859	SK-N-SH	brain:	n/a
18	chr17:15164809-15164859	CMK	blood:	n/a
19	chr17:15164809-15164859	IMR90	lung:	fetal
20	chr17:15164809-15164859	MCF10A-Er-Src	breast:	n/a
21	chr17:15164809-15164859	ProgFib	skin:	n/a
22	chr17:15164809-15164859	GM12891	blood:	n/a
23	chr17:15164809-15164859	HUVEC	blood vessel:	n/a
24	chr17:15164809-15164859	AG09309	skin:	n/a
25	chr17:15164809-15164859	K562	blood:	n/a
26	chr17:15164809-15164859	SKMC	muscle:	n/a
27	chr17:15164809-15164859	AG04449	skin:	fetal
28	chr17:15164809-15164859	Caco-2	colon:	n/a
29	chr17:15164809-15164859	H1-hESC	embryonic stem cell:	embryo
30	chr17:15164809-15164859	ovcar-3	ovarian:	n/a
31	chr17:15164809-15164859	NHBE	bronchial:	n/a
32	chr17:15164809-15164859	LNCaP	prostate:	n/a
33	chr17:15164809-15164859	HepG2	liver:	n/a
34	chr17:15164809-15164859	HRE	kidney:	n/a
35	chr17:15164809-15164859	NB4	blood:	n/a
36	chr17:15164809-15164859	NH-A	brain:	n/a
37	chr17:15164809-15164859	HIPEpiC	eye:	n/a
38	chr17:15164809-15164859	HRPEpiC	eye:	n/a
39	chr17:15164809-15164859	PANC-1	pancreas:	n/a
40	chr17:15164809-15164859	HPAEpiC	pulmonary alveolar:	n/a
41	chr17:15164809-15164859	SAEC	small airway:	n/a
42	chr17:15164809-15164859	HEK293	kidney:	embryo
43	chr17:15164809-15164859	A549	lung:	n/a
44	chr17:15164809-15164859	SK-N-MC	brain:	n/a
45	chr17:15164809-15164859	AG04450	lung:	fetal
46	chr17:15164809-15164859	BE2_C	brain:	n/a
47	chr17:15164809-15164859	Jurkat	blood:	n/a
48	chr17:15164809-15164859	GM12892	blood:	n/a
49	chr17:15164809-15164859	HCPEpiC	choroid plexus:	n/a
50	chr17:15164809-15164859	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:99190445..99191203-chr17:15164323..15164974,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF286A-4	chr17:15163830-15165158	NONHSAT145796

Variant related genes	Relation type
PMP22	TF binding region
PMP22	CpG island
ENSG00000259424	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs230911	0.86[ASN][1000 genomes]
rs231014	0.93[ASN][1000 genomes]
rs231015	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs231016	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs231017	0.86[EUR][1000 genomes]
rs231018	0.81[EUR][1000 genomes]
rs231022	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs231024	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][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:115 , 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	chr17:15163400-15165000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr17:15163400-15165000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr17:15163400-15165200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
15	chr17:15163400-15166600	Active TSS	Lung	lung
16	chr17:15163400-15166800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr17:15163400-15167000	Active TSS	Ovary	ovary
18	chr17:15163400-15167000	Flanking Active TSS	HMEC	breast
19	chr17:15163400-15167200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr17:15163400-15168000	Active TSS	Left Ventricle	heart
21	chr17:15163600-15165000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:15163600-15165000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:15163600-15165000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
24	chr17:15163600-15165200	Active TSS	HSMM	muscle
25	chr17:15163600-15165400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr17:15163600-15165600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr17:15163600-15166400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:15163600-15166400	Bivalent/Poised TSS	Fetal Thymus	thymus
29	chr17:15163600-15166600	Active TSS	Aorta	Aorta
30	chr17:15163600-15166600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
31	chr17:15163600-15166800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr17:15163600-15166800	Active TSS	Fetal Heart	heart
33	chr17:15163600-15167000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr17:15163600-15167000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr17:15163600-15167000	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr17:15163600-15167000	Active TSS	Colon Smooth Muscle	Colon
37	chr17:15163600-15167200	Active TSS	Brain Anterior Caudate	brain
38	chr17:15163800-15165000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr17:15163800-15165000	Flanking Active TSS	Pancreas	Pancrea
40	chr17:15163800-15165000	Active TSS	Hela-S3	cervix
41	chr17:15163800-15165400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:15163800-15166200	Active TSS	Muscle Satellite Cultured Cells	--
43	chr17:15163800-15166600	Bivalent/Poised TSS	Fetal Stomach	stomach
44	chr17:15163800-15166800	Active TSS	Brain Cingulate Gyrus	brain
45	chr17:15163800-15166800	Active TSS	Brain Hippocampus Middle	brain
46	chr17:15163800-15167200	Active TSS	Brain Substantia Nigra	brain
47	chr17:15164000-15165000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr17:15164000-15165200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr17:15164000-15165400	Active TSS	Small Intestine	intestine
50	chr17:15164000-15166000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links