Variant report

Variant	rs2075659
Chromosome Location	chr17:18044592-18044593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr17:18044415-18044974	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF143	chr17:18044550-18044925	GM12878	blood:	n/a	n/a
3	CTCF	chr17:18044468-18044997	MCF-7	breast:	n/a	n/a
4	CTCF	chr17:18044500-18044650	GM12864	blood:	n/a	n/a
5	CTCF	chr17:18044580-18044730	HA-sp	spinal cord:	n/a	n/a
6	CTCF	chr17:18044580-18044845	HepG2	liver:	n/a	n/a
7	RAD21	chr17:18044441-18044954	A549	lung:	n/a	chr17:18044886-18044896
8	RAD21	chr17:18044520-18044934	SK-N-SH_RA	brain:	n/a	chr17:18044886-18044896
9	RAD21	chr17:18044480-18045115	HCT-116	colon:	n/a	chr17:18044886-18044896
10	CTCF	chr17:18044478-18044837	LNCaP	prostate:	n/a	n/a
11	CTCF	chr17:18044569-18044852	Pancreas_OC	pancreas:	n/a	n/a
12	RAD21	chr17:18044540-18044996	H1-hESC	embryonic stem cell:	n/a	chr17:18044886-18044896
13	RAD21	chr17:18044375-18045081	HCT-116	colon:	n/a	chr17:18044886-18044896
14	CTCF	chr17:18044545-18044865	Spleen_OC	spleen:	n/a	n/a
15	POLR2A	chr17:18044496-18044915	MCF10A-Er-Src	breast:	n/a	n/a
16	SMC3	chr17:18044444-18044910	HepG2	liver:	n/a	n/a
17	RAD21	chr17:18044472-18044996	ECC-1	luminal epithelium:	n/a	chr17:18044886-18044896
18	GTF2F1	chr17:18044449-18044730	K562	blood:	n/a	n/a
19	CTCF	chr17:18044310-18045055	HCT-116	colon:	n/a	n/a
20	RCOR1	chr17:18044550-18044895	K562	blood:	n/a	n/a
21	ZNF143	chr17:18044563-18044916	K562	blood:	n/a	n/a
22	RAD21	chr17:18044396-18045030	IMR90	lung:	n/a	chr17:18044886-18044896
23	CTCF	chr17:18044550-18044845	K562	blood:	n/a	n/a
24	CTCF	chr17:18044446-18044958	A549	lung:	n/a	n/a
25	USF2	chr17:18044496-18044793	Hela-S3	cervix:	n/a	n/a
26	RAD21	chr17:18044449-18044953	GM12878	blood:	n/a	chr17:18044886-18044896
27	CTCF	chr17:18044580-18044730	HMEC	breast:	n/a	n/a
28	CTCF	chr17:18044560-18044710	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr17:18044580-18044730	AG04450	lung:	n/a	n/a
30	CTCF	chr17:18044492-18044864	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr17:18044282-18044941	IMR90	lung:	n/a	n/a
32	EP300	chr17:18044194-18044846	K562	blood:	n/a	n/a
33	CTCF	chr17:18044498-18044871	HepG2	liver:	n/a	n/a
34	RFX5	chr17:18044506-18044795	K562	blood:	n/a	n/a
35	SMC3	chr17:18044507-18044941	K562	blood:	n/a	n/a
36	RCOR1	chr17:18044413-18044613	K562	blood:	n/a	n/a
37	CTCF	chr17:18044529-18044911	A549	lung:	n/a	n/a
38	FOS	chr17:18044565-18044914	MCF10A-Er-Src	breast:	n/a	n/a
39	RAD21	chr17:18044497-18045024	A549	lung:	n/a	chr17:18044886-18044896
40	RAD21	chr17:18044458-18045031	ECC-1	luminal epithelium:	n/a	chr17:18044886-18044896
41	CTCF	chr17:18044334-18044597	GM19240	blood:	n/a	n/a
42	RAD21	chr17:18044495-18044921	HepG2	liver:	n/a	chr17:18044886-18044896
43	CTCF	chr17:18043985-18045480	A549	lung:	n/a	chr17:18045281-18045294
44	MYC	chr17:18044511-18044915	MCF10A-Er-Src	breast:	n/a	n/a
45	MAZ	chr17:18044541-18044959	K562	blood:	n/a	n/a
46	CTCF	chr17:18044480-18044630	HCM	heart:	n/a	n/a
47	CTCF	chr17:18044583-18044851	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr17:18044533-18044876	GM12878	blood:	n/a	n/a
49	RAD21	chr17:18044562-18044948	HepG2	liver:	n/a	chr17:18044886-18044896
50	CTCF	chr17:18044329-18044931	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18044305..18045021-chr17:18059355..18060391,3	MCF-7	breast:
2	chr17:18044115..18044841-chr17:18120469..18121362,2	K562	blood:
3	chr17:18044182..18045939-chr17:18050102..18052001,2	MCF-7	breast:
4	chr17:18042232..18044800-chr17:18055136..18057841,3	K562	blood:
5	chr17:18042805..18044736-chr17:18086569..18089339,2	K562	blood:
6	chr17:18039043..18041825-chr17:18043264..18046470,4	K562	blood:
7	chr17:18042115..18044970-chr17:18226720..18228381,2	MCF-7	breast:
8	chr17:18039531..18041825-chr17:18044151..18046470,2	K562	blood:
9	chr17:18044150..18045078-chr17:18059256..18060265,3	MCF-7	breast:
10	chr17:18044317..18045124-chr17:18086070..18086665,2	MCF-7	breast:

No data

Variant related genes	Relation type
MYO15A	TF binding region
ENSG00000091542	Chromatin interaction
ENSG00000091536	Chromatin interaction
ENSG00000267350	Chromatin interaction
ENSG00000266677	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1064629	0.83[EUR][1000 genomes]
rs12449609	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12450483	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2056841	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2072652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2072653	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2242595	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2272571	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4925145	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4925147	0.83[EUR][1000 genomes]
rs57186648	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58804619	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59179192	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72827432	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8068517	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv907769	chr17:18000321-18064195	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv457697	chr17:18003845-18046290	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv574527	chr17:18003845-18046290	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv907771	chr17:18013560-18098018	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv470580	chr17:18029857-18060192	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
13	nsv907772	chr17:18030524-18098018	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv510702	chr17:18037676-18116801	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18039600-18046800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr17:18039800-18046200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:18040200-18044800	Enhancers	Liver	Liver
4	chr17:18040600-18056000	Weak transcription	Gastric	stomach
5	chr17:18040800-18056400	Weak transcription	Right Atrium	heart
6	chr17:18041600-18045000	Enhancers	Placenta	Placenta
7	chr17:18041800-18044600	Enhancers	HepG2	liver
8	chr17:18041800-18044800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr17:18042800-18044600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr17:18043000-18045000	Enhancers	Fetal Muscle Trunk	muscle
11	chr17:18043200-18044600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr17:18043400-18045200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:18043400-18046200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr17:18043600-18046800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:18044000-18044600	Enhancers	Fetal Thymus	thymus
16	chr17:18044000-18045000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:18044000-18046000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:18044200-18044600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr17:18044200-18044600	Enhancers	Brain Anterior Caudate	brain
20	chr17:18044200-18044600	Enhancers	Esophagus	oesophagus
21	chr17:18044200-18044600	Enhancers	Pancreas	Pancrea
22	chr17:18044200-18044600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr17:18044200-18045000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr17:18044200-18045400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr17:18044400-18044600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:18044400-18044600	Bivalent Enhancer	GM12878-XiMat	blood
27	chr17:18044400-18044800	Enhancers	Primary B cells from peripheral blood	blood
28	chr17:18044400-18044800	Enhancers	Brain Hippocampus Middle	brain
29	chr17:18044400-18044800	Enhancers	Fetal Kidney	kidney
30	chr17:18044400-18045000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr17:18044400-18045000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr17:18044400-18045000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr17:18044400-18045000	Enhancers	Brain Angular Gyrus	brain
34	chr17:18044400-18045000	Enhancers	Colon Smooth Muscle	Colon
35	chr17:18044400-18045000	Enhancers	Fetal Intestine Small	intestine
36	chr17:18044400-18045000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
37	chr17:18044400-18045000	Enhancers	K562	blood
38	chr17:18044400-18045200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:18044400-18045200	Enhancers	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links