Variant report

Variant	rs1057205
Chromosome Location	chr17:46713928-46713929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:191)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:191 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr17:46713876-46714296	K562	blood:	n/a	chr17:46714124-46714132
2	ZBTB7A	chr17:46713909-46714070	HepG2	liver:	n/a	n/a
3	EP300	chr17:46713819-46714071	HepG2	liver:	n/a	n/a
4	MAX	chr17:46713867-46714154	K562	blood:	n/a	n/a
5	CTCF	chr17:46713812-46714303	K562	blood:	n/a	n/a
6	HMGN3	chr17:46713924-46714271	K562	blood:	n/a	n/a
7	RAD21	chr17:46713867-46714165	SK-N-SH_RA	brain:	n/a	n/a
8	SP4	chr17:46713879-46714226	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr17:46713746-46714278	A549	lung:	n/a	n/a
10	CTCF	chr17:46713884-46714103	Lung_OC	lung:	n/a	n/a
11	USF1	chr17:46713618-46714187	A549	lung:	n/a	n/a
12	YY1	chr17:46713843-46714275	A549	lung:	n/a	n/a
13	POLR2A	chr17:46713851-46714196	K562	blood:	n/a	n/a
14	CTCF	chr17:46713780-46713930	HCM	heart:	n/a	n/a
15	BCL3	chr17:46713446-46714486	A549	lung:	n/a	n/a
16	CTCF	chr17:46713780-46713930	HCT-116	colon:	n/a	n/a
17	CTCF	chr17:46713920-46714070	GM12870	blood:	n/a	n/a
18	ATF3	chr17:46713793-46714205	A549	lung:	n/a	n/a
19	CTCF	chr17:46713920-46714070	GM12866	blood:	n/a	n/a
20	CTCF	chr17:46713880-46714030	HL-60	blood:	n/a	n/a
21	NR2F2	chr17:46713448-46714148	K562	blood:	n/a	n/a
22	MAX	chr17:46713714-46714506	A549	lung:	n/a	n/a
23	YY1	chr17:46713820-46714326	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr17:46713920-46714070	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr17:46713863-46714274	MCF-7	breast:	n/a	n/a
26	ZNF143	chr17:46713815-46714235	H1-hESC	embryonic stem cell:	n/a	n/a
27	SP1	chr17:46713756-46714229	H1-hESC	embryonic stem cell:	n/a	chr17:46714209-46714223
28	CTCF	chr17:46713855-46714311	GM12892	blood:	n/a	n/a
29	CTCF	chr17:46713893-46714224	ProgFib	skin:	n/a	n/a
30	SMC3	chr17:46713829-46714107	GM12878	blood:	n/a	n/a
31	CTCF	chr17:46713856-46714125	GM13976	blood:	n/a	n/a
32	BCL3	chr17:46713877-46714621	A549	lung:	n/a	n/a
33	CTCF	chr17:46713900-46714050	GM12868	blood:	n/a	n/a
34	TCF12	chr17:46713926-46714120	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr17:46713864-46714191	A549	lung:	n/a	n/a
36	HDAC2	chr17:46713740-46714349	MCF-7	breast:	n/a	n/a
37	UBTF	chr17:46713883-46714251	K562	blood:	n/a	n/a
38	CTCF	chr17:46713890-46714219	Gliobla	brain:	n/a	n/a
39	CTCF	chr17:46713809-46714253	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr17:46713810-46714214	IMR90	lung:	n/a	n/a
41	BHLHE40	chr17:46713855-46714203	K562	blood:	n/a	n/a
42	RAD21	chr17:46713821-46714196	HepG2	liver:	n/a	n/a
43	RAD21	chr17:46713735-46714342	A549	lung:	n/a	n/a
44	CTCF	chr17:46713794-46714313	K562	blood:	n/a	n/a
45	CTCF	chr17:46713861-46714266	MCF-7	breast:	n/a	n/a
46	CTCFL	chr17:46713912-46714157	K562	blood:	n/a	n/a
47	RAD21	chr17:46713908-46714191	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr17:46713847-46714306	MCF-7	breast:	n/a	n/a
49	YY1	chr17:46713868-46714086	K562	blood:	n/a	n/a
50	EP300	chr17:46713732-46714416	A549	lung:	n/a	chr17:46714206-46714222

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46702843..46703458-chr17:46713776..46714504,2	MCF-7	breast:
2	chr17:46336874..46338866-chr17:46712341..46715282,2	MCF-7	breast:
3	chr17:46713384..46715041-chr17:46723549..46725471,2	MCF-7	breast:
4	chr17:46713679..46714197-chr17:46749118..46749636,2	MCF-7	breast:
5	chr17:46703135..46703680-chr17:46713604..46714199,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HOXB7-1	chr17:46713901-46714135	XLOC_012505
2	lnc-HOXB7-1	chr17:46713654-46714135	XLOC_012505
3	lnc-HOXB7-1	chr17:46713908-46714135	XLOC_012505
4	lnc-HOXB7-1	chr17:46710876-46714135	ENSG00000260027.1
5	lnc-HOXB7-1	chr17:46713285-46714135	ENSG00000272763.1
6	lnc-HOXB7-1	chr17:46713900-46714135	ENSG00000272763.1

No data

Variant related genes	Relation type
HOXB7	TF binding region
MIR196A1	TF binding region
ENSG00000272763	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11079833	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12602926	0.81[ASN][1000 genomes]
rs35453674	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3744773	0.81[AMR][1000 genomes]
rs57884632	0.84[EUR][1000 genomes]
rs6504484	0.87[ASN][1000 genomes]
rs8078077	0.87[ASN][1000 genomes]
rs9897918	1.00[CEU][hapmap]
rs9911009	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
2	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
3	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
4	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
5	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
6	nsv908581	chr17:46610646-46735520	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
7	nsv833471	chr17:46617787-46783345	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	356 gene(s)	inside rSNPs	diseases
8	nsv908584	chr17:46618926-46735520	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
9	nsv543380	chr17:46686151-46721371	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46711400-46714000	Weak transcription	Pancreas	Pancrea
2	chr17:46713000-46714000	Genic enhancers	Rectal Mucosa Donor 31	rectum
3	chr17:46713200-46714400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr17:46713400-46714400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
5	chr17:46713600-46714000	Bivalent Enhancer	HepG2	liver
6	chr17:46713600-46714200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
7	chr17:46713600-46714200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr17:46713600-46714200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:46713600-46714200	Bivalent Enhancer	Adipose Nuclei	Adipose
10	chr17:46713600-46714200	Bivalent/Poised TSS	Colonic Mucosa	Colon
11	chr17:46713600-46714200	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr17:46713600-46714400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr17:46713600-46714400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr17:46713600-46714400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr17:46713600-46714400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
16	chr17:46713600-46714400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:46713600-46714400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
18	chr17:46713600-46714400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:46713600-46714400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
20	chr17:46713600-46714400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr17:46713600-46714400	Bivalent Enhancer	Placenta	Placenta
22	chr17:46713600-46714400	Bivalent Enhancer	Fetal Stomach	stomach
23	chr17:46713600-46714600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr17:46713600-46716800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:46713800-46714000	Active TSS	K562	blood
26	chr17:46713800-46714200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:46713800-46714200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:46713800-46714200	Bivalent Enhancer	Fetal Thymus	thymus
29	chr17:46713800-46714200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
30	chr17:46713800-46714200	Active TSS	A549	lung
31	chr17:46713800-46714400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
32	chr17:46713800-46714400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
33	chr17:46713800-46714400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr17:46713800-46714400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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