Variant report

Variant	rs11570461
Chromosome Location	chr17:45259022-45259023
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr17:45258764-45259152	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr17:45258876-45259109	MCF-7	breast:	n/a	n/a
3	ELK1	chr17:45258762-45259161	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr17:45258927-45259270	MCF-7	breast:	n/a	n/a
5	CTCF	chr17:45258880-45259030	GM12873	blood:	n/a	n/a
6	CTCF	chr17:45258920-45259070	AoAF	blood vessel:	n/a	n/a
7	CTCF	chr17:45258928-45259030	A549	lung:	n/a	n/a
8	RCOR1	chr17:45258768-45259153	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr17:45258940-45259090	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr17:45258917-45259090	MCF-7	breast:	n/a	n/a
11	MAZ	chr17:45258764-45259158	Hela-S3	cervix:	n/a	n/a
12	FOXP2	chr17:45258854-45259058	SK-N-MC	brain:	n/a	chr17:45259027-45259039
13	CTCF	chr17:45258932-45259068	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF384	chr17:45258561-45259157	GM12878	blood:	n/a	n/a
15	CTCF	chr17:45258940-45259090	GM12872	blood:	n/a	n/a
16	MYC	chr17:45258766-45259196	MCF-7	breast:	n/a	n/a
17	CTCF	chr17:45258960-45259110	NHLF	lung:	n/a	n/a
18	CTCF	chr17:45258934-45259036	GM19238	blood:	n/a	n/a
19	POLR2A	chr17:45258933-45259023	ProgFib	skin:	n/a	n/a
20	UBTF	chr17:45258767-45259157	K562	blood:	n/a	n/a
21	CTCF	chr17:45258900-45259050	AG04449	skin:	n/a	n/a
22	TBL1XR1	chr17:45258766-45259157	K562	blood:	n/a	n/a
23	CTCF	chr17:45258932-45259071	GM12891	blood:	n/a	n/a
24	CEBPB	chr17:45258766-45259309	K562	blood:	n/a	n/a
25	ZNF384	chr17:45258567-45259133	K562	blood:	n/a	n/a
26	CTCF	chr17:45258887-45259100	MCF-7	breast:	n/a	n/a
27	ZNF143	chr17:45258765-45259161	Hela-S3	cervix:	n/a	chr17:45259119-45259137
28	CTCF	chr17:45258900-45259050	WERI-Rb-1	eye:	n/a	n/a
29	MYC	chr17:45258902-45259211	MCF-7	breast:	n/a	n/a
30	CTCF	chr17:45258932-45259062	GM19239	blood:	n/a	n/a
31	POLR2A	chr17:45258909-45259148	A549	lung:	n/a	n/a
32	CTCF	chr17:45258900-45259050	HL-60	blood:	n/a	n/a
33	GTF2F1	chr17:45258763-45259152	H1-hESC	embryonic stem cell:	n/a	n/a
34	FOXP2	chr17:45258844-45259063	SK-N-MC	brain:	n/a	chr17:45259027-45259039
35	SMC3	chr17:45258763-45259148	K562	blood:	n/a	n/a
36	STAT3	chr17:45258765-45259132	MCF10A-Er-Src	breast:	n/a	n/a
37	ZKSCAN1	chr17:45258769-45259154	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr17:45258900-45259050	HCT-116	colon:	n/a	n/a
39	MYC	chr17:45258890-45259167	MCF-7	breast:	n/a	n/a
40	CTCF	chr17:45258846-45259098	ProgFib	skin:	n/a	n/a
41	POLR2A	chr17:45258832-45259291	MCF-7	breast:	n/a	n/a
42	CTCF	chr17:45258933-45259039	GM19240	blood:	n/a	n/a
43	CTCF	chr17:45258940-45259090	HCPEpiC	choroid plexus:	n/a	n/a
44	BRCA1	chr17:45258767-45259155	GM12878	blood:	n/a	n/a
45	CTCF	chr17:45258900-45259050	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr17:45258932-45259065	GM12892	blood:	n/a	n/a
47	BHLHE40	chr17:45258767-45259159	K562	blood:	n/a	n/a
48	POLR2A	chr17:45258932-45259153	K562	blood:	n/a	n/a
49	IKZF1	chr17:45258792-45259133	GM12878	blood:	n/a	n/a
50	MYC	chr17:45258929-45259184	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45257479..45260473-chr2:133018355..133021074,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000233786	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35647835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71375371	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv3584	chr17:45246216-45265642	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3790	chr17:45247093-45261518	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv6873	chr17:45247370-45266575	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3438623	chr17:45249255-45266618	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3437669	chr17:45249306-45259022	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv8330	chr17:45249307-45266621	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3431737	chr17:45249325-45259054	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3374428	chr17:45249343-45266580	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv960117	chr17:45257797-45260714	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv3373405	chr17:45258905-45266622	Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3414401	chr17:45258915-45266609	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3522393	chr17:45258921-45266590	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv3522394	chr17:45258921-45266590	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv3392762	chr17:45258946-45266562	Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv3314731	chr17:45258949-45266545	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv3314732	chr17:45258949-45266545	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	esv3397910	chr17:45258965-45266531	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	esv4785	chr17:45258973-45266557	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	esv4323	chr17:45258973-45266558	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45251200-45259200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr17:45251200-45260600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr17:45252600-45259200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr17:45253200-45265200	Weak transcription	Brain Germinal Matrix	brain
5	chr17:45254200-45259200	Strong transcription	Osteobl	bone
6	chr17:45255200-45263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:45257000-45265600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:45257600-45259400	Genic enhancers	HepG2	liver
9	chr17:45258600-45259400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:45258800-45259200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr17:45258800-45259200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr17:45258800-45259200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:45258800-45259200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:45258800-45259200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:45258800-45259200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr17:45258800-45259200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:45258800-45259200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:45258800-45259200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr17:45258800-45259200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:45258800-45259200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:45258800-45259200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr17:45258800-45259200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr17:45258800-45259200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr17:45258800-45259200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
25	chr17:45258800-45259200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
26	chr17:45258800-45259200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr17:45258800-45259200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:45258800-45259200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:45258800-45259200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:45258800-45259200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:45258800-45259200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr17:45258800-45259200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr17:45258800-45259200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
34	chr17:45258800-45259200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
35	chr17:45258800-45259200	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr17:45258800-45259200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
37	chr17:45258800-45259200	ZNF genes & repeats	Primary T cells from cord blood	blood
38	chr17:45258800-45259200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
39	chr17:45258800-45259200	Enhancers	Primary hematopoietic stem cells	blood
40	chr17:45258800-45259200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr17:45258800-45259200	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
42	chr17:45258800-45259200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
43	chr17:45258800-45259200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
44	chr17:45258800-45259200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
45	chr17:45258800-45259200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
46	chr17:45258800-45259200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
47	chr17:45258800-45259200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
48	chr17:45258800-45259200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
49	chr17:45258800-45259200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr17:45258800-45259200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood

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