Variant report

Variant	rs11079761
Chromosome Location	chr17:45266432-45266433
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:399)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr17:45266113-45266694	PFSK-1	brain:	n/a	n/a
2	RXRA	chr17:45266106-45266543	HepG2	liver:	n/a	n/a
3	BCL3	chr17:45265592-45266765	A549	lung:	n/a	chr17:45265804-45265813
4	TCF12	chr17:45266369-45266668	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr17:45266191-45266704	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr17:45266416-45266577	GM19239	blood:	n/a	n/a
7	MAZ	chr17:45266112-45267046	HepG2	liver:	n/a	n/a
8	TBL1XR1	chr17:45266037-45267227	K562	blood:	n/a	n/a
9	CTCF	chr17:45266420-45266570	HMEC	breast:	n/a	n/a
10	CTCF	chr17:45266400-45266550	GM12874	blood:	n/a	n/a
11	POLR2A	chr17:45266115-45267352	U87	brain:	n/a	n/a
12	MYC	chr17:45266343-45266578	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr17:45266400-45266550	HPF	lung:	n/a	n/a
14	POLR2A	chr17:45266081-45266730	K562	blood:	n/a	n/a
15	ZBTB33	chr17:45266157-45267093	A549	lung:	n/a	n/a
16	SMC3	chr17:45266340-45266825	K562	blood:	n/a	n/a
17	YY1	chr17:45266065-45267162	K562	blood:	n/a	n/a
18	POLR2A	chr17:45266090-45267262	K562	blood:	n/a	n/a
19	CHD2	chr17:45266356-45267003	HepG2	liver:	n/a	n/a
20	NFIC	chr17:45265784-45267200	HepG2	liver:	n/a	chr17:45266470-45266487
21	MAX	chr17:45266217-45267133	K562	blood:	n/a	n/a
22	POLR2A	chr17:45266140-45266728	HepG2	liver:	n/a	n/a
23	CREB1	chr17:45266088-45267109	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr17:45265755-45266733	A549	lung:	n/a	n/a
25	ZNF384	chr17:45266349-45266783	GM12878	blood:	n/a	n/a
26	MAFK	chr17:45266185-45267032	HepG2	liver:	n/a	n/a
27	PML	chr17:45265840-45267289	GM12878	blood:	n/a	chr17:45266841-45266849
28	CTCF	chr17:45266400-45266550	SAEC	small airway:	n/a	n/a
29	MAFK	chr17:45266273-45266950	HepG2	liver:	n/a	n/a
30	ELF1	chr17:45266320-45267037	K562	blood:	n/a	n/a
31	CEBPD	chr17:45266285-45266708	HepG2	liver:	n/a	n/a
32	TAF1	chr17:45266145-45266764	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZNF143	chr17:45266345-45266995	K562	blood:	n/a	n/a
34	POLR2A	chr17:45266046-45267064	H1-neurons	neurons:	n/a	n/a
35	USF2	chr17:45266357-45266825	HepG2	liver:	n/a	n/a
36	POLR2A	chr17:45266232-45266670	H1-hESC	embryonic stem cell:	n/a	n/a
37	UBTF	chr17:45265477-45267068	K562	blood:	n/a	n/a
38	ARID3A	chr17:45266342-45267543	K562	blood:	n/a	n/a
39	HEY1	chr17:45266188-45266777	K562	blood:	n/a	chr17:45266587-45266602
40	SP2	chr17:45266323-45266699	K562	blood:	n/a	n/a
41	EP300	chr17:45266337-45267202	GM12878	blood:	n/a	chr17:45266426-45266442
42	ZC3H11A	chr17:45266217-45266818	K562	blood:	n/a	n/a
43	CTCF	chr17:45266400-45266550	GM06990	blood:	n/a	n/a
44	REST	chr17:45266290-45266681	K562	blood:	n/a	chr17:45266596-45266609
45	POLR2A	chr17:45266315-45266730	MCF-7	breast:	n/a	n/a
46	RFX5	chr17:45265738-45266827	K562	blood:	n/a	n/a
47	CEBPB	chr17:45266154-45267265	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr17:45266167-45267106	Hela-S3	cervix:	n/a	n/a
49	TAF1	chr17:45266092-45267135	K562	blood:	n/a	n/a
50	HCFC1	chr17:45265488-45267486	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:45256968..45259015-chr17:45265544..45267226,2	MCF-7	breast:
2	chr17:45264972..45267284-chr17:45403808..45405423,2	K562	blood:
3	chr1:155278256..155278852-chr17:45266250..45266967,2	Hela-S3	cervix:
4	chr17:45247336..45250133-chr17:45265157..45267526,3	MCF-7	breast:
5	chr17:45264884..45268790-chr17:45285196..45288860,4	K562	blood:
6	chr17:45264174..45269379-chr17:45283146..45288200,6	K562	blood:

No data

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000198336	Chromatin interaction
ENSG00000160752	Chromatin interaction
ENSG00000178852	Chromatin interaction
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11079759	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570441	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570451	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570487	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570506	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570520	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570529	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570543	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570557	1.00[ASN][1000 genomes]
rs11570562	1.00[ASN][1000 genomes]
rs11570568	1.00[ASN][1000 genomes]
rs11570570	1.00[ASN][1000 genomes]
rs11869591	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871824	0.84[EUR][1000 genomes]
rs12937083	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12937292	1.00[ASN][1000 genomes]
rs12939917	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12941464	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12947008	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12947898	1.00[ASN][1000 genomes]
rs12948241	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12950715	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515753	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941640	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040602	1.00[ASN][1000 genomes]
rs2317378	1.00[ASN][1000 genomes]
rs34006043	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34735768	1.00[ASN][1000 genomes]
rs34885810	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35536045	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35751916	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59581991	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66518624	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66976195	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67551364	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67777457	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71375393	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71375401	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823426	1.00[ASN][1000 genomes]
rs731790	1.00[ASN][1000 genomes]
rs7502265	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954344	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	esv3416394	chr17:45259161-45266566	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	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	chr17:45264600-45267200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:45264600-45267200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:45264800-45267200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:45265000-45267200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:45265200-45267200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:45265200-45267400	Active TSS	Muscle Satellite Cultured Cells	--
7	chr17:45265200-45267400	Active TSS	Brain Germinal Matrix	brain
8	chr17:45265200-45267400	Active TSS	Fetal Brain Female	brain
9	chr17:45265400-45266800	ZNF genes & repeats	Fetal Brain Male	brain
10	chr17:45265400-45267200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:45265400-45267200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:45265400-45267200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:45265400-45267200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:45265400-45267200	Active TSS	Fetal Heart	heart
15	chr17:45265400-45267200	Active TSS	HSMMtube	muscle
16	chr17:45265400-45267400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr17:45265400-45267400	Active TSS	Fetal Intestine Small	intestine
18	chr17:45265600-45266800	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr17:45265600-45266800	Bivalent/Poised TSS	HepG2	liver
20	chr17:45265600-45267200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr17:45265600-45267200	Active TSS	Ovary	ovary
22	chr17:45265600-45267400	Active TSS	Osteobl	bone
23	chr17:45265800-45266600	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr17:45265800-45267200	Active TSS	Fetal Kidney	kidney
25	chr17:45265800-45267200	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr17:45266000-45267000	Active TSS	Primary T cells from cord blood	blood
27	chr17:45266000-45267200	Active TSS	Placenta Amnion	Placenta Amnion
28	chr17:45266000-45267400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:45266000-45267600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:45266200-45266600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:45266200-45266800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:45266200-45266800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
33	chr17:45266400-45266600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr17:45266400-45266600	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:45266400-45266600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr17:45266400-45266600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:45266400-45266600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
38	chr17:45266400-45266600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
39	chr17:45266400-45266600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
40	chr17:45266400-45266600	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr17:45266400-45266600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:45266400-45266600	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
43	chr17:45266400-45266600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
44	chr17:45266400-45266600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr17:45266400-45266600	Flanking Bivalent TSS/Enh	Liver	Liver
46	chr17:45266400-45266600	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
47	chr17:45266400-45266600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
48	chr17:45266400-45266600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
49	chr17:45266400-45266600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
50	chr17:45266400-45266600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum

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