Variant report

Variant	rs59366579
Chromosome Location	chr17:18161744-18161745
allele	C/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	E2F4	chr17:18161296-18161746	MCF10A-Er-Src	breast:	n/a	n/a
2	MAZ	chr17:18160809-18162390	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:18161115-18162460	K562	blood:	n/a	n/a
4	POLR2A	chr17:18161013-18162396	PFSK-1	brain:	n/a	n/a
5	YY1	chr17:18161112-18162275	A549	lung:	n/a	chr17:18161260-18161269 chr17:18161813-18161827 chr17:18161260-18161271 chr17:18162109-18162123 chr17:18161816-18161827
6	ATF3	chr17:18161286-18161837	A549	lung:	n/a	chr17:18161813-18161822
7	MAX	chr17:18161074-18162483	K562	blood:	n/a	n/a
8	RUNX3	chr17:18161077-18161761	GM12878	blood:	n/a	n/a
9	POLR2A	chr17:18161690-18162253	H1-neurons	neurons:	n/a	n/a
10	BACH1	chr17:18161352-18162416	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr17:18161025-18162365	ProgFib	skin:	n/a	n/a
12	POLR2A	chr17:18161102-18162480	HCT-116	colon:	n/a	n/a
13	SP1	chr17:18161154-18162468	A549	lung:	n/a	chr17:18161267-18161277 chr17:18161611-18161623 chr17:18161811-18161823 chr17:18161811-18161823 chr17:18161813-18161822 chr17:18161806-18161818 chr17:18161267-18161277 chr17:18161812-18161822 chr17:18161266-18161278 chr17:18161612-18161621 chr17:18161812-18161821 chr17:18161812-18161821 chr17:18161613-18161622 chr17:18161807-18161816 chr17:18161613-18161622
14	MYBL2	chr17:18161536-18162362	HepG2	liver:	n/a	n/a
15	MAX	chr17:18161137-18162529	ECC-1	luminal epithelium:	n/a	n/a
16	MXI1	chr17:18160397-18162423	HepG2	liver:	n/a	n/a
17	CCNT2	chr17:18161243-18162370	K562	blood:	n/a	chr17:18161612-18161621
18	POLR2A	chr17:18161125-18161760	GM12891	blood:	n/a	n/a
19	MAX	chr17:18161113-18162598	NB4	blood:	n/a	n/a
20	YY1	chr17:18161185-18162195	SK-N-SH	brain:	n/a	chr17:18161260-18161269 chr17:18161813-18161827 chr17:18161260-18161271 chr17:18162109-18162123 chr17:18161816-18161827
21	POLR2A	chr17:18160581-18162629	Hela-S3	cervix:	n/a	n/a
22	STAT5A	chr17:18161620-18162361	GM12878	blood:	n/a	chr17:18161809-18161821 chr17:18161861-18161873
23	MTA3	chr17:18160877-18161915	GM12878	blood:	n/a	n/a
24	POLR2A	chr17:18161513-18162087	HepG2	liver:	n/a	n/a
25	BRCA1	chr17:18161596-18162140	HepG2	liver:	n/a	n/a
26	MAX	chr17:18161689-18162521	H1-hESC	embryonic stem cell:	n/a	n/a
27	SIN3AK20	chr17:18161741-18162210	K562	blood:	n/a	n/a
28	MAZ	chr17:18161075-18162482	K562	blood:	n/a	n/a
29	MAZ	chr17:18160818-18162437	Hela-S3	cervix:	n/a	n/a
30	NFIC	chr17:18161090-18162164	ECC-1	luminal epithelium:	n/a	n/a
31	RFX5	chr17:18161129-18162295	Hela-S3	cervix:	n/a	n/a
32	BCL3	chr17:18161159-18162589	A549	lung:	n/a	chr17:18161262-18161271 chr17:18161819-18161832
33	SMC3	chr17:18161058-18162478	Hela-S3	cervix:	n/a	n/a
34	SIN3AK20	chr17:18161185-18162276	MCF-7	breast:	n/a	n/a
35	ELK1	chr17:18161392-18162477	GM12878	blood:	n/a	n/a
36	JUND	chr17:18160549-18162498	H1-hESC	embryonic stem cell:	n/a	n/a
37	TAF1	chr17:18161027-18162161	A549	lung:	n/a	n/a
38	POLR2A	chr17:18161122-18162468	GM19193	blood:	n/a	n/a
39	NR2F2	chr17:18160434-18162450	MCF-7	breast:	n/a	n/a
40	POLR2A	chr17:18161175-18162465	GM15510	blood:	n/a	n/a
41	RCOR1	chr17:18161196-18162488	HepG2	liver:	n/a	n/a
42	YY1	chr17:18161108-18162248	GM12892	blood:	n/a	chr17:18161260-18161269 chr17:18161813-18161827 chr17:18161260-18161271 chr17:18162109-18162123 chr17:18161816-18161827
43	MAZ	chr17:18161012-18162448	GM12878	blood:	n/a	n/a
44	MAFK	chr17:18161136-18162509	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr17:18161124-18162303	HUVEC	blood vessel:	n/a	n/a
46	FOS	chr17:18161308-18162014	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr17:18161125-18162452	NB4	blood:	n/a	n/a
48	TFAP2C	chr17:18161289-18162540	Hela-S3	cervix:	n/a	n/a
49	MXI1	chr17:18160692-18162606	IMR90	lung:	n/a	n/a
50	YY1	chr17:18161208-18162245	ECC-1	luminal epithelium:	n/a	chr17:18161260-18161269 chr17:18161813-18161827 chr17:18161260-18161271 chr17:18162109-18162123 chr17:18161816-18161827

No.	Distal block	Cell Line	Cell type
1	chr17:18085197..18089449-chr17:18160313..18164902,6	K562	blood:
2	chr17:18149206..18150883-chr17:18160011..18162354,3	K562	blood:
3	chr17:18160843..18161823-chr5:43121170..43122409,3	Hela-S3	cervix:
4	chr17:18086297..18088229-chr17:18161732..18163616,2	MCF-7	breast:
5	chr17:18127100..18135567-chr17:18158023..18168767,25	MCF-7	breast:
6	chr17:18156705..18166530-chr17:18215131..18220177,19	MCF-7	breast:
7	chr17:18086032..18088176-chr17:18160313..18162937,3	K562	blood:
8	chr17:18160519..18163064-chr17:57184178..57185847,2	MCF-7	breast:
9	chr17:18126073..18132705-chr17:18158327..18165323,14	MCF-7	breast:
10	chr17:18085788..18088045-chr17:18160400..18163100,2	MCF-7	breast:
11	chr17:18160366..18162830-chr17:18217207..18220188,2	K562	blood:
12	chr17:18161401..18162140-chrX:77395095..77395730,2	Hela-S3	cervix:
13	chr17:18158589..18161919-chr17:18164225..18167330,4	K562	blood:
14	chr17:18159414..18161817-chr17:18169101..18171467,2	K562	blood:
15	chr17:18135795..18137603-chr17:18160135..18163013,2	MCF-7	breast:
16	chr17:18160932..18162896-chr17:18279447..18281125,2	MCF-7	breast:
17	chr17:18159194..18166260-chr17:18215929..18222740,16	MCF-7	breast:

Variant related genes	Relation type
MIEF2	TF binding region
FLII	TF binding region
ENSG00000237382	Chromatin interaction
ENSG00000228000	Chromatin interaction
ENSG00000187325	Chromatin interaction
ENSG00000091542	Chromatin interaction
ENSG00000214860	Chromatin interaction
ENSG00000176994	Chromatin interaction
ENSG00000177731	Chromatin interaction
ENSG00000131899	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000260647	Chromatin interaction
ENSG00000177302	Chromatin interaction
ENSG00000108395	Chromatin interaction
ENSG00000266677	Chromatin interaction
ENSG00000177427	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11078415	0.81[EUR][1000 genomes]
rs11867855	0.81[EUR][1000 genomes]
rs11867895	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11868708	0.84[EUR][1000 genomes]
rs11869952	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11871761	0.83[EUR][1000 genomes]
rs11872031	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12449313	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12450760	0.86[EUR][1000 genomes]
rs12451555	0.86[EUR][1000 genomes]
rs12451698	0.87[EUR][1000 genomes]
rs12939851	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16961114	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16961133	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16961153	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1925	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1962949	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1962950	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2071242	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2273029	0.85[EUR][1000 genomes]
rs2290502	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2290503	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2290504	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2290505	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2294913	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28364628	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35738574	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3817992	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3829956	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3862147	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3889544	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4386179	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4450455	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4500798	0.86[EUR][1000 genomes]
rs4556848	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4925151	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4925177	0.86[EUR][1000 genomes]
rs4925178	0.86[EUR][1000 genomes]
rs57490980	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57697650	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62072507	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62072509	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62072511	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62072515	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62072537	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62072540	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62072541	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62072545	0.86[EUR][1000 genomes]
rs6502641	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7211573	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7215678	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7405677	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7498	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8081042	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8081155	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8081343	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9901707	0.86[EUR][1000 genomes]
rs9909104	0.87[EUR][1000 genomes]
rs9910090	0.86[EUR][1000 genomes]
rs9913139	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
5	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
6	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv543246	chr17:18121007-18165604	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
10	nsv9503	chr17:18121474-18169166	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
11	nsv907776	chr17:18122485-18170948	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
12	nsv1066718	chr17:18125122-18180807	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv907777	chr17:18131087-18163262	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 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	chr17:18159000-18162400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr17:18159200-18162000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:18160200-18162400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:18160400-18162200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr17:18160400-18162400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr17:18160400-18162600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr17:18160600-18162200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr17:18160600-18162200	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr17:18160600-18162400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr17:18160600-18162400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:18160600-18162600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr17:18160600-18162600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr17:18160800-18162200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:18160800-18162200	Active TSS	NHDF-Ad	bronchial
15	chr17:18160800-18162400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr17:18160800-18162400	Active TSS	Fetal Kidney	kidney
17	chr17:18160800-18162600	Active TSS	HSMMtube	muscle
18	chr17:18160800-18165000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr17:18160800-18165200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr17:18161000-18162200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:18161000-18162200	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr17:18161000-18162200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr17:18161000-18162200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:18161000-18162200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:18161000-18162200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:18161000-18162200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr17:18161000-18162200	Active TSS	Muscle Satellite Cultured Cells	--
28	chr17:18161000-18162200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr17:18161000-18162200	Active TSS	Gastric	stomach
30	chr17:18161000-18162200	Active TSS	Pancreas	Pancrea
31	chr17:18161000-18162200	Active TSS	A549	lung
32	chr17:18161000-18162200	Active TSS	GM12878-XiMat	blood
33	chr17:18161000-18162200	Active TSS	HSMM	muscle
34	chr17:18161000-18162200	Active TSS	NHEK	skin
35	chr17:18161000-18162200	Active TSS	NHLF	lung
36	chr17:18161000-18162400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:18161000-18162400	Active TSS	Aorta	Aorta
38	chr17:18161000-18162400	Active TSS	Left Ventricle	heart
39	chr17:18161000-18162400	Active TSS	Lung	lung
40	chr17:18161000-18162400	Active TSS	Ovary	ovary
41	chr17:18161000-18162400	Active TSS	Placenta Amnion	Placenta Amnion
42	chr17:18161000-18162400	Active TSS	Psoas Muscle	Psoas
43	chr17:18161000-18162400	Active TSS	Right Atrium	heart
44	chr17:18161000-18162400	Active TSS	Small Intestine	intestine
45	chr17:18161000-18162400	Active TSS	Hela-S3	cervix
46	chr17:18161000-18162600	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr17:18161000-18162600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr17:18161000-18162600	Bivalent/Poised TSS	HepG2	liver
49	chr17:18161000-18163400	Active TSS	Rectal Smooth Muscle	rectum
50	chr17:18161200-18161800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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