Variant report

Variant	rs4925170
Chromosome Location	chr17:18223448-18223449
allele	A/G
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	CTCF	chr17:18223163-18223534	H1-hESC	embryonic stem cell:	n/a	chr17:18223329-18223347
2	RAD21	chr17:18223106-18223609	MCF-7	breast:	n/a	chr17:18223330-18223349
3	RAD21	chr17:18223099-18223740	SK-N-SH	brain:	n/a	chr17:18223330-18223349
4	RAD21	chr17:18223092-18223573	H1-hESC	embryonic stem cell:	n/a	chr17:18223330-18223349
5	MAFK	chr17:18223244-18223503	HepG2	liver:	n/a	chr17:18223347-18223367 chr17:18223349-18223365 chr17:18223350-18223364
6	POLR2A	chr17:18223273-18224203	GM12891	blood:	n/a	n/a
7	ZNF143	chr17:18223294-18223500	K562	blood:	n/a	n/a
8	CTCF	chr17:18223300-18223450	HepG2	liver:	n/a	chr17:18223329-18223347
9	CTCF	chr17:18223251-18223456	Kidney_OC	kidney:	n/a	chr17:18223329-18223347
10	MAFF	chr17:18223298-18223473	K562	blood:	n/a	chr17:18223344-18223362 chr17:18223350-18223364
11	CTCF	chr17:18223380-18223530	WI-38	lung:	n/a	n/a
12	RAD21	chr17:18223128-18223558	IMR90	lung:	n/a	chr17:18223330-18223349
13	POLR2A	chr17:18223276-18223632	K562	blood:	n/a	n/a
14	MAFK	chr17:18223231-18223591	HepG2	liver:	n/a	chr17:18223347-18223367 chr17:18223349-18223365 chr17:18223350-18223364
15	CTCF	chr17:18223232-18223494	GM12891	blood:	n/a	chr17:18223329-18223347
16	RAD21	chr17:18223236-18223456	GM12878	blood:	n/a	chr17:18223330-18223349
17	CTCF	chr17:18223153-18223548	GM12878	blood:	n/a	chr17:18223329-18223347
18	CTCF	chr17:18222999-18223729	A549	lung:	n/a	chr17:18223329-18223347
19	CTCF	chr17:18223223-18223460	T-47D	breast:	n/a	chr17:18223329-18223347
20	POLR2A	chr17:18223253-18224443	HepG2	liver:	n/a	n/a
21	BHLHE40	chr17:18223202-18223535	K562	blood:	n/a	n/a
22	RAD21	chr17:18223155-18223570	SK-N-SH_RA	brain:	n/a	chr17:18223330-18223349
23	POLR2A	chr17:18222988-18223669	HepG2	liver:	n/a	n/a
24	MAFF	chr17:18223215-18223511	HepG2	liver:	n/a	chr17:18223344-18223362 chr17:18223350-18223364
25	CTCF	chr17:18223300-18223450	HUVEC	blood vessel:	n/a	chr17:18223329-18223347
26	RAD21	chr17:18223185-18223528	HepG2	liver:	n/a	chr17:18223330-18223349
27	CTCF	chr17:18223320-18223470	NHEK	skin:	n/a	chr17:18223329-18223347
28	NFYB	chr17:18223364-18223596	K562	blood:	n/a	n/a
29	POLR2A	chr17:18223350-18223595	MCF10A-Er-Src	breast:	n/a	n/a
30	RAD21	chr17:18223121-18223601	MCF-7	breast:	n/a	chr17:18223330-18223349
31	POLR2A	chr17:18222965-18223640	HepG2	liver:	n/a	n/a
32	CTCF	chr17:18223043-18223884	SK-N-SH	brain:	n/a	chr17:18223329-18223347
33	CTCF	chr17:18223164-18223479	A549	lung:	n/a	chr17:18223329-18223347
34	RAD21	chr17:18223086-18223605	HCT-116	colon:	n/a	chr17:18223330-18223349
35	SMC3	chr17:18223175-18223559	GM12878	blood:	n/a	chr17:18223331-18223345
36	CTCF	chr17:18223219-18223473	MCF-7	breast:	n/a	chr17:18223329-18223347
37	CTCF	chr17:18223219-18223451	K562	blood:	n/a	chr17:18223329-18223347
38	POLR2A	chr17:18223347-18225167	A549	lung:	n/a	n/a
39	CTCF	chr17:18223100-18223604	MCF-7	breast:	n/a	chr17:18223329-18223347
40	RAD21	chr17:18223208-18223528	A549	lung:	n/a	chr17:18223330-18223349
41	RAD21	chr17:18223176-18223561	GM12878	blood:	n/a	chr17:18223330-18223349
42	CTCF	chr17:18223300-18223450	GM12868	blood:	n/a	chr17:18223329-18223347
43	CTCF	chr17:18223122-18223468	HepG2	liver:	n/a	chr17:18223329-18223347
44	POLR2A	chr17:18223381-18223625	H1-hESC	embryonic stem cell:	n/a	n/a
45	SMC3	chr17:18223017-18223588	SK-N-SH	brain:	n/a	chr17:18223331-18223345
46	CTCF	chr17:18223221-18223450	GM19240	blood:	n/a	chr17:18223329-18223347
47	CTCF	chr17:18223235-18223449	H1-hESC	embryonic stem cell:	n/a	chr17:18223329-18223347
48	RAD21	chr17:18223151-18223557	H1-hESC	embryonic stem cell:	n/a	chr17:18223330-18223349
49	CTCF	chr17:18223235-18223463	HepG2	liver:	n/a	chr17:18223329-18223347
50	CTCF	chr17:18223160-18223459	A549	lung:	n/a	chr17:18223329-18223347

No.	Distal block	Cell Line	Cell type
1	chr17:18142816..18144469-chr17:18222241..18223904,2	K562	blood:
2	chr17:18222298..18225183-chr17:18254419..18256749,2	MCF-7	breast:
3	chr17:18217609..18225680-chr17:18226125..18232187,14	K562	blood:
4	chr17:18160479..18164858-chr17:18221003..18224877,4	MCF-7	breast:
5	chr17:18163811..18165499-chr17:18223440..18225988,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267350	TF binding region
ENSG00000267350	Chromatin interaction
ENSG00000177427	Chromatin interaction
ENSG00000177731	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11540888	1.00[ASN][1000 genomes]
rs11870681	1.00[ASN][1000 genomes]
rs16961058	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16961060	1.00[CEU][hapmap]
rs16961112	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2125154	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28523978	1.00[CEU][hapmap]
rs28671051	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4924848	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925173	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925174	1.00[CEU][hapmap]
rs4925175	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925180	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55973639	1.00[ASN][1000 genomes]
rs61753153	1.00[ASN][1000 genomes]
rs6502648	1.00[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222589	1.00[ASN][1000 genomes]
rs73980813	1.00[ASN][1000 genomes]
rs73980819	1.00[ASN][1000 genomes]
rs73980849	1.00[ASN][1000 genomes]
rs73980856	1.00[ASN][1000 genomes]
rs73980857	1.00[ASN][1000 genomes]
rs8074858	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8080285	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8082574	1.00[ASN][1000 genomes]
rs9893254	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9894005	1.00[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9894616	1.00[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9897239	1.00[CEU][hapmap]
rs9897954	1.00[CEU][hapmap]
rs9898548	1.00[CEU][hapmap]
rs9900382	1.00[CEU][hapmap]
rs9902011	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9902498	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9903235	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9903762	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9904323	1.00[CEU][hapmap]
rs9907337	1.00[CEU][hapmap]
rs9913916	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9915858	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
2	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
3	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
4	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
5	nsv833386	chr17:18170261-18332726	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1057081	chr17:18171516-18256347	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv543247	chr17:18171516-18256347	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1062368	chr17:18180747-18259234	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv833387	chr17:18200081-18378155	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS 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	34 gene(s)	inside rSNPs	diseases
10	esv1806346	chr17:18200081-18446384	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	esv1812661	chr17:18200081-18446384	Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv428333	chr17:18200081-18446384	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' 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	39 gene(s)	inside rSNPs	diseases
13	nsv427992	chr17:18200081-19192047	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
14	nsv521075	chr17:18220770-18227081	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18219400-18224200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:18219400-18224200	Enhancers	Fetal Brain Male	brain
3	chr17:18219400-18224400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr17:18219400-18224800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr17:18219400-18227200	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr17:18219400-18266000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:18219600-18223600	Genic enhancers	Fetal Lung	lung
8	chr17:18219600-18223600	Genic enhancers	Fetal Muscle Leg	muscle
9	chr17:18219600-18223600	Genic enhancers	Fetal Stomach	stomach
10	chr17:18219600-18223800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr17:18219600-18224200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:18219600-18224200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:18219600-18224200	Genic enhancers	Liver	Liver
14	chr17:18219600-18224200	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr17:18219600-18224200	Genic enhancers	Left Ventricle	heart
16	chr17:18219600-18224400	Genic enhancers	Placenta	Placenta
17	chr17:18219600-18224600	Enhancers	Right Atrium	heart
18	chr17:18219600-18224800	Genic enhancers	Primary B cells from peripheral blood	blood
19	chr17:18219600-18225000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr17:18219600-18226000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:18219800-18223600	Genic enhancers	Brain Hippocampus Middle	brain
22	chr17:18219800-18223800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr17:18219800-18223800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:18219800-18223800	Genic enhancers	Lung	lung
25	chr17:18219800-18223800	Genic enhancers	NHEK	skin
26	chr17:18219800-18224200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:18219800-18224200	Genic enhancers	Esophagus	oesophagus
28	chr17:18219800-18224200	Enhancers	Fetal Heart	heart
29	chr17:18219800-18224400	Genic enhancers	Spleen	Spleen
30	chr17:18219800-18224800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
31	chr17:18219800-18225000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
32	chr17:18219800-18226000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr17:18220000-18223600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:18220000-18224200	Genic enhancers	Colonic Mucosa	Colon
35	chr17:18220000-18224200	Genic enhancers	Rectal Mucosa Donor 31	rectum
36	chr17:18220000-18224800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr17:18220000-18226000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr17:18220200-18228000	Weak transcription	Fetal Kidney	kidney
39	chr17:18220400-18224200	Genic enhancers	Ovary	ovary
40	chr17:18220400-18228000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:18220600-18223800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
42	chr17:18220600-18224200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:18220600-18224800	Genic enhancers	Right Ventricle	heart
44	chr17:18220800-18224200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:18220800-18224200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr17:18220800-18224600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr17:18220800-18224800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr17:18220800-18224800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr17:18220800-18224800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
50	chr17:18221000-18223800	Enhancers	NH-A	brain

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