Variant report

Variant	rs1719189
Chromosome Location	chr17:34296925-34296926
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	SMC3	chr17:34296442-34297169	HepG2	liver:	n/a	chr17:34296690-34296704
2	SMC3	chr17:34296458-34297297	GM12878	blood:	n/a	chr17:34296690-34296704
3	RAD21	chr17:34296415-34296947	H1-hESC	embryonic stem cell:	n/a	chr17:34296689-34296708
4	CTCF	chr17:34296487-34296984	MCF-7	breast:	n/a	chr17:34296690-34296711 chr17:34296688-34296706 chr17:34296689-34296705 chr17:34296691-34296704
5	RAD21	chr17:34296471-34297081	HCT-116	colon:	n/a	chr17:34296689-34296708
6	RAD21	chr17:34296533-34296986	MCF-7	breast:	n/a	chr17:34296689-34296708
7	RAD21	chr17:34296462-34297028	H1-hESC	embryonic stem cell:	n/a	chr17:34296689-34296708
8	MAFK	chr17:34296499-34296950	HepG2	liver:	n/a	n/a
9	EBF1	chr17:34296605-34297152	GM12878	blood:	n/a	n/a
10	RAD21	chr17:34296459-34297025	A549	lung:	n/a	chr17:34296689-34296708
11	RAD21	chr17:34296492-34296925	Hela-S3	cervix:	n/a	chr17:34296689-34296708
12	MYBL2	chr17:34296565-34297241	HepG2	liver:	n/a	n/a
13	CTCF	chr17:34296501-34296949	HepG2	liver:	n/a	chr17:34296690-34296711 chr17:34296688-34296706 chr17:34296689-34296705 chr17:34296691-34296704
14	NFIC	chr17:34296498-34296944	HepG2	liver:	n/a	n/a
15	MTA3	chr17:34296428-34296983	GM12878	blood:	n/a	n/a
16	RAD21	chr17:34296392-34297055	HepG2	liver:	n/a	chr17:34296689-34296708
17	CTCF	chr17:34296463-34297012	HCT-116	colon:	n/a	chr17:34296690-34296711 chr17:34296688-34296706 chr17:34296689-34296705 chr17:34296691-34296704
18	RAD21	chr17:34296496-34297052	H1-hESC	embryonic stem cell:	n/a	chr17:34296689-34296708
19	CTCF	chr17:34296422-34296952	A549	lung:	n/a	chr17:34296690-34296711 chr17:34296688-34296706 chr17:34296689-34296705 chr17:34296691-34296704
20	CTCF	chr17:34296513-34296936	HepG2	liver:	n/a	chr17:34296690-34296711 chr17:34296688-34296706 chr17:34296689-34296705 chr17:34296691-34296704
21	RAD21	chr17:34296476-34297168	HepG2	liver:	n/a	chr17:34296689-34296708
22	CTCF	chr17:34296477-34297374	GM12878	blood:	n/a	chr17:34296690-34296711 chr17:34296688-34296706 chr17:34296689-34296705 chr17:34296691-34296704
23	RAD21	chr17:34296479-34297032	ECC-1	luminal epithelium:	n/a	chr17:34296689-34296708
24	CTCF	chr17:34296540-34296940	MCF-7	breast:	n/a	chr17:34296690-34296711 chr17:34296688-34296706 chr17:34296689-34296705 chr17:34296691-34296704
25	RAD21	chr17:34296469-34296981	MCF-7	breast:	n/a	chr17:34296689-34296708
26	RAD21	chr17:34296504-34296951	GM12878	blood:	n/a	chr17:34296689-34296708
27	RAD21	chr17:34296466-34297101	HepG2	liver:	n/a	chr17:34296689-34296708
28	CTCF	chr17:34296318-34297466	A549	lung:	n/a	chr17:34296690-34296711 chr17:34296688-34296706 chr17:34296689-34296705 chr17:34296691-34296704
29	CTCF	chr17:34296469-34297028	K562	blood:	n/a	chr17:34296690-34296711 chr17:34296688-34296706 chr17:34296689-34296705 chr17:34296691-34296704
30	SMC3	chr17:34296324-34297384	SK-N-SH	brain:	n/a	chr17:34296690-34296704
31	RAD21	chr17:34296266-34297122	SK-N-SH	brain:	n/a	chr17:34296689-34296708
32	CTCF	chr17:34296320-34297282	SK-N-SH	brain:	n/a	chr17:34296690-34296711 chr17:34296688-34296706 chr17:34296689-34296705 chr17:34296691-34296704
33	RAD21	chr17:34296337-34297064	A549	lung:	n/a	chr17:34296689-34296708
34	RAD21	chr17:34296479-34297232	GM12878	blood:	n/a	chr17:34296689-34296708
35	SMC3	chr17:34296497-34297063	Hela-S3	cervix:	n/a	chr17:34296690-34296704
36	RAD21	chr17:34296437-34296989	ECC-1	luminal epithelium:	n/a	chr17:34296689-34296708
37	WRNIP1	chr17:34296513-34296943	GM12878	blood:	n/a	n/a
38	RAD21	chr17:34296323-34297040	HCT-116	colon:	n/a	chr17:34296689-34296708

No.	Distal block	Cell Line	Cell type
1	chr17:34296176..34297342-chr17:34476096..34477335,5	MCF-7	breast:
2	chr17:34296213..34297122-chr17:34336462..34336967,2	K562	blood:
3	chr17:34296429..34297161-chr17:34476008..34476598,8	K562	blood:

Variant related genes	Relation type
ENSG00000267657	TF binding region
ENSG00000267566	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1635271	0.92[AFR][1000 genomes]
rs1635272	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1635273	0.88[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1635275	0.80[ASN][1000 genomes]
rs1635276	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1635277	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1635278	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1635281	0.94[ASW][hapmap];0.85[CEU][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.90[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1635282	0.89[ASW][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1635283	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1719190	0.86[AFR][1000 genomes]
rs1719191	0.86[AFR][1000 genomes]
rs1719193	0.85[AFR][1000 genomes]
rs1734970	0.89[AFR][1000 genomes]
rs1734971	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2687506	0.90[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2735488	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2735489	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2951874	0.90[AFR][1000 genomes]
rs4795105	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56323123	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60764079	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62078065	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs854647	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs854648	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs854649	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs854650	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs854651	0.85[CEU][hapmap];0.92[GIH][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.90[TSI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs854652	0.85[CEU][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs854653	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs860557	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs860558	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs862819	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs864403	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs865922	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063100	chr17:34246253-34397598	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833424	chr17:34246253-34419476	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1056950	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1059795	chr17:34246253-34442620	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1060457	chr17:34246253-34442620	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv543320	chr17:34246253-34442620	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv949160	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1062125	chr17:34266309-34442620	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv833427	chr17:34285285-34442620	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv1831753	chr17:34285285-34627742	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	esv1793798	chr17:34285285-34907282	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
12	esv1810659	chr17:34285285-34907282	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
13	esv1810804	chr17:34285285-34907282	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	esv1830012	chr17:34285285-34907282	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
15	esv1845538	chr17:34285285-34907282	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
16	esv1849179	chr17:34285285-34907282	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
17	esv2758450	chr17:34285285-34907282	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
18	nsv428340	chr17:34285285-34907282	Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
19	esv1829321	chr17:34285285-34921981	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
20	esv2758685	chr17:34285285-34921981	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
21	nsv1058029	chr17:34285312-34365313	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
22	nsv543321	chr17:34285312-34365313	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34295600-34302200	Enhancers	Liver	Liver
2	chr17:34295800-34299600	Enhancers	HepG2	liver
3	chr17:34296400-34297200	Enhancers	Fetal Kidney	kidney
4	chr17:34296600-34297000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr17:34296600-34297200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:34296600-34297400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr17:34296600-34299800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:34296800-34297000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:34296800-34297000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:34296800-34297000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr17:34296800-34297000	Enhancers	Lung	lung
12	chr17:34296800-34297000	Enhancers	Right Atrium	heart
13	chr17:34296800-34297000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr17:34296800-34297000	Enhancers	Spleen	Spleen
15	chr17:34296800-34297000	Enhancers	HUVEC	blood vessel
16	chr17:34296800-34297200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr17:34296800-34297200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:34296800-34297200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:34296800-34297200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr17:34296800-34297200	Enhancers	Adipose Nuclei	Adipose
21	chr17:34296800-34297200	Enhancers	Pancreas	Pancrea
22	chr17:34296800-34297200	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr17:34296800-34297200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr17:34296800-34297200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr17:34296800-34297400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr17:34296800-34297400	Enhancers	Duodenum Mucosa	Duodenum
27	chr17:34296800-34299400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:34296800-34302800	Enhancers	Fetal Intestine Large	intestine
29	chr17:34296800-34303400	Enhancers	Fetal Intestine Small	intestine

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