Variant report

Variant	rs72825932
Chromosome Location	chr17:33639632-33639633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr17:33639467-33640372	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr17:33639559-33640364	A549	lung:	n/a	n/a
3	RAD21	chr17:33639596-33640220	A549	lung:	n/a	n/a
4	GATA2	chr17:33639476-33640002	HUVEC	blood vessel:	n/a	chr17:33639689-33639703
5	SMC3	chr17:33639459-33640378	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr17:33639489-33640374	SK-N-SH	brain:	n/a	n/a
7	SMC3	chr17:33639513-33640780	GM12878	blood:	n/a	n/a
8	CTCF	chr17:33639516-33639649	K562	blood:	n/a	n/a
9	CTCF	chr17:33639630-33640163	HCT-116	colon:	n/a	n/a
10	RAD21	chr17:33639583-33640301	HCT-116	colon:	n/a	n/a
11	CTCF	chr17:33639629-33640230	HCT-116	colon:	n/a	n/a
12	RAD21	chr17:33639582-33640322	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr17:33639599-33640136	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:33639415..33640336-chr17:33860071..33860985,4	K562	blood:
2	chr17:33639164..33640312-chr17:33859981..33861014,10	MCF-7	breast:
3	chr17:33639516..33640351-chr17:33860065..33861379,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267364	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11651218	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654381	1.00[ASN][1000 genomes]
rs11657050	1.00[ASN][1000 genomes]
rs12949518	1.00[ASN][1000 genomes]
rs1838148	1.00[ASN][1000 genomes]
rs34658850	1.00[ASN][1000 genomes]
rs35077171	1.00[ASN][1000 genomes]
rs55990593	1.00[ASN][1000 genomes]
rs62078112	1.00[ASN][1000 genomes]
rs72825923	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825924	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825958	1.00[ASN][1000 genomes]
rs9898870	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh 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 miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv574741	chr17:33552275-33827134	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv457724	chr17:33609247-33691409	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv574742	chr17:33609247-33691409	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33638400-33640000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:33638600-33640000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr17:33639000-33639800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr17:33639200-33639800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr17:33639200-33639800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr17:33639400-33639800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr17:33639400-33639800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr17:33639400-33639800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:33639400-33639800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:33639400-33639800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr17:33639400-33639800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr17:33639400-33639800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:33639400-33639800	Enhancers	Fetal Thymus	thymus
14	chr17:33639400-33641000	Enhancers	Dnd41	blood
15	chr17:33639600-33639800	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr17:33639600-33639800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr17:33639600-33639800	Enhancers	Colon Smooth Muscle	Colon
18	chr17:33639600-33640000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr17:33639600-33640200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr17:33639600-33640600	Active TSS	Thymus	Thymus
21	chr17:33639600-33641600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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