Variant report

Variant	rs73325540
Chromosome Location	chr7:19162006-19162007
allele	A/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	RAD21	chr7:19161619-19162011	Hela-S3	cervix:	n/a	n/a
2	SMC3	chr7:19161617-19162011	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr7:19161593-19162032	IMR90	lung:	n/a	n/a
4	RAD21	chr7:19161511-19162138	HCT-116	colon:	n/a	n/a
5	E2F4	chr7:19161663-19162096	MCF10A-Er-Src	breast:	n/a	n/a
6	RAD21	chr7:19161553-19162013	HCT-116	colon:	n/a	n/a
7	MXI1	chr7:19143470-19162161	SK-N-SH	brain:	n/a	chr7:19158827-19158836 chr7:19158829-19158838 chr7:19158827-19158836
8	RAD21	chr7:19161602-19162017	SK-N-SH_RA	brain:	n/a	n/a
9	RAD21	chr7:19161564-19162094	A549	lung:	n/a	n/a
10	CTCF	chr7:19161920-19162070	HL-60	blood:	n/a	n/a
11	RAD21	chr7:19161536-19162009	H1-hESC	embryonic stem cell:	n/a	n/a
12	SMC3	chr7:19161195-19162158	SK-N-SH	brain:	n/a	n/a
13	RAD21	chr7:19161577-19162062	ECC-1	luminal epithelium:	n/a	n/a
14	RAD21	chr7:19157780-19162195	SK-N-SH	brain:	n/a	chr7:19158102-19158121 chr7:19158107-19158119
15	RAD21	chr7:19161649-19162092	A549	lung:	n/a	n/a
16	CTCF	chr7:19161526-19162015	A549	lung:	n/a	n/a
17	RAD21	chr7:19161629-19162033	MCF-7	breast:	n/a	n/a
18	RAD21	chr7:19161645-19162044	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr7:19161501-19162045	HCT-116	colon:	n/a	n/a
20	RAD21	chr7:19161580-19162015	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr7:19161847-19162022	MCF10A-Er-Src	breast:	n/a	n/a
22	RAD21	chr7:19161585-19162085	ECC-1	luminal epithelium:	n/a	n/a
23	RAD21	chr7:19161576-19162017	IMR90	lung:	n/a	n/a
24	CTCF	chr7:19161365-19162149	A549	lung:	n/a	n/a
25	CTCF	chr7:19161131-19162646	SK-N-SH	brain:	n/a	n/a
26	RAD21	chr7:19161614-19162112	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:19161360..19162323-chr7:19704757..19705725,5	MCF-7	breast:
2	chr7:19161356..19162289-chr7:19481424..19482541,6	MCF-7	breast:
3	chr7:19161315..19162333-chr7:19661177..19662063,3	MCF-7	breast:

Variant related genes	Relation type
TWIST1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11979718	0.82[ASN][1000 genomes]
rs3801990	0.96[ASN][1000 genomes]
rs3801991	0.96[ASN][1000 genomes]
rs73325543	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	nsv531020	chr7:18971153-19261019	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv532096	chr7:19094324-19361216	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv532097	chr7:19105767-19302951	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538767	chr7:19150355-19163170	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1028132	chr7:19150355-19172107	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv538768	chr7:19150355-19172107	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv538771	chr7:19151576-19162140	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
8	nsv538774	chr7:19152455-19162140	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
9	nsv538775	chr7:19152934-19162079	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	nsv1023268	chr7:19152934-19172246	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	nsv538776	chr7:19152934-19172246	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
12	nsv538780	chr7:19153407-19163309	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
13	nsv538782	chr7:19153408-19163310	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	nsv1034825	chr7:19153408-19172247	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
15	nsv538783	chr7:19153408-19172247	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
16	nsv538785	chr7:19153607-19163170	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19159400-19162200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr7:19162000-19163200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:19162000-19163400	Enhancers	HUES48 Cell Line	embryonic stem cell

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