Variant report

Variant	rs7777285
Chromosome Location	chr7:57271239-57271240
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	YY1	chr7:57271217-57271566	K562	blood:	n/a	chr7:57271414-57271422 chr7:57271455-57271469 chr7:57271411-57271433 chr7:57271448-57271459
2	BHLHE40	chr7:57271222-57271447	K562	blood:	n/a	chr7:57271386-57271395 chr7:57271384-57271397 chr7:57271386-57271395 chr7:57271385-57271394 chr7:57271380-57271401
3	CCNT2	chr7:57271046-57271518	K562	blood:	n/a	n/a
4	YY1	chr7:57271227-57271518	SK-N-SH_RA	brain:	n/a	chr7:57271414-57271422 chr7:57271455-57271469 chr7:57271411-57271433 chr7:57271448-57271459
5	YY1	chr7:57271204-57271553	GM12892	blood:	n/a	chr7:57271414-57271422 chr7:57271455-57271469 chr7:57271411-57271433 chr7:57271448-57271459
6	YY1	chr7:57271230-57271516	K562	blood:	n/a	chr7:57271414-57271422 chr7:57271455-57271469 chr7:57271411-57271433 chr7:57271448-57271459
7	YY1	chr7:57271219-57271550	ECC-1	luminal epithelium:	n/a	chr7:57271414-57271422 chr7:57271455-57271469 chr7:57271411-57271433 chr7:57271448-57271459
8	HCFC1	chr7:57271212-57271543	K562	blood:	n/a	n/a
9	USF1	chr7:57271222-57271551	ECC-1	luminal epithelium:	n/a	chr7:57271386-57271395 chr7:57271384-57271397 chr7:57271386-57271395 chr7:57271455-57271471 chr7:57271385-57271394 chr7:57271380-57271401
10	USF1	chr7:57271216-57271547	K562	blood:	n/a	chr7:57271386-57271395 chr7:57271384-57271397 chr7:57271386-57271395 chr7:57271455-57271471 chr7:57271385-57271394 chr7:57271380-57271401
11	USF2	chr7:57271213-57271529	K562	blood:	n/a	chr7:57271386-57271395 chr7:57271384-57271397 chr7:57271386-57271395 chr7:57271455-57271471 chr7:57271385-57271394 chr7:57271380-57271401

Variant related genes	Relation type
GUSBP12	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10227747	0.91[CHB][hapmap]
rs10231669	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12113377	1.00[CHB][hapmap]
rs13247291	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28439086	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34071178	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66815403	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7777907	0.84[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs7789755	0.84[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022563	chr7:56383876-57318888	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1020833	chr7:56511848-57323499	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
3	nsv538865	chr7:56511848-57323499	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
4	nsv1017561	chr7:56512618-57334136	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
5	nsv1033128	chr7:56787535-57493216	ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1016541	chr7:56823372-57806010	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
7	nsv1031261	chr7:56949355-57601047	Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	nsv1029803	chr7:57007829-57601047	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
9	nsv1019165	chr7:57065348-57659814	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1032599	chr7:57065348-57667279	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
11	nsv888071	chr7:57190580-57342226	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv607046	chr7:57190580-57493216	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
13	nsv607047	chr7:57190580-57608901	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
14	nsv607048	chr7:57190580-58018981	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
15	esv2761119	chr7:57190580-58019970	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
16	nsv1031756	chr7:57197811-57667279	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
17	nsv464484	chr7:57208666-57589803	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
18	nsv607049	chr7:57208666-57589803	Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
19	nsv520659	chr7:57208666-57868103	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
20	nsv1020026	chr7:57212585-57626147	ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
21	nsv538866	chr7:57212585-57626147	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
22	nsv1021925	chr7:57212785-57493216	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
23	nsv1027618	chr7:57212785-57493216	Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
24	nsv538867	chr7:57212785-57493216	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
25	nsv538868	chr7:57212785-57493216	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
26	nsv1017873	chr7:57244029-57882330	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
27	nsv1030369	chr7:57246268-57493216	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
28	nsv538869	chr7:57246268-57493216	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
29	nsv1018512	chr7:57253403-57855404	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
30	nsv538870	chr7:57253403-57855404	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
31	nsv1017499	chr7:57253403-57886151	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
32	nsv538871	chr7:57253403-57886151	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
33	nsv607050	chr7:57254647-57589803	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
34	nsv1029476	chr7:57260920-58019983	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
35	nsv971010	chr7:57266304-57291112	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7777285	ZNF716	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57267400-57274400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:57268000-57272600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:57268400-57272400	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr7:57269400-57274000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:57270800-57271400	Active TSS	Brain Angular Gyrus	brain
6	chr7:57270800-57271600	ZNF genes & repeats	Spleen	Spleen
7	chr7:57270800-57272000	Active TSS	Brain Substantia Nigra	brain
8	chr7:57271000-57272000	Active TSS	Brain Hippocampus Middle	brain
9	chr7:57271200-57271800	ZNF genes & repeats	Brain Anterior Caudate	brain
10	chr7:57271200-57271800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland

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