Variant report

Variant	rs8030169
Chromosome Location	chr15:44013177-44013178
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	STAT3	chr15:44012948-44013259	MCF10A-Er-Src	breast:	n/a	chr15:44013090-44013101
2	STAT3	chr15:44012949-44013263	MCF10A-Er-Src	breast:	n/a	chr15:44013090-44013101
3	FOS	chr15:44013038-44013261	MCF10A-Er-Src	breast:	n/a	chr15:44013040-44013052
4	MYC	chr15:44013032-44013232	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr15:44013000-44013260	MCF10A-Er-Src	breast:	n/a	chr15:44013090-44013101
6	CEBPB	chr15:44013009-44013290	K562	blood:	n/a	chr15:44013128-44013139
7	BCL3	chr15:44013070-44013288	GM12878	blood:	n/a	n/a
8	CEBPB	chr15:44013072-44013307	A549	lung:	n/a	chr15:44013128-44013139
9	CEBPB	chr15:44013006-44013314	HepG2	liver:	n/a	chr15:44013128-44013139
10	STAT3	chr15:44012994-44013260	MCF10A-Er-Src	breast:	n/a	chr15:44013090-44013101
11	CEBPB	chr15:44013108-44013199	IMR90	lung:	n/a	chr15:44013128-44013139

No.	Distal block	Cell Line	Cell type
1	15:44001645-44015047..15:44080886-44089111	Hela-S3	cervix:
2	15:43782117-43785993..15:44001645-44015047	GM12878	blood:
3	15:43802874-43806906..15:44001645-44015047	Hela-S3	cervix:
4	15:43807815-43812531..15:44001645-44015047	Hela-S3	cervix:
5	15:43889977-43895899..15:44001645-44015047	GM12878	blood:
6	15:43924442-43930824..15:44001645-44015047	GM12878	blood:
7	15:43792489-43802874..15:44001645-44015047	GM12878	blood:

Variant related genes	Relation type
STRC	TF binding region
STRCP1	TF binding region
ENSG00000067369	Chromatin interaction
ENSG00000221792	Chromatin interaction
ENSG00000166963	Chromatin interaction
ENSG00000222398	Chromatin interaction
ENSG00000242028	Chromatin interaction
ENSG00000242866	Chromatin interaction
ENSG00000206991	Chromatin interaction
ENSG00000140264	Chromatin interaction
ENSG00000166762	Chromatin interaction
ENSG00000237289	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10163054	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10438303	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11070407	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11070408	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11070410	0.82[ASN][1000 genomes]
rs11852840	0.82[ASN][1000 genomes]
rs12101756	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12437808	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12441127	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12441861	0.82[ASN][1000 genomes]
rs12442129	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13380397	0.81[ASN][1000 genomes]
rs16950562	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16963953	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2412810	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2467402	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2788	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28433760	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28502289	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28504496	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28542007	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28578041	0.91[ASN][1000 genomes]
rs28578398	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28595038	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28678901	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28718261	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28891769	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35457073	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4332723	0.96[ASN][1000 genomes]
rs4997480	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs60883262	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62018952	0.81[ASN][1000 genomes]
rs7167976	0.84[AFR][1000 genomes]
rs7168158	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7170167	0.80[ASN][1000 genomes]
rs7171750	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7174208	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7174732	0.90[ASN][1000 genomes]
rs7175032	0.82[ASN][1000 genomes]
rs7175129	0.96[ASN][1000 genomes]
rs72714307	0.82[AMR][1000 genomes]
rs8023696	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8029210	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8033846	0.87[ASN][1000 genomes]
rs8033995	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats 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	101 gene(s)	inside rSNPs	diseases
2	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS 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	84 gene(s)	inside rSNPs	diseases
5	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	esv2757598	chr15:43831923-44058634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2761766	chr15:43834318-44014255	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv904150	chr15:43836478-44040965	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv2760393	chr15:43845422-44024490	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv904157	chr15:43852043-44019592	Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv904158	chr15:43852043-44053617	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv904163	chr15:43873489-44023963	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers 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	90 gene(s)	inside rSNPs	diseases
14	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
15	nsv1054620	chr15:43893072-44014139	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv904171	chr15:43895643-44016417	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv869676	chr15:43895704-44016490	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	nsv1048538	chr15:43914737-44014139	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	nsv1038991	chr15:43914737-44024490	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
20	nsv1036148	chr15:43929339-44014139	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
21	nsv1047213	chr15:43929339-44024490	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
22	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
23	nsv976928	chr15:43948866-44040886	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
24	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs8030169	ADAL	cis	Thyroid	GTEx
rs8030169	ADAL	cis	lung	GTEx
rs8030169	AC011330.5	cis	Esophagus Mucosa	GTEx
rs8030169	CATSPER2	cis	Esophagus Mucosa	GTEx
rs8030169	ADAL	cis	Artery Tibial	GTEx
rs8030169	ADAL	cis	Esophagus Muscularis	GTEx
rs8030169	CKMT1A	cis	Esophagus Mucosa	GTEx
rs8030169	CATSPER2	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44013000-44013200	Enhancers	HMEC	breast
2	chr15:44013000-44014200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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