Variant report

Variant	rs74087358
Chromosome Location	chr13:53190034-53190035
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	USF1	chr13:53190009-53190241	HepG2	liver:	n/a	chr13:53190159-53190170
2	USF1	chr13:53190003-53190241	SK-N-SH_RA	brain:	n/a	chr13:53190159-53190170
3	USF1	chr13:53190013-53190296	HepG2	liver:	n/a	chr13:53190159-53190170
4	USF1	chr13:53189982-53190237	H1-hESC	embryonic stem cell:	n/a	chr13:53190159-53190170
5	RCOR1	chr13:53189958-53190180	K562	blood:	n/a	n/a
6	ELF1	chr13:53189984-53190185	K562	blood:	n/a	n/a
7	USF1	chr13:53190004-53190300	ECC-1	luminal epithelium:	n/a	chr13:53190159-53190170
8	CEBPB	chr13:53189564-53190126	A549	lung:	n/a	chr13:53189741-53189752
9	USF1	chr13:53189907-53190283	HCT-116	colon:	n/a	chr13:53190159-53190170
10	CEBPB	chr13:53189556-53190152	HepG2	liver:	n/a	chr13:53189741-53189752
11	CUX1	chr13:53190014-53190062	GM12878	blood:	n/a	n/a
12	CTCF	chr13:53189980-53190130	BE2_C	brain:	n/a	n/a
13	RUNX3	chr13:53189973-53190237	GM12878	blood:	n/a	n/a
14	ATF3	chr13:53190031-53190175	K562	blood:	n/a	n/a
15	USF1	chr13:53189895-53190283	HCT-116	colon:	n/a	chr13:53190159-53190170
16	USF2	chr13:53189958-53190271	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr13:53190020-53190170	GM12864	blood:	n/a	n/a
18	CTCF	chr13:53189960-53190110	GM12878	blood:	n/a	n/a
19	USF2	chr13:53189977-53190296	GM12878	blood:	n/a	n/a
20	CTCF	chr13:53190014-53190067	K562	blood:	n/a	n/a
21	USF1	chr13:53189935-53190302	K562	blood:	n/a	chr13:53190159-53190170
22	CTCF	chr13:53190000-53190150	HepG2	liver:	n/a	n/a
23	POLR2A	chr13:53190008-53190408	Raji	blood:	n/a	n/a
24	USF1	chr13:53190004-53190311	SK-N-SH_RA	brain:	n/a	chr13:53190159-53190170
25	USF2	chr13:53189982-53190295	HepG2	liver:	n/a	n/a
26	CTCF	chr13:53190020-53190170	GM12875	blood:	n/a	n/a
27	USF1	chr13:53189956-53190241	A549	lung:	n/a	chr13:53190159-53190170
28	CTCF	chr13:53189940-53190090	HCT-116	colon:	n/a	n/a
29	USF1	chr13:53189948-53190244	A549	lung:	n/a	chr13:53190159-53190170
30	USF1	chr13:53189997-53190300	H1-hESC	embryonic stem cell:	n/a	chr13:53190159-53190170
31	USF1	chr13:53189968-53190247	ECC-1	luminal epithelium:	n/a	chr13:53190159-53190170

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53184666..53187320-chr13:53188643..53190811,2	K562	blood:
2	chr13:53189348..53193688-chr13:53225267..53228139,8	MCF-7	breast:

Variant related genes	Relation type
MRPS31P4	TF binding region
HNRNPA1L2	TF binding region
ENSG00000165416	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs55875061	0.81[AFR][1000 genomes]
rs56373931	0.81[AFR][1000 genomes]
rs56763074	0.81[AFR][1000 genomes]
rs57557507	0.81[AFR][1000 genomes]
rs60220067	0.81[AFR][1000 genomes]
rs61364393	0.96[AFR][1000 genomes]
rs74086009	0.81[AFR][1000 genomes]
rs74087355	0.80[AFR][1000 genomes]
rs74087361	0.96[AFR][1000 genomes]
rs74087365	0.96[AFR][1000 genomes]
rs74087370	0.96[AFR][1000 genomes]
rs74087371	0.96[AFR][1000 genomes]
rs74087372	0.96[AFR][1000 genomes]
rs74087373	0.96[AFR][1000 genomes]
rs74087375	0.96[AFR][1000 genomes]
rs74087384	0.88[AFR][1000 genomes]
rs74087401	0.81[AFR][1000 genomes]
rs74088603	0.81[AFR][1000 genomes]
rs74088607	0.81[AFR][1000 genomes]
rs74088612	0.81[AFR][1000 genomes]
rs74088617	0.81[AFR][1000 genomes]
rs74088619	0.81[AFR][1000 genomes]
rs74088623	0.81[AFR][1000 genomes]
rs74088624	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	esv1838257	chr13:52971893-53231454	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv900085	chr13:53022518-53216622	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv900086	chr13:53030565-53208030	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	14 gene(s)	inside rSNPs	diseases
6	nsv1038132	chr13:53057359-53190994	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv820041	chr13:53061338-53280588	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1044949	chr13:53071140-53289426	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv900087	chr13:53119704-53208030	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv819201	chr13:53137490-53240330	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv1044051	chr13:53139132-53287023	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1038942	chr13:53139132-53289426	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv1039911	chr13:53139132-53303074	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv1037189	chr13:53173013-53287060	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
15	nsv541775	chr13:53173013-53287060	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv1047265	chr13:53173013-53311419	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
17	nsv541776	chr13:53173013-53311419	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
18	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
19	nsv976119	chr13:53176029-53218496	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS 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	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53175000-53191000	Weak transcription	Fetal Stomach	stomach
2	chr13:53183600-53190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:53184400-53190800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr13:53189200-53191200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:53189600-53190800	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr13:53190000-53190200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr13:53190000-53190200	Enhancers	Brain Hippocampus Middle	brain
8	chr13:53190000-53190400	Enhancers	Gastric	stomach
9	chr13:53190000-53190600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr13:53190000-53190600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr13:53190000-53190600	Enhancers	Dnd41	blood
12	chr13:53190000-53190600	Enhancers	GM12878-XiMat	blood
13	chr13:53190000-53190800	Enhancers	Primary B cells from peripheral blood	blood
14	chr13:53190000-53190800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr13:53190000-53190800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr13:53190000-53190800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr13:53190000-53190800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr13:53190000-53190800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr13:53190000-53190800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:53190000-53190800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr13:53190000-53190800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:53190000-53190800	Enhancers	Thymus	Thymus
23	chr13:53190000-53190800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr13:53190000-53191000	Enhancers	Esophagus	oesophagus
25	chr13:53190000-53191000	Enhancers	HUVEC	blood vessel

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