Variant report

Variant	rs74137924
Chromosome Location	chr10:43187359-43187360
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:43186897-43187542	SK-N-SH	brain:	n/a	n/a
2	YY1	chr10:43186763-43187554	SK-N-SH_RA	brain:	n/a	n/a
3	TAF1	chr10:43186761-43187464	ECC-1	luminal epithelium:	n/a	n/a
4	YY1	chr10:43186711-43187442	SK-N-SH_RA	brain:	n/a	n/a
5	YY1	chr10:43186690-43187610	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr10:43186906-43187587	U87	brain:	n/a	n/a
7	MAX	chr10:43186915-43187535	SK-N-SH	brain:	n/a	n/a
8	NFYB	chr10:43187097-43187513	K562	blood:	n/a	n/a
9	YY1	chr10:43186888-43187385	ECC-1	luminal epithelium:	n/a	n/a
10	YY1	chr10:43186883-43187406	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr10:43186954-43187626	SK-N-SH	brain:	n/a	n/a
12	PBX3	chr10:43186915-43187410	SK-N-SH	brain:	n/a	n/a
13	TAF1	chr10:43186950-43187427	SK-N-SH	brain:	n/a	n/a
14	FOS	chr10:43187282-43187583	MCF10A-Er-Src	breast:	n/a	n/a
15	MAX	chr10:43186775-43187675	SK-N-SH	brain:	n/a	n/a
16	TAF1	chr10:43186903-43187525	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr10:43185547-43187555	SK-N-SH	brain:	n/a	chr10:43186347-43186360 chr10:43186191-43186209 chr10:43186193-43186214
18	MYC	chr10:43187325-43187430	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr10:43186867-43187634	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr10:43186911-43187633	ECC-1	luminal epithelium:	n/a	n/a
21	FOS	chr10:43187281-43187545	MCF10A-Er-Src	breast:	n/a	n/a
22	MAX	chr10:43186907-43187602	ECC-1	luminal epithelium:	n/a	n/a
23	SIN3AK20	chr10:43186883-43187562	SK-N-SH	brain:	n/a	n/a
24	YY1	chr10:43186366-43187599	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr10:43186943-43187542	U87	brain:	n/a	n/a
26	FOS	chr10:43187299-43187603	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr10:43187307-43187569	MCF10A-Er-Src	breast:	n/a	n/a
28	TAF1	chr10:43186828-43187601	ECC-1	luminal epithelium:	n/a	n/a
29	REST	chr10:43186933-43187475	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr10:43186770-43187565	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr10:43186900-43187528	U87	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43187321-43187371	SKMC	muscle:	n/a
2	chr10:43187321-43187371	AG04449	skin:	fetal
3	chr10:43187321-43187371	A549	lung:	n/a
4	chr10:43187321-43187371	SK-N-MC	brain:	n/a
5	chr10:43187321-43187371	CMK	blood:	n/a
6	chr10:43187321-43187371	Hela-S3	cervix:	n/a
7	chr10:43187321-43187371	HUVEC	blood vessel:	n/a
8	chr10:43187321-43187371	GM06990	blood:	n/a
9	chr10:43187321-43187371	AoSMC	blood vessel:	n/a
10	chr10:43187321-43187371	HepG2	liver:	n/a
11	chr10:43187321-43187371	NHDF-neo	bronchial:	n/a
12	chr10:43187321-43187371	HCF	heart:	n/a
13	chr10:43187321-43187371	GM19239	blood:	n/a
14	chr10:43187321-43187371	HCT-116	colon:	n/a
15	chr10:43187321-43187371	NH-A	brain:	n/a
16	chr10:43187321-43187371	ECC-1	luminal epithelium:	n/a
17	chr10:43187321-43187371	HL-60	blood:	n/a
18	chr10:43187321-43187371	PFSK-1	brain:	n/a
19	chr10:43187321-43187371	U87	brain:	n/a
20	chr10:43187321-43187371	SK-N-SH_RA	brain:	n/a
21	chr10:43187321-43187371	K562	blood:	n/a
22	chr10:43187321-43187371	BJ	skin:	n/a
23	chr10:43187321-43187371	ovcar-3	ovarian:	n/a
24	chr10:43187321-43187371	HEEpiC	esophagus:	n/a
25	chr10:43187321-43187371	LNCaP	prostate:	n/a
26	chr10:43187321-43187371	GM12878	blood:	n/a
27	chr10:43187321-43187371	AG09309	skin:	n/a
28	chr10:43187321-43187371	Hepatocyte	liver:	n/a
29	chr10:43187321-43187371	H1-hESC	embryonic stem cell:	embryo
30	chr10:43187321-43187371	PrEC	prostate:	n/a
31	chr10:43187321-43187371	HCPEpiC	choroid plexus:	n/a
32	chr10:43187321-43187371	SK-N-SH	brain:	n/a
33	chr10:43187321-43187371	PANC-1	pancreas:	n/a
34	chr10:43187321-43187371	NT2-D1	testis:	n/a
35	chr10:43187321-43187371	RPTEC	kidney:	n/a
36	chr10:43187321-43187371	Caco-2	colon:	n/a
37	chr10:43187321-43187371	NHBE	bronchial:	n/a
38	chr10:43187321-43187371	IMR90	lung:	fetal
39	chr10:43187321-43187371	Jurkat	blood:	n/a
40	chr10:43187321-43187371	AG09319	gingival:	n/a
41	chr10:43187321-43187371	HRCEpiC	kidney:	n/a
42	chr10:43187321-43187371	AG10803	skin:	n/a
43	chr10:43187321-43187371	HMEC	breast:	n/a
44	chr10:43187321-43187371	MCF10A-Er-Src	breast:	n/a
45	chr10:43187321-43187371	MCF-7	breast:	n/a
46	chr10:43187321-43187371	HAEpiC	amniotic membrane:	n/a
47	chr10:43187321-43187371	HRPEpiC	eye:	n/a
48	chr10:43187321-43187371	GM12891	blood:	n/a
49	chr10:43187321-43187371	AG04450	lung:	fetal
50	chr10:43187321-43187371	ProgFib	skin:	n/a

No data

Variant related genes	Relation type
ENSG00000234864	TF binding region
ENSG00000233515	TF binding region
ENSG00000234864	CpG island
ENSG00000233515	CpG island

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57232152	0.83[AFR][1000 genomes]
rs57694177	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58433458	0.83[AFR][1000 genomes]
rs60483347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137932	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv895064	chr10:42783481-43243325	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	esv2757381	chr10:43104068-43352995	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	esv34929	chr10:43116194-43329770	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	nsv1046582	chr10:43167074-43214053	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv2764213	chr10:43183225-43251704	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv947887	chr10:43183626-43224571	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv3333619	chr10:43185396-43188094	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43186200-43190400	Weak transcription	Pancreas	Pancrea
2	chr10:43187200-43187400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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