Variant report

Variant	rs10879746
Chromosome Location	chr12:74686076-74686077
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	TEAD4	chr12:74686035-74687029	K562	blood:	n/a	n/a
2	POLR2A	chr12:74686028-74688121	K562	blood:	n/a	n/a
3	E2F6	chr12:74686033-74686298	K562	blood:	n/a	n/a
4	ELF1	chr12:74685989-74686952	K562	blood:	n/a	n/a
5	MAX	chr12:74685970-74687132	K562	blood:	n/a	n/a
6	JUN	chr12:74685969-74687943	K562	blood:	n/a	chr12:74687564-74687572 chr12:74686993-74687004 chr12:74686577-74686587 chr12:74686576-74686588 chr12:74686577-74686587 chr12:74687084-74687093 chr12:74687564-74687571 chr12:74686578-74686586 chr12:74686577-74686587
7	MAX	chr12:74686048-74686654	K562	blood:	n/a	n/a
8	POLR2A	chr12:74685969-74687088	K562	blood:	n/a	n/a
9	GABPA	chr12:74685988-74687089	K562	blood:	n/a	n/a
10	POLR2A	chr12:74686001-74688169	K562	blood:	n/a	n/a
11	HMGN3	chr12:74686025-74686840	K562	blood:	n/a	n/a
12	MYC	chr12:74686021-74688231	K562	blood:	n/a	n/a
13	UBTF	chr12:74686014-74687038	K562	blood:	n/a	n/a
14	ZBTB7A	chr12:74686068-74686687	K562	blood:	n/a	n/a
15	POLR2A	chr12:74686048-74687069	K562	blood:	n/a	n/a
16	ETS1	chr12:74686041-74686947	K562	blood:	n/a	chr12:74686476-74686489 chr12:74686793-74686804 chr12:74686792-74686806
17	UBTF	chr12:74686041-74686994	K562	blood:	n/a	n/a
18	POLR2A	chr12:74686014-74687040	K562	blood:	n/a	n/a
19	SIN3AK20	chr12:74686050-74686868	K562	blood:	n/a	n/a
20	POLR2A	chr12:74686038-74688136	K562	blood:	n/a	n/a
21	NR2F2	chr12:74686068-74687069	K562	blood:	n/a	n/a
22	TAF1	chr12:74686029-74687042	K562	blood:	n/a	n/a
23	POLR2A	chr12:74686070-74687093	Gliobla	brain:	n/a	n/a
24	HEY1	chr12:74686000-74687046	K562	blood:	n/a	n/a
25	TBP	chr12:74686037-74688100	K562	blood:	n/a	n/a
26	POLR2A	chr12:74686073-74688271	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:74685273..74687304-chrX:26574250..26577248,2	K562	blood:
2	chr12:74683373..74686280-chr12:74686483..74688021,2	K562	blood:

Variant related genes	Relation type
ENSG00000257364	TF binding region
ENSG00000259849	Chromatin interaction
ENSG00000251138	Chromatin interaction
ENSG00000230265	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10785098	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11179993	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180000	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11180003	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11180004	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11180009	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12812724	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12822779	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1987366	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2886442	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3096704	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35718850	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4601862	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs476891	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs510033	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs512585	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs559813	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56353885	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs635814	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs638404	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6582212	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6582213	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs666685	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7133578	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7304698	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7306375	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7953258	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7957113	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7973416	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1047574	chr12:74599663-74687663	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv469472	chr12:74651797-74690292	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv559411	chr12:74651797-74690292	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv899290	chr12:74666737-74729489	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv899291	chr12:74666737-74740958	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1051702	chr12:74674733-74732069	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv469473	chr12:74676381-74712896	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv559412	chr12:74676381-74712896	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv428595	chr12:74679884-74858160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv523765	chr12:74680999-74749476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74681400-74690800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:74684800-74686800	Active TSS	K562	blood
3	chr12:74685600-74688000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:74686000-74687600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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