Variant report

Variant	rs7957113
Chromosome Location	chr12:74686416-74686417
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:74686394-74686740	K562	blood:	n/a	n/a
2	CBX3	chr12:74686218-74687007	K562	blood:	n/a	n/a
3	GTF2F1	chr12:74686271-74686914	K562	blood:	n/a	n/a
4	YY1	chr12:74686222-74687030	K562	blood:	n/a	n/a
5	ZMIZ1	chr12:74686183-74687117	K562	blood:	n/a	n/a
6	MAX	chr12:74686273-74688035	K562	blood:	n/a	n/a
7	TEAD4	chr12:74686035-74687029	K562	blood:	n/a	n/a
8	POLR2A	chr12:74686028-74688121	K562	blood:	n/a	n/a
9	RCOR1	chr12:74686080-74687004	K562	blood:	n/a	n/a
10	EP300	chr12:74686338-74686626	GM12878	blood:	n/a	n/a
11	E2F6	chr12:74686316-74686577	K562	blood:	n/a	n/a
12	SP1	chr12:74686322-74686747	K562	blood:	n/a	n/a
13	ELF1	chr12:74685989-74686952	K562	blood:	n/a	n/a
14	ZNF384	chr12:74686210-74687040	K562	blood:	n/a	n/a
15	SP1	chr12:74686345-74686758	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr12:74685970-74687132	K562	blood:	n/a	n/a
17	CCNT2	chr12:74686228-74686909	K562	blood:	n/a	chr12:74686489-74686509
18	ZNF143	chr12:74686278-74686900	K562	blood:	n/a	n/a
19	POLR2A	chr12:74686102-74687130	K562	blood:	n/a	n/a
20	PML	chr12:74686140-74687062	K562	blood:	n/a	n/a
21	CTCF	chr12:74686287-74686725	K562	blood:	n/a	chr12:74686694-74686707
22	YY1	chr12:74686238-74686992	K562	blood:	n/a	n/a
23	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
24	ZBTB7A	chr12:74686156-74686529	K562	blood:	n/a	n/a
25	MAX	chr12:74686048-74686654	K562	blood:	n/a	n/a
26	POLR2A	chr12:74686190-74686981	K562	blood:	n/a	n/a
27	POLR2A	chr12:74685969-74687088	K562	blood:	n/a	n/a
28	GABPA	chr12:74685988-74687089	K562	blood:	n/a	n/a
29	NR2F2	chr12:74686292-74686995	K562	blood:	n/a	n/a
30	E2F6	chr12:74686105-74688198	K562	blood:	n/a	chr12:74686687-74686697 chr12:74688111-74688118
31	POLR2A	chr12:74686119-74687050	K562	blood:	n/a	n/a
32	TEAD4	chr12:74686256-74687110	K562	blood:	n/a	n/a
33	HEY1	chr12:74686123-74687026	K562	blood:	n/a	n/a
34	CUX1	chr12:74686395-74686762	K562	blood:	n/a	n/a
35	CEBPD	chr12:74686172-74686749	K562	blood:	n/a	n/a
36	POLR2A	chr12:74686001-74688169	K562	blood:	n/a	n/a
37	HMGN3	chr12:74686025-74686840	K562	blood:	n/a	n/a
38	MYC	chr12:74686021-74688231	K562	blood:	n/a	n/a
39	UBTF	chr12:74686014-74687038	K562	blood:	n/a	n/a
40	ZBTB7A	chr12:74686068-74686687	K562	blood:	n/a	n/a
41	POLR2A	chr12:74686048-74687069	K562	blood:	n/a	n/a
42	POLR2A	chr12:74686124-74687073	K562	blood:	n/a	n/a
43	RCOR1	chr12:74686183-74686755	K562	blood:	n/a	n/a
44	TRIM28	chr12:74686185-74686777	K562	blood:	n/a	n/a
45	TAF1	chr12:74686155-74687005	K562	blood:	n/a	n/a
46	IRF1	chr12:74686214-74687122	K562	blood:	n/a	n/a
47	CHD2	chr12:74686188-74686982	K562	blood:	n/a	n/a
48	ELK1	chr12:74686278-74686515	K562	blood:	n/a	n/a
49	STAT5A	chr12:74686232-74687021	K562	blood:	n/a	chr12:74686988-74687000
50	GTF2B	chr12:74686356-74686750	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:74686411-74686461	Hela-S3	cervix:	n/a
2	chr12:74686411-74686461	AoSMC	blood vessel:	n/a
3	chr12:74686411-74686461	HPAEpiC	pulmonary alveolar:	n/a
4	chr12:74686367-74686417	A549	lung:	n/a
5	chr12:74686411-74686461	BE2_C	brain:	n/a
6	chr12:74686367-74686417	NH-A	brain:	n/a
7	chr12:74686367-74686417	GM12892	blood:	n/a
8	chr12:74686411-74686461	AG04450	lung:	fetal
9	chr12:74686367-74686417	HEEpiC	esophagus:	n/a
10	chr12:74686411-74686461	GM12891	blood:	n/a
11	chr12:74686367-74686417	NHDF-neo	bronchial:	n/a
12	chr12:74686411-74686461	HRE	kidney:	n/a
13	chr12:74686411-74686461	Jurkat	blood:	n/a
14	chr12:74686411-74686461	GM12892	blood:	n/a
15	chr12:74686367-74686417	U87	brain:	n/a
16	chr12:74686411-74686461	SKMC	muscle:	n/a
17	chr12:74686411-74686461	MCF10A-Er-Src	breast:	n/a
18	chr12:74686411-74686461	U87	brain:	n/a
19	chr12:74686367-74686417	H1-hESC	embryonic stem cell:	embryo
20	chr12:74686411-74686461	Caco-2	colon:	n/a
21	chr12:74686367-74686417	SK-N-SH_RA	brain:	n/a
22	chr12:74686411-74686461	HCT-116	colon:	n/a
23	chr12:74686367-74686417	K562	blood:	n/a
24	chr12:74686411-74686461	NB4	blood:	n/a
25	chr12:74686411-74686461	SK-N-SH	brain:	n/a
26	chr12:74686367-74686417	PANC-1	pancreas:	n/a
27	chr12:74686367-74686417	RPTEC	kidney:	n/a
28	chr12:74686367-74686417	Caco-2	colon:	n/a
29	chr12:74686411-74686461	HRCEpiC	kidney:	n/a
30	chr12:74686367-74686417	SK-N-MC	brain:	n/a
31	chr12:74686411-74686461	K562	blood:	n/a
32	chr12:74686367-74686417	AG04449	skin:	fetal
33	chr12:74686367-74686417	GM12878	blood:	n/a
34	chr12:74686367-74686417	SAEC	small airway:	n/a
35	chr12:74686367-74686417	HMEC	breast:	n/a
36	chr12:74686367-74686417	HCF	heart:	n/a
37	chr12:74686367-74686417	HepG2	liver:	n/a
38	chr12:74686411-74686461	HL-60	blood:	n/a
39	chr12:74686367-74686417	NHBE	bronchial:	n/a
40	chr12:74686367-74686417	Hela-S3	cervix:	n/a
41	chr12:74686411-74686461	SK-N-SH_RA	brain:	n/a
42	chr12:74686367-74686417	HAEpiC	amniotic membrane:	n/a
43	chr12:74686367-74686417	ECC-1	luminal epithelium:	n/a
44	chr12:74686411-74686461	GM19239	blood:	n/a
45	chr12:74686411-74686461	NHBE	bronchial:	n/a
46	chr12:74686411-74686461	AG04449	skin:	fetal
47	chr12:74686411-74686461	ProgFib	skin:	n/a
48	chr12:74686411-74686461	NH-A	brain:	n/a
49	chr12:74686367-74686417	SK-N-SH	brain:	n/a
50	chr12:74686411-74686461	A549	lung:	n/a

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

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

No data

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

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10785098	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10879746	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11179975	0.89[AFR][1000 genomes]
rs11179993	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11180000	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11180003	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180004	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180009	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812724	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822779	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1987366	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886442	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096704	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35718850	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4601862	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs476891	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs510033	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs512585	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs559813	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56353885	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs635814	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638404	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6582212	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6582213	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs666685	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7133578	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7304698	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7306375	0.93[EUR][1000 genomes]
rs7953258	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7973416	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[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:7 , 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
5	chr12:74686200-74687000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:74686200-74688000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:74686400-74687800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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