Variant report

Variant	rs2278189
Chromosome Location	chr12:74686831-74686832
allele	A/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	CBX3	chr12:74686218-74687007	K562	blood:	n/a	n/a
2	E2F6	chr12:74686682-74687012	K562	blood:	n/a	chr12:74686687-74686697
3	GTF2F1	chr12:74686271-74686914	K562	blood:	n/a	n/a
4	YY1	chr12:74686222-74687030	K562	blood:	n/a	n/a
5	ELF1	chr12:74686568-74686995	GM12878	blood:	n/a	n/a
6	ZMIZ1	chr12:74686183-74687117	K562	blood:	n/a	n/a
7	MAX	chr12:74686273-74688035	K562	blood:	n/a	n/a
8	TEAD4	chr12:74686035-74687029	K562	blood:	n/a	n/a
9	POLR2A	chr12:74686028-74688121	K562	blood:	n/a	n/a
10	RCOR1	chr12:74686080-74687004	K562	blood:	n/a	n/a
11	ELF1	chr12:74685989-74686952	K562	blood:	n/a	n/a
12	ZNF384	chr12:74686210-74687040	K562	blood:	n/a	n/a
13	RFX5	chr12:74686456-74686941	K562	blood:	n/a	n/a
14	MAX	chr12:74685970-74687132	K562	blood:	n/a	n/a
15	CCNT2	chr12:74686228-74686909	K562	blood:	n/a	chr12:74686489-74686509
16	ZNF143	chr12:74686278-74686900	K562	blood:	n/a	n/a
17	POLR2A	chr12:74686102-74687130	K562	blood:	n/a	n/a
18	MAX	chr12:74686662-74686988	K562	blood:	n/a	n/a
19	PML	chr12:74686140-74687062	K562	blood:	n/a	n/a
20	YY1	chr12:74686238-74686992	K562	blood:	n/a	n/a
21	MYC	chr12:74686737-74686937	K562	blood:	n/a	n/a
22	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
23	POLR2A	chr12:74686190-74686981	K562	blood:	n/a	n/a
24	POLR2A	chr12:74685969-74687088	K562	blood:	n/a	n/a
25	MAX	chr12:74686646-74687008	H1-hESC	embryonic stem cell:	n/a	n/a
26	GABPA	chr12:74685988-74687089	K562	blood:	n/a	n/a
27	NR2F2	chr12:74686292-74686995	K562	blood:	n/a	n/a
28	E2F6	chr12:74686105-74688198	K562	blood:	n/a	chr12:74686687-74686697 chr12:74688111-74688118
29	POLR2A	chr12:74686119-74687050	K562	blood:	n/a	n/a
30	TEAD4	chr12:74686256-74687110	K562	blood:	n/a	n/a
31	HEY1	chr12:74686123-74687026	K562	blood:	n/a	n/a
32	POLR2A	chr12:74686001-74688169	K562	blood:	n/a	n/a
33	HMGN3	chr12:74686025-74686840	K562	blood:	n/a	n/a
34	MYC	chr12:74686021-74688231	K562	blood:	n/a	n/a
35	UBTF	chr12:74686014-74687038	K562	blood:	n/a	n/a
36	REST	chr12:74686485-74687008	K562	blood:	n/a	n/a
37	POLR2A	chr12:74686048-74687069	K562	blood:	n/a	n/a
38	POLR2A	chr12:74686124-74687073	K562	blood:	n/a	n/a
39	TAF1	chr12:74686155-74687005	K562	blood:	n/a	n/a
40	IRF1	chr12:74686214-74687122	K562	blood:	n/a	n/a
41	CHD2	chr12:74686188-74686982	K562	blood:	n/a	n/a
42	STAT5A	chr12:74686232-74687021	K562	blood:	n/a	chr12:74686988-74687000
43	MXI1	chr12:74686680-74686925	K562	blood:	n/a	n/a
44	ETS1	chr12:74686041-74686947	K562	blood:	n/a	chr12:74686476-74686489 chr12:74686793-74686804 chr12:74686792-74686806
45	EGR1	chr12:74686785-74687080	K562	blood:	n/a	chr12:74687012-74687036 chr12:74686792-74686801
46	UBTF	chr12:74686041-74686994	K562	blood:	n/a	n/a
47	POLR2A	chr12:74686014-74687040	K562	blood:	n/a	n/a
48	JUND	chr12:74686080-74687952	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
49	MAZ	chr12:74686094-74687012	K562	blood:	n/a	n/a
50	MXI1	chr12:74686551-74686838	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:74685273..74687304-chrX:26574250..26577248,2	K562	blood:
2	chr12:74686465..74688529-chr12:74932040..74934610,2	K562	blood:
3	chr12:74683373..74686280-chr12:74686483..74688021,2	K562	blood:

Variant related genes	Relation type
ENSG00000251138	TF binding region
ENSG00000259849	Chromatin interaction
ENSG00000257364	Chromatin interaction
ENSG00000230265	Chromatin interaction
ENSG00000257386	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1019690	0.97[ASN][1000 genomes]
rs1019692	0.97[ASN][1000 genomes]
rs1019693	0.97[ASN][1000 genomes]
rs1019694	0.97[ASN][1000 genomes]
rs10879749	0.97[ASN][1000 genomes]
rs10879759	0.81[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs11180007	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11180015	0.97[ASN][1000 genomes]
rs11180027	0.95[ASN][1000 genomes]
rs11180036	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11180049	0.88[ASN][1000 genomes]
rs11180057	0.83[ASN][1000 genomes]
rs11180063	0.83[ASN][1000 genomes]
rs11829422	0.88[ASN][1000 genomes]
rs11836857	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12422910	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1346248	0.97[ASN][1000 genomes]
rs1365533	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1365534	0.97[ASN][1000 genomes]
rs1471296	0.83[ASN][1000 genomes]
rs17113126	0.86[JPT][hapmap]
rs17113127	0.88[JPT][hapmap]
rs17113224	0.94[ASN][1000 genomes]
rs17113335	0.97[ASN][1000 genomes]
rs1820497	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1834669	1.00[ASN][1000 genomes]
rs2012003	0.97[ASN][1000 genomes]
rs2012005	0.97[ASN][1000 genomes]
rs2162395	0.97[ASN][1000 genomes]
rs2169290	0.83[ASN][1000 genomes]
rs2364868	0.91[EUR][1000 genomes]
rs4883488	0.94[ASN][1000 genomes]
rs4883489	0.94[ASN][1000 genomes]
rs66472931	0.97[ASN][1000 genomes]
rs66504708	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66512760	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs66514235	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66661116	0.94[ASN][1000 genomes]
rs66756307	0.97[ASN][1000 genomes]
rs66955885	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs67027369	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67249120	0.97[ASN][1000 genomes]
rs67283194	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67436776	0.83[ASN][1000 genomes]
rs67452475	0.88[ASN][1000 genomes]
rs67619450	0.97[ASN][1000 genomes]
rs67630387	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67773463	0.97[ASN][1000 genomes]
rs68026423	0.97[ASN][1000 genomes]
rs68173977	0.97[ASN][1000 genomes]
rs72652864	0.97[ASN][1000 genomes]
rs72652865	0.97[ASN][1000 genomes]
rs7295476	1.00[ASN][1000 genomes]
rs7299438	0.88[ASN][1000 genomes]
rs7305709	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73182736	0.86[EUR][1000 genomes]
rs73182748	0.91[EUR][1000 genomes]
rs7398187	0.95[ASN][1000 genomes]
rs9788023	0.88[JPT][hapmap]
rs9788180	0.88[JPT][hapmap]

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:10 , 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	chr12:74685600-74688000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:74686000-74687600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:74686200-74687000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:74686200-74688000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:74686400-74687800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:74686600-74687000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:74686600-74687000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:74686600-74689000	Weak transcription	Right Atrium	heart
10	chr12:74686800-74688000	Flanking Active TSS	K562	blood

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