Variant report

Variant	rs12114624
Chromosome Location	chr8:103513523-103513524
allele	C/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	GATA1	chr8:103513513-103513713	PBDEFetal	blood:	n/a	chr8:103513589-103513605 chr8:103513593-103513602
2	GABPA	chr8:103513432-103513763	K562	blood:	n/a	n/a
3	POLR2A	chr8:103513404-103513728	K562	blood:	n/a	n/a
4	ATF1	chr8:103513411-103513751	K562	blood:	n/a	n/a
5	CBX3	chr8:103513286-103513807	K562	blood:	n/a	n/a
6	HDAC2	chr8:103513444-103513837	K562	blood:	n/a	n/a
7	MYC	chr8:103513466-103513733	K562	blood:	n/a	n/a
8	CEBPD	chr8:103513387-103513901	K562	blood:	n/a	n/a
9	MYC	chr8:103513314-103513754	K562	blood:	n/a	n/a
10	TEAD4	chr8:103513301-103513863	K562	blood:	n/a	n/a
11	ZMIZ1	chr8:103513443-103513790	K562	blood:	n/a	n/a
12	NR2F2	chr8:103513337-103514084	K562	blood:	n/a	n/a
13	MAZ	chr8:103513473-103513793	K562	blood:	n/a	n/a
14	EP300	chr8:103513437-103513819	K562	blood:	n/a	n/a
15	BHLHE40	chr8:103513428-103513822	K562	blood:	n/a	n/a
16	GATA1	chr8:103513224-103513933	K562	blood:	n/a	chr8:103513589-103513605 chr8:103513593-103513602
17	POLR2A	chr8:103513457-103513738	K562	blood:	n/a	n/a
18	POLR2A	chr8:103513509-103513777	K562	blood:	n/a	n/a
19	GABPA	chr8:103513445-103513730	K562	blood:	n/a	n/a
20	TBL1XR1	chr8:103513436-103513772	K562	blood:	n/a	n/a
21	TAL1	chr8:103513331-103513849	K562	blood:	n/a	n/a
22	POLR2A	chr8:103513441-103513730	K562	blood:	n/a	n/a
23	RCOR1	chr8:103513354-103513829	K562	blood:	n/a	n/a
24	TBL1XR1	chr8:103513512-103513724	K562	blood:	n/a	n/a
25	EGR1	chr8:103513466-103513790	K562	blood:	n/a	n/a
26	GATA2	chr8:103513386-103513791	K562	blood:	n/a	chr8:103513589-103513605 chr8:103513593-103513602
27	TRIM28	chr8:103513301-103513802	K562	blood:	n/a	n/a
28	PML	chr8:103513374-103513813	K562	blood:	n/a	n/a
29	STAT5A	chr8:103513385-103513767	K562	blood:	n/a	n/a
30	PML	chr8:103513342-103513819	K562	blood:	n/a	n/a
31	CEBPB	chr8:103513415-103513813	K562	blood:	n/a	n/a
32	GATA1	chr8:103513491-103513783	K562	blood:	n/a	chr8:103513589-103513605 chr8:103513593-103513602
33	CEBPD	chr8:103513303-103513873	K562	blood:	n/a	n/a
34	GATA2	chr8:103513378-103513794	K562	blood:	n/a	chr8:103513589-103513605 chr8:103513593-103513602
35	MXI1	chr8:103513378-103513724	K562	blood:	n/a	n/a
36	GATA2	chr8:103513361-103513821	K562	blood:	n/a	chr8:103513589-103513605 chr8:103513593-103513602
37	CEBPB	chr8:103513442-103513823	K562	blood:	n/a	n/a
38	JUND	chr8:103513378-103513755	K562	blood:	n/a	n/a
39	STAT5A	chr8:103513324-103513837	K562	blood:	n/a	n/a
40	RCOR1	chr8:103513373-103513783	K562	blood:	n/a	n/a
41	NR2F2	chr8:103513355-103513856	K562	blood:	n/a	n/a
42	MAX	chr8:103513402-103513734	K562	blood:	n/a	n/a
43	TEAD4	chr8:103513346-103513822	K562	blood:	n/a	n/a
44	CUX1	chr8:103513389-103513675	K562	blood:	n/a	n/a
45	HMGN3	chr8:103513519-103513644	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103502255..103505125-chr8:103511782..103514239,2	MCF-7	breast:
2	chr8:103511270..103514010-chr8:103514505..103517233,2	MCF-7	breast:

Variant related genes	Relation type
RPS12P15	TF binding region
ENSG00000240724	Chromatin interaction

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

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

rs_ID	r²[population]
rs1106868	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12114119	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114692	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114776	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114928	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869476	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869480	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs2002177	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2217750	0.82[EUR][1000 genomes]
rs28439349	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28521035	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4317537	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs60137499	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524798	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524800	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524801	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524802	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524803	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524812	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524813	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524815	0.84[EUR][1000 genomes]
rs62524816	0.84[EUR][1000 genomes]
rs62524817	0.83[EUR][1000 genomes]
rs62524820	0.85[EUR][1000 genomes]
rs7005430	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006028	0.84[AFR][1000 genomes]
rs7820694	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820920	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838902	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872901	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
4	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1831575	chr8:103498317-103585093	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1838972	chr8:103498317-103585093	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1024876	chr8:103512785-103576658	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103502800-103529800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:103503000-103517400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:103508800-103514600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:103508800-103517400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:103509000-103517400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:103510000-103516000	Weak transcription	Pancreas	Pancrea
7	chr8:103513200-103513800	Enhancers	HepG2	liver
8	chr8:103513200-103513800	Enhancers	K562	blood

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