Variant report

Variant	rs847917
Chromosome Location	chr7:12533158-12533159
allele	C/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	POLR2A	chr7:12533056-12533357	K562	blood:	n/a	n/a
2	ZMIZ1	chr7:12533146-12533413	K562	blood:	n/a	n/a
3	TEAD4	chr7:12532963-12533543	K562	blood:	n/a	n/a
4	NR2F2	chr7:12533037-12533478	K562	blood:	n/a	n/a
5	GATA1	chr7:12532936-12534109	K562	blood:	n/a	chr7:12533779-12533789 chr7:12534086-12534097
6	MAFK	chr7:12533084-12533179	HepG2	liver:	n/a	chr7:12533121-12533136
7	MAFK	chr7:12532949-12533306	K562	blood:	n/a	chr7:12533121-12533136
8	MAFF	chr7:12533077-12533214	HepG2	liver:	n/a	n/a
9	PML	chr7:12533001-12533551	K562	blood:	n/a	n/a
10	MAFK	chr7:12532979-12533287	HepG2	liver:	n/a	chr7:12533121-12533136
11	MAFF	chr7:12532945-12533318	K562	blood:	n/a	n/a
12	RCOR1	chr7:12532996-12533513	K562	blood:	n/a	n/a
13	IRF1	chr7:12532984-12533280	K562	blood:	n/a	n/a
14	ARID3A	chr7:12533106-12533341	K562	blood:	n/a	n/a
15	JUND	chr7:12533116-12533347	K562	blood:	n/a	n/a
16	TBL1XR1	chr7:12533109-12533419	K562	blood:	n/a	n/a
17	RCOR1	chr7:12533157-12533359	K562	blood:	n/a	n/a
18	STAT5A	chr7:12532968-12533546	K562	blood:	n/a	n/a
19	BHLHE40	chr7:12533085-12533378	K562	blood:	n/a	n/a
20	GATA2	chr7:12532980-12533532	K562	blood:	n/a	n/a
21	TAL1	chr7:12533034-12533521	K562	blood:	n/a	n/a
22	MAFK	chr7:12532974-12533292	H1-hESC	embryonic stem cell:	n/a	chr7:12533121-12533136
23	CCNT2	chr7:12533047-12533307	K562	blood:	n/a	n/a
24	TRIM28	chr7:12533037-12533388	K562	blood:	n/a	n/a
25	CEBPD	chr7:12532996-12533568	K562	blood:	n/a	n/a
26	CUX1	chr7:12533097-12533294	K562	blood:	n/a	n/a
27	BACH1	chr7:12532972-12533274	K562	blood:	n/a	n/a
28	BACH1	chr7:12532994-12533280	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr7:12533125-12533486	K562	blood:	n/a	n/a
30	TEAD4	chr7:12532942-12533584	K562	blood:	n/a	chr7:12532956-12532965
31	EP300	chr7:12533071-12533483	K562	blood:	n/a	n/a
32	MYC	chr7:12533094-12533339	K562	blood:	n/a	n/a
33	MAFK	chr7:12533099-12533223	Hela-S3	cervix:	n/a	chr7:12533121-12533136
34	MAFK	chr7:12532953-12533305	IMR90	lung:	n/a	chr7:12533121-12533136
35	MAX	chr7:12533075-12533198	K562	blood:	n/a	n/a
36	NR2F2	chr7:12532970-12533463	K562	blood:	n/a	n/a
37	GATA1	chr7:12532707-12533607	PBDE	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000226690	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10499426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12669079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1638288	1.00[YRI][hapmap]
rs17192277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17278049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7787895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7788605	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7792086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs847916	0.82[CHB][hapmap]
rs847919	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847920	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847922	1.00[YRI][hapmap]
rs847924	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847926	0.88[CHB][hapmap]
rs847936	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847937	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847938	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847940	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847941	0.95[AMR][1000 genomes]
rs847942	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs847944	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847945	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847947	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs847955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847958	0.90[ASN][1000 genomes]
rs847959	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs847961	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs848021	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs848022	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv464373	chr7:12406826-12536336	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv606224	chr7:12406826-12536336	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv2757212	chr7:12505613-12596535	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2759511	chr7:12505613-12596535	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1017055	chr7:12509227-12553217	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv464377	chr7:12512802-12564128	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv606228	chr7:12512802-12564128	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv8048	chr7:12514460-12564736	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv3692921	chr7:12515906-12564128	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv464378	chr7:12516170-12562500	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv606229	chr7:12516170-12562500	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv519965	chr7:12516170-12564128	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv470055	chr7:12516170-12564128	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv606230	chr7:12516170-12564128	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv818482	chr7:12516170-12564128	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1028361	chr7:12517477-12548420	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv1027185	chr7:12517477-12549015	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv1022047	chr7:12517477-12552147	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv1027708	chr7:12517477-12558257	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	esv2761074	chr7:12517477-12566200	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv887640	chr7:12519212-12543794	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv1021371	chr7:12530491-12710429	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
27	nsv1030764	chr7:12532287-12710429	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12529600-12536600	Weak transcription	K562	blood
2	chr7:12530400-12536600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:12530600-12536600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:12530800-12536600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:12531000-12536200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:12533000-12534000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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