Variant report

Variant	rs576576
Chromosome Location	chr9:15357259-15357260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:99)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:99 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr9:15357013-15357323	NB4	blood:	n/a	n/a
2	CTCF	chr9:15357106-15357298	GM12878	blood:	n/a	n/a
3	CTCF	chr9:15357029-15357414	T-47D	breast:	n/a	n/a
4	CTCF	chr9:15357140-15357290	GM12872	blood:	n/a	n/a
5	RAD21	chr9:15357046-15357324	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr9:15357160-15357310	GM12874	blood:	n/a	n/a
7	CTCF	chr9:15357120-15357270	RPTEC	kidney:	n/a	n/a
8	ZNF143	chr9:15357121-15357292	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr9:15357070-15357340	Spleen_OC	spleen:	n/a	n/a
10	CEBPB	chr9:15357101-15357410	A549	lung:	n/a	chr9:15357245-15357256
11	CTCF	chr9:15356947-15357531	MCF-7	breast:	n/a	n/a
12	CTCF	chr9:15357160-15357310	GM12865	blood:	n/a	n/a
13	CTCF	chr9:15357144-15357314	GM20000	blood:	n/a	n/a
14	CEBPB	chr9:15357063-15357424	HepG2	liver:	n/a	chr9:15357245-15357256
15	CTCF	chr9:15357160-15357310	GM12873	blood:	n/a	n/a
16	CTCF	chr9:15357064-15357283	A549	lung:	n/a	n/a
17	CTCF	chr9:15357109-15357288	GM19239	blood:	n/a	n/a
18	CTCF	chr9:15357140-15357290	GM12873	blood:	n/a	n/a
19	CTCF	chr9:15357180-15357330	NHDF-neo	bronchial:	n/a	n/a
20	CTCF	chr9:15357140-15357290	GM12875	blood:	n/a	n/a
21	CTCF	chr9:15357075-15357349	MCF-7	breast:	n/a	n/a
22	SPI1	chr9:15356961-15357266	GM12891	blood:	n/a	n/a
23	CEBPB	chr9:15357103-15357439	MCF-7	breast:	n/a	chr9:15357245-15357256
24	CTCF	chr9:15357120-15357270	GM12871	blood:	n/a	n/a
25	CTCF	chr9:15357180-15357330	GM12875	blood:	n/a	n/a
26	CTCF	chr9:15357160-15357310	GM12864	blood:	n/a	n/a
27	CTCF	chr9:15357085-15357309	GM12891	blood:	n/a	n/a
28	ZNF384	chr9:15356967-15357331	GM12878	blood:	n/a	n/a
29	CTCF	chr9:15357120-15357270	HepG2	liver:	n/a	n/a
30	CEBPB	chr9:15357115-15357292	HepG2	liver:	n/a	chr9:15357245-15357256
31	CTCF	chr9:15357180-15357330	GM12873	blood:	n/a	n/a
32	CTCF	chr9:15357079-15357315	MCF-7	breast:	n/a	n/a
33	CTCF	chr9:15357077-15357309	MCF-7	breast:	n/a	n/a
34	CEBPB	chr9:15357066-15357440	HepG2	liver:	n/a	chr9:15357245-15357256
35	CTCF	chr9:15357140-15357290	GM06990	blood:	n/a	n/a
36	RAD21	chr9:15357114-15357263	GM12878	blood:	n/a	n/a
37	CEBPB	chr9:15357074-15357375	A549	lung:	n/a	chr9:15357245-15357256
38	CTCF	chr9:15357160-15357310	NB4	blood:	n/a	n/a
39	CEBPB	chr9:15357101-15357372	HepG2	liver:	n/a	chr9:15357245-15357256
40	CTCF	chr9:15357009-15357391	K562	blood:	n/a	n/a
41	CTCF	chr9:15357057-15357312	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr9:15357187-15357345	Hela-S3	cervix:	n/a	chr9:15357245-15357256
43	RAD21	chr9:15356970-15357434	MCF-7	breast:	n/a	n/a
44	SMC3	chr9:15357038-15357428	HepG2	liver:	n/a	n/a
45	MAX	chr9:15357097-15357382	NB4	blood:	n/a	n/a
46	CTCF	chr9:15357120-15357270	MCF-7	breast:	n/a	n/a
47	CTCF	chr9:15357120-15357270	GM12865	blood:	n/a	n/a
48	CTCF	chr9:15357106-15357293	GM12892	blood:	n/a	n/a
49	CTCF	chr9:15357240-15357390	GM06990	blood:	n/a	n/a
50	RAD21	chr9:15356930-15357343	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:15277443..15278337-chr9:15356714..15357650,2	MCF-7	breast:
2	chr9:15211338..15211919-chr9:15356761..15357369,2	MCF-7	breast:
3	chr9:15357011..15359248-chr9:15422187..15424051,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPL7P33	TF binding region
ENSG00000164975	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1215125	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs2805011	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs481929	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs481988	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs514930	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs519761	0.80[CEU][hapmap]
rs542734	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs597047	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs635431	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs639417	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs641274	0.95[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892624	chr9:15283761-15415461	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv517975	chr9:15286446-15534070	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv613650	chr9:15296119-15378449	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv613651	chr9:15296355-15358157	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1015960	chr9:15296783-15380657	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv524849	chr9:15299590-15362057	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv892625	chr9:15326251-16064850	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1030287	chr9:15332709-15458001	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15349000-15357600	Enhancers	HepG2	liver
2	chr9:15353600-15357400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr9:15354000-15357600	Enhancers	Primary T cells from cord blood	blood
4	chr9:15354600-15357600	Enhancers	Primary hematopoietic stem cells	blood
5	chr9:15355200-15358400	Enhancers	Fetal Intestine Small	intestine
6	chr9:15355400-15358600	Enhancers	Fetal Intestine Large	intestine
7	chr9:15356200-15362800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:15356400-15358000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:15356600-15357400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr9:15356600-15357400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr9:15356600-15357600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr9:15356800-15357400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr9:15356800-15357600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr9:15356800-15357600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr9:15356800-15358000	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr9:15357200-15357400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr9:15357200-15357400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr9:15357200-15357400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr9:15357200-15357400	Enhancers	Fetal Thymus	thymus
20	chr9:15357200-15357600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:15357200-15357600	Enhancers	Primary B cells from peripheral blood	blood
22	chr9:15357200-15357600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr9:15357200-15357600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:15357200-15357600	Enhancers	Thymus	Thymus

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