Variant report

Variant	rs10767592
Chromosome Location	chr11:27062338-27062339
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	STAT3	chr11:27061657-27062636	MCF10A-Er-Src	breast:	n/a	chr11:27061795-27061803 chr11:27062471-27062479
2	CEBPB	chr11:27062301-27062658	HepG2	liver:	n/a	chr11:27062468-27062481 chr11:27062470-27062479 chr11:27062469-27062480 chr11:27062468-27062479
3	FOS	chr11:27061787-27062628	MCF10A-Er-Src	breast:	n/a	chr11:27061973-27061980 chr11:27061973-27061981 chr11:27061974-27061985 chr11:27061971-27061983
4	STAT3	chr11:27061770-27062639	MCF10A-Er-Src	breast:	n/a	chr11:27061795-27061803 chr11:27062471-27062479
5	CEBPB	chr11:27062318-27062621	IMR90	lung:	n/a	chr11:27062468-27062481 chr11:27062470-27062479 chr11:27062469-27062480 chr11:27062468-27062479
6	CEBPB	chr11:27062330-27062641	A549	lung:	n/a	chr11:27062468-27062481 chr11:27062470-27062479 chr11:27062469-27062480 chr11:27062468-27062479
7	STAT3	chr11:27061670-27062922	MCF10A-Er-Src	breast:	n/a	chr11:27061795-27061803 chr11:27062471-27062479
8	POLR2A	chr11:27061536-27063509	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr11:27061658-27063043	MCF10A-Er-Src	breast:	n/a	chr11:27061795-27061803 chr11:27062471-27062479
10	FOS	chr11:27061485-27062897	MCF10A-Er-Src	breast:	n/a	chr11:27061973-27061980 chr11:27061973-27061981 chr11:27061974-27061985 chr11:27061971-27061983
11	FOS	chr11:27061754-27062662	MCF10A-Er-Src	breast:	n/a	chr11:27061973-27061980 chr11:27061973-27061981 chr11:27061974-27061985 chr11:27061971-27061983
12	CEBPB	chr11:27062292-27062594	ECC-1	luminal epithelium:	n/a	chr11:27062468-27062481 chr11:27062470-27062479 chr11:27062469-27062480 chr11:27062468-27062479
13	MYC	chr11:27061498-27062895	MCF10A-Er-Src	breast:	n/a	n/a
14	CEBPB	chr11:27062301-27062649	H1-hESC	embryonic stem cell:	n/a	chr11:27062468-27062481 chr11:27062470-27062479 chr11:27062469-27062480 chr11:27062468-27062479
15	FOS	chr11:27061731-27062956	MCF10A-Er-Src	breast:	n/a	chr11:27061973-27061980 chr11:27061973-27061981 chr11:27061974-27061985 chr11:27061971-27061983
16	POLR2A	chr11:27062111-27062649	MCF10A-Er-Src	breast:	n/a	n/a
17	CEBPB	chr11:27062323-27062641	Hela-S3	cervix:	n/a	chr11:27062468-27062481 chr11:27062470-27062479 chr11:27062469-27062480 chr11:27062468-27062479
18	CEBPB	chr11:27062204-27062731	MCF-7	breast:	n/a	chr11:27062468-27062481 chr11:27062470-27062479 chr11:27062469-27062480 chr11:27062468-27062479
19	CEBPB	chr11:27062199-27062721	MCF-7	breast:	n/a	chr11:27062468-27062481 chr11:27062470-27062479 chr11:27062469-27062480 chr11:27062468-27062479

Variant related genes	Relation type
BBOX1	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10501074	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10742165	0.82[ASN][1000 genomes]
rs10767593	0.81[ASN][1000 genomes]
rs10767594	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10767595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10767596	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835105	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs10835108	0.83[JPT][hapmap]
rs10835111	0.83[JPT][hapmap]
rs11029780	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs11029797	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11029798	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11029801	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11029803	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11029805	0.80[ASN][1000 genomes]
rs11029806	0.80[ASN][1000 genomes]
rs11029811	0.82[JPT][hapmap]
rs11029817	0.83[JPT][hapmap]
rs1348655	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1442935	0.83[JPT][hapmap]
rs1442936	0.83[JPT][hapmap]
rs1445315	0.83[JPT][hapmap]
rs1445317	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1445322	0.82[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap]
rs1445325	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1445329	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1584011	0.83[JPT][hapmap]
rs1596252	0.81[JPT][hapmap]
rs1596253	0.83[JPT][hapmap]
rs2165771	0.82[JPT][hapmap]
rs2165772	0.83[JPT][hapmap]
rs2351062	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2351063	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28541300	0.80[ASN][1000 genomes]
rs4923411	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4923419	0.83[JPT][hapmap]
rs7107938	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7119888	0.83[JPT][hapmap]
rs7124309	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7124431	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7125612	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7479320	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7926773	0.82[JPT][hapmap]
rs7936789	0.82[ASN][1000 genomes]
rs7939644	0.84[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs979894	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs980804	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916187	chr11:26576875-27328603	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv949332	chr11:26935972-27223492	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv897147	chr11:26983363-27258899	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1040964	chr11:26998213-27223388	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv540975	chr11:26998213-27223388	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv949575	chr11:27005687-27233359	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv533052	chr11:27006061-27225374	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv553912	chr11:27014032-27240951	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers 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
9	nsv467781	chr11:27019331-27240951	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv553913	chr11:27019331-27240951	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv897148	chr11:27026424-27071118	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv508619	chr11:27028494-27110734	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:27060600-27064000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:27061400-27063600	Enhancers	HMEC	breast
3	chr11:27061600-27062400	Enhancers	Fetal Kidney	kidney
4	chr11:27061600-27063000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:27061600-27063200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:27061600-27063600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:27061600-27064000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:27061800-27062400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:27061800-27062600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr11:27061800-27062600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:27061800-27062600	Enhancers	Fetal Heart	heart
12	chr11:27061800-27062800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:27061800-27062800	Enhancers	Stomach Smooth Muscle	stomach
14	chr11:27061800-27063200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:27061800-27063200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:27061800-27063200	Enhancers	Aorta	Aorta
17	chr11:27061800-27063400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:27061800-27063400	Enhancers	Colon Smooth Muscle	Colon
19	chr11:27061800-27063400	Enhancers	Fetal Muscle Leg	muscle
20	chr11:27061800-27063400	Enhancers	Placenta	Placenta
21	chr11:27061800-27063600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr11:27061800-27064000	Active TSS	Brain Anterior Caudate	brain
23	chr11:27062000-27062400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:27062000-27062600	Enhancers	Pancreas	Pancrea
25	chr11:27062000-27062600	Enhancers	Rectal Smooth Muscle	rectum
26	chr11:27062000-27063200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:27062000-27063200	Enhancers	Liver	Liver
28	chr11:27062000-27063400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:27062000-27063600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:27062000-27064000	Enhancers	Fetal Stomach	stomach
31	chr11:27062200-27063000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:27062200-27063000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:27062200-27063200	Enhancers	NHEK	skin
34	chr11:27062200-27063400	Enhancers	Brain Germinal Matrix	brain
35	chr11:27062200-27063800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr11:27062200-27064000	Enhancers	Fetal Lung	lung

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