Variant report

Variant	rs2568071
Chromosome Location	chr11:8854309-8854310
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	STAT1	chr11:8853916-8854879	Hela-S3	cervix:	n/a	chr11:8854224-8854235 chr11:8854223-8854237 chr11:8854569-8854578 chr11:8854226-8854234 chr11:8854568-8854577
2	RUNX3	chr11:8854223-8854900	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:8854283-8854731	GM12878	blood:	n/a	n/a
4	STAT3	chr11:8853913-8855864	MCF10A-Er-Src	breast:	n/a	chr11:8854223-8854237 chr11:8854569-8854578 chr11:8854226-8854234 chr11:8854568-8854577
5	RCOR1	chr11:8854006-8854903	IMR90	lung:	n/a	n/a
6	STAT3	chr11:8854010-8856009	MCF10A-Er-Src	breast:	n/a	chr11:8854223-8854237 chr11:8854569-8854578 chr11:8854226-8854234 chr11:8854568-8854577
7	MTA3	chr11:8854083-8854899	GM12878	blood:	n/a	n/a
8	RELA	chr11:8854077-8854880	GM12891	blood:	n/a	n/a
9	MAX	chr11:8854177-8854820	GM12878	blood:	n/a	n/a
10	IKZF1	chr11:8854258-8854914	GM12878	blood:	n/a	n/a
11	MYC	chr11:8854023-8854853	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr11:8854020-8855893	MCF10A-Er-Src	breast:	n/a	chr11:8854223-8854237 chr11:8854569-8854578 chr11:8854226-8854234 chr11:8854568-8854577
13	NFIC	chr11:8854303-8855395	GM12878	blood:	n/a	n/a
14	E2F4	chr11:8854263-8854452	MCF10A-Er-Src	breast:	n/a	n/a
15	JUND	chr11:8854142-8854414	H1-hESC	embryonic stem cell:	n/a	n/a
16	FOS	chr11:8854149-8854606	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:8854193-8854865	GM12892	blood:	n/a	n/a
18	TCF12	chr11:8853894-8855032	SK-N-SH	brain:	n/a	n/a
19	EBF1	chr11:8854235-8854837	GM12878	blood:	n/a	n/a
20	FOS	chr11:8854057-8854802	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:8854305-8854808	GM12892	blood:	n/a	n/a
22	FOXM1	chr11:8854258-8855010	GM12878	blood:	n/a	n/a
23	RELA	chr11:8854206-8854898	GM19099	blood:	n/a	n/a
24	POLR2A	chr11:8854056-8854863	GM12878	blood:	n/a	n/a
25	STAT3	chr11:8854061-8854644	MCF10A-Er-Src	breast:	n/a	chr11:8854223-8854237 chr11:8854569-8854578 chr11:8854226-8854234 chr11:8854568-8854577
26	POLR2A	chr11:8854090-8854880	GM12892	blood:	n/a	n/a
27	PML	chr11:8854032-8854894	GM12878	blood:	n/a	n/a
28	PAX5	chr11:8854208-8854897	GM12878	blood:	n/a	chr11:8854702-8854711
29	SMC3	chr11:8854270-8854741	GM12878	blood:	n/a	n/a
30	MAX	chr11:8854011-8854855	SK-N-SH	brain:	n/a	n/a
31	ZNF384	chr11:8854036-8854810	GM12878	blood:	n/a	n/a
32	MYC	chr11:8854064-8854436	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr11:8854147-8854899	GM12892	blood:	n/a	n/a
34	MXI1	chr11:8853998-8855075	IMR90	lung:	n/a	n/a
35	FOS	chr11:8854063-8854748	MCF10A-Er-Src	breast:	n/a	n/a
36	RUNX3	chr11:8854103-8854898	GM12878	blood:	n/a	n/a
37	RAD21	chr11:8854153-8854354	IMR90	lung:	n/a	n/a
38	POLR2A	chr11:8854018-8854726	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr11:8854236-8854350	ProgFib	skin:	n/a	n/a
40	POLR2A	chr11:8854111-8855485	MCF10A-Er-Src	breast:	n/a	n/a
41	TCF12	chr11:8854014-8854883	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr11:8854250-8854783	GM12878	blood:	n/a	n/a
43	ELF1	chr11:8854085-8854723	GM12878	blood:	n/a	n/a
44	WRNIP1	chr11:8854230-8854600	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8840012..8842971-chr11:8854220..8856402,2	MCF-7	breast:

Variant related genes	Relation type
ST5	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11042083	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12574497	0.95[AFR][1000 genomes]
rs2455604	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2568050	0.86[AFR][1000 genomes]
rs2653589	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4290228	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4617587	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7113023	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7947427	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv527920	chr11:8816695-8856822	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8833200-8859800	Weak transcription	Aorta	Aorta
2	chr11:8845800-8860000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:8846600-8854400	Weak transcription	Fetal Intestine Large	intestine
4	chr11:8850400-8854600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:8850800-8854400	Weak transcription	Adipose Nuclei	Adipose
6	chr11:8850800-8854400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:8850800-8854600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:8850800-8854600	Weak transcription	Fetal Kidney	kidney
9	chr11:8851000-8859200	Weak transcription	Fetal Lung	lung
10	chr11:8851000-8861400	Weak transcription	Brain Substantia Nigra	brain
11	chr11:8851600-8854400	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:8851600-8856200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:8851800-8862400	Enhancers	Placenta	Placenta
14	chr11:8852000-8859200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr11:8852600-8855400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:8852600-8856200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:8852600-8856400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:8852800-8854800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:8852800-8855800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:8852800-8861600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:8853000-8856200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:8853000-8856200	Enhancers	HMEC	breast
23	chr11:8853000-8856400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:8853000-8856400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:8853000-8858000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:8853000-8861400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:8853400-8854400	Enhancers	Brain Anterior Caudate	brain
28	chr11:8853400-8854800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:8853400-8856000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr11:8853400-8856000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:8853400-8856200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:8853400-8856400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr11:8853400-8857600	Enhancers	NHLF	lung
34	chr11:8853600-8854800	Flanking Active TSS	NHEK	skin
35	chr11:8853600-8855400	Enhancers	Esophagus	oesophagus
36	chr11:8853600-8855800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:8853600-8856200	Enhancers	Colon Smooth Muscle	Colon
38	chr11:8853600-8856800	Enhancers	NH-A	brain
39	chr11:8853800-8854400	Enhancers	Fetal Muscle Trunk	muscle
40	chr11:8853800-8854800	Enhancers	Fetal Thymus	thymus
41	chr11:8853800-8856400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:8853800-8856400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr11:8853800-8856400	Enhancers	Fetal Muscle Leg	muscle
44	chr11:8854000-8854400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:8854000-8854400	Enhancers	Pancreas	Pancrea
46	chr11:8854000-8854400	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr11:8854000-8854400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:8854000-8854600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:8854000-8854600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr11:8854000-8854600	Enhancers	Colonic Mucosa	Colon

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