Variant report

Variant	rs2653579
Chromosome Location	chr11:8933789-8933790
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	YY1	chr11:8933776-8934159	H1-hESC	embryonic stem cell:	n/a	chr11:8933922-8933944 chr11:8933933-8933941 chr11:8933932-8933944
2	MXI1	chr11:8931149-8934261	SK-N-SH	brain:	n/a	n/a
3	ZNF384	chr11:8933021-8933934	GM12878	blood:	n/a	n/a
4	RPC155	chr11:8933241-8933970	Hela-S3	cervix:	n/a	n/a
5	ZNF384	chr11:8932558-8934324	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:8930312..8934560-chr11:9023959..9026944,3	K562	blood:
2	chr11:8702257..8705886-chr11:8931185..8934379,5	MCF-7	breast:
3	chr11:8891163..8893518-chr11:8931818..8934397,2	MCF-7	breast:
4	chr11:8931659..8933906-chr11:8984325..8986430,2	K562	blood:
5	chr11:8723990..8726026-chr11:8932554..8934656,2	K562	blood:
6	chr11:8932589..8934691-chr11:10326254..10327939,2	MCF-7	breast:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000148926	Chromatin interaction
ENSG00000175348	Chromatin interaction
ENSG00000254860	Chromatin interaction
ENSG00000253973	Chromatin interaction
ENSG00000175352	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000200983	Chromatin interaction
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10769982	0.89[AMR][1000 genomes]
rs10840149	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11042155	0.89[AMR][1000 genomes]
rs2262323	0.90[AMR][1000 genomes]
rs2455603	0.80[AFR][1000 genomes]
rs2568021	0.90[AMR][1000 genomes]
rs2568026	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2568027	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2568036	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568041	0.82[AFR][1000 genomes]
rs2568072	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2568083	0.89[AMR][1000 genomes]
rs2653561	0.90[AMR][1000 genomes]
rs2653583	0.90[AMR][1000 genomes]
rs2653585	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2653600	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2742479	0.90[AMR][1000 genomes]
rs2742482	0.89[AMR][1000 genomes]
rs2742507	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2742518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2742526	0.90[AMR][1000 genomes]
rs2742527	0.90[AMR][1000 genomes]
rs3105215	0.88[AFR][1000 genomes]
rs6416159	0.89[AMR][1000 genomes]
rs7396042	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7936297	0.89[AMR][1000 genomes]
rs7950826	0.89[AMR][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	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
4	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
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8931200-8933800	Active TSS	Brain Anterior Caudate	brain
2	chr11:8931400-8933800	Active TSS	Brain Angular Gyrus	brain
3	chr11:8931400-8933800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr11:8931400-8933800	Active TSS	Fetal Lung	lung
5	chr11:8931400-8934000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:8931400-8934000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:8931400-8934000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:8931400-8934000	Active TSS	Rectal Smooth Muscle	rectum
9	chr11:8931400-8934200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:8931600-8933800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:8931600-8933800	Active TSS	Brain Germinal Matrix	brain
12	chr11:8931600-8933800	Active TSS	Esophagus	oesophagus
13	chr11:8931600-8934000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:8931600-8934000	Active TSS	Colonic Mucosa	Colon
15	chr11:8931600-8934000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:8931600-8934000	Active TSS	Ovary	ovary
17	chr11:8931600-8934000	Active TSS	Right Atrium	heart
18	chr11:8931600-8934400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr11:8931600-8935200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:8931800-8933800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:8931800-8933800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:8931800-8933800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:8931800-8933800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:8931800-8933800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:8931800-8933800	Active TSS	Primary T cells from cord blood	blood
26	chr11:8931800-8933800	Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:8931800-8933800	Active TSS	Aorta	Aorta
28	chr11:8931800-8933800	Active TSS	Brain Hippocampus Middle	brain
29	chr11:8931800-8933800	Active TSS	Colon Smooth Muscle	Colon
30	chr11:8931800-8933800	Active TSS	Fetal Heart	heart
31	chr11:8931800-8933800	Active TSS	Placenta Amnion	Placenta Amnion
32	chr11:8931800-8933800	Active TSS	A549	lung
33	chr11:8931800-8933800	Active TSS	HepG2	liver
34	chr11:8931800-8934000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr11:8931800-8934000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:8931800-8934000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:8931800-8934000	Active TSS	HSMM	muscle
38	chr11:8931800-8934000	Active TSS	HSMMtube	muscle
39	chr11:8931800-8934200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:8931800-8934200	Active TSS	Fetal Brain Female	brain
41	chr11:8931800-8934200	Active TSS	Fetal Kidney	kidney
42	chr11:8931800-8934200	Active TSS	Thymus	Thymus
43	chr11:8931800-8934400	Active TSS	Brain Substantia Nigra	brain
44	chr11:8932000-8933800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr11:8932000-8933800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr11:8932000-8933800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:8932000-8933800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:8932000-8933800	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr11:8932000-8933800	Active TSS	Brain Cingulate Gyrus	brain
50	chr11:8932000-8933800	Active TSS	Brain Inferior Temporal Lobe	brain

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