Variant report

Variant	rs11604258
Chromosome Location	chr11:108908881-108908882
allele	A/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	GATA3	chr11:108908728-108909615	SK-N-SH	brain:	n/a	chr11:108908931-108908944 chr11:108909095-108909104
2	GATA3	chr11:108908551-108909670	SK-N-SH	brain:	n/a	chr11:108908931-108908944 chr11:108909095-108909104
3	EP300	chr11:108908856-108909692	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr11:108908754-108909562	SK-N-SH	brain:	n/a	n/a
5	NFIC	chr11:108908858-108909597	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr11:108908557-108909677	SK-N-SH	brain:	n/a	chr11:108909544-108909554 chr11:108908788-108908798
7	GATA2	chr11:108908655-108909551	HUVEC	blood vessel:	n/a	chr11:108908931-108908944 chr11:108909095-108909104
8	FOSL2	chr11:108908829-108909573	SK-N-SH	brain:	n/a	chr11:108909097-108909106 chr11:108909208-108909219 chr11:108909207-108909214
9	TCF12	chr11:108908823-108909614	SK-N-SH	brain:	n/a	chr11:108909544-108909554
10	PBX3	chr11:108908561-108909533	SK-N-SH	brain:	n/a	n/a
11	EP300	chr11:108908864-108909448	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000255528	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11600306	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58200195	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60268023	1.00[ASN][1000 genomes]
rs61344275	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72994736	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72994754	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72996736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72996743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73010563	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73010594	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040650	chr11:108859584-109174553	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv898390	chr11:108893765-109003536	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1815918	chr11:108900487-108948487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108905400-108909200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:108905400-108909400	Weak transcription	NHDF-Ad	bronchial
3	chr11:108905600-108909000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:108907000-108911000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:108907400-108909000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:108907400-108917400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:108907600-108917200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:108907800-108909200	Weak transcription	Esophagus	oesophagus
9	chr11:108908000-108909800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:108908000-108910400	Enhancers	Osteobl	bone
11	chr11:108908200-108911000	Enhancers	NHEK	skin
12	chr11:108908400-108910400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:108908400-108910400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr11:108908400-108910800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:108908400-108911000	Enhancers	HUVEC	blood vessel
16	chr11:108908600-108909000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:108908600-108909200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:108908600-108909600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:108908600-108909600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:108908600-108909800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr11:108908600-108909800	Enhancers	NH-A	brain
22	chr11:108908600-108910000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:108908600-108910000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:108908600-108910200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:108908600-108910400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:108908600-108910800	Enhancers	HMEC	breast
27	chr11:108908800-108909200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:108908800-108909600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:108908800-108909600	Enhancers	Brain Germinal Matrix	brain
30	chr11:108908800-108909800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:108908800-108909800	Enhancers	HSMM	muscle

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