Variant report

Variant	rs11995465
Chromosome Location	chr8:91711782-91711783
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	FOS	chr8:91711606-91711993	MCF10A-Er-Src	breast:	n/a	chr8:91711749-91711758
2	EBF1	chr8:91711781-91711843	GM12878	blood:	n/a	n/a
3	FOS	chr8:91711662-91711960	MCF10A-Er-Src	breast:	n/a	chr8:91711749-91711758
4	FOS	chr8:91711564-91711968	MCF10A-Er-Src	breast:	n/a	chr8:91711749-91711758
5	STAT3	chr8:91711693-91711959	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr8:91711556-91711937	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr8:91711760-91711969	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr8:91711717-91712026	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91703619..91705136-chr8:91710451..91712123,2	MCF-7	breast:
2	chr8:91710184..91712284-chr8:91713159..91715653,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254182	TF binding region
ENSG00000254182	Chromatin interaction

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

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

rs_ID	r²[population]
rs10453062	0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11990358	0.81[AMR][1000 genomes]
rs2018362	0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs28609363	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4412336	0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs55933348	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55950958	0.87[AFR][1000 genomes]
rs59008785	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60872945	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6471250	0.93[AMR][1000 genomes]
rs73694549	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91698800-91721200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:91705600-91712400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:91705800-91712800	Weak transcription	Osteobl	bone
4	chr8:91705800-91713000	Weak transcription	NH-A	brain
5	chr8:91707200-91713000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:91707400-91711800	Weak transcription	NHDF-Ad	bronchial
7	chr8:91707400-91712400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:91707400-91712600	Weak transcription	NHLF	lung
9	chr8:91707400-91713200	Weak transcription	Ovary	ovary
10	chr8:91707600-91712800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:91707800-91711800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:91707800-91713000	Weak transcription	HSMM	muscle
13	chr8:91710000-91712600	Weak transcription	Fetal Intestine Large	intestine
14	chr8:91710400-91711800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:91711000-91714800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:91711200-91713000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:91711200-91713800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:91711200-91714600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:91711200-91715000	Enhancers	Adipose Nuclei	Adipose
20	chr8:91711400-91712000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:91711400-91712000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:91711400-91712200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:91711400-91712200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:91711400-91713800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:91711400-91714000	Enhancers	Colon Smooth Muscle	Colon
26	chr8:91711400-91715000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:91711400-91715000	Enhancers	HMEC	breast
28	chr8:91711400-91715000	Enhancers	NHEK	skin
29	chr8:91711600-91711800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:91711600-91711800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr8:91711600-91712000	Enhancers	Fetal Intestine Small	intestine
32	chr8:91711600-91714200	Enhancers	Rectal Smooth Muscle	rectum

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