Variant report

Variant	rs4696888
Chromosome Location	chr4:8542066-8542067
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8538338..8543611-chr4:8548493..8553766,7	MCF-7	breast:
2	chr4:8534354..8538693-chr4:8538746..8544060,9	MCF-7	breast:
3	chr4:8542053..8545358-chr4:8547295..8551816,4	MCF-7	breast:
4	chr4:8541623..8544258-chr4:8557872..8560632,2	K562	blood:

Variant related genes	Relation type
ENSG00000155269	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3103091	0.94[AMR][1000 genomes]
rs3115401	0.94[AMR][1000 genomes]
rs4696887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7435632	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv4224	chr4:8503727-8546462	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv461221	chr4:8534283-8554894	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv593640	chr4:8534283-8554894	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv878612	chr4:8534283-8618916	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv980117	chr4:8535043-8545141	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1832730	chr4:8541086-9514568	Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
9	esv1843578	chr4:8541086-9514568	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8532600-8542800	Enhancers	Placenta	Placenta
2	chr4:8533200-8542800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:8537400-8542200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:8537600-8542600	Enhancers	GM12878-XiMat	blood
5	chr4:8538200-8542200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:8538200-8542200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:8538400-8542200	Enhancers	NHDF-Ad	bronchial
8	chr4:8538600-8542200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:8539200-8542200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:8539400-8546400	Weak transcription	HSMMtube	muscle
11	chr4:8539600-8546400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:8541000-8542200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:8541000-8542600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr4:8541200-8542200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:8541200-8542400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr4:8541200-8546000	Weak transcription	HSMM	muscle
17	chr4:8541400-8542200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:8541400-8544600	Weak transcription	Esophagus	oesophagus
19	chr4:8541600-8542200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr4:8541600-8542200	Enhancers	NHLF	lung
21	chr4:8541600-8542200	Enhancers	Osteobl	bone
22	chr4:8541600-8542400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr4:8541600-8549000	Weak transcription	HMEC	breast
24	chr4:8541800-8542200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:8541800-8542400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:8541800-8543000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:8541800-8545800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr4:8542000-8542200	Enhancers	Primary T helper cells PMA-I stimulated	--

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