Variant report

Variant	rs297553
Chromosome Location	chr8:96142187-96142188
allele	A/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	chr8:96142081-96142259	MCF10A-Er-Src	breast:	n/a	n/a
2	PBX3	chr8:96141856-96142361	SK-N-SH	brain:	n/a	n/a
3	FOS	chr8:96142062-96142235	MCF10A-Er-Src	breast:	n/a	n/a
4	FOSL2	chr8:96141859-96142353	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:96140207..96143129-chr8:96281545..96283235,2	MCF-7	breast:
2	chr8:96112354..96115453-chr8:96140583..96143912,3	MCF-7	breast:
3	chr8:96139877..96143059-chr8:96143107..96147116,6	MCF-7	breast:
4	chr8:96131982..96134440-chr8:96140057..96142530,2	MCF-7	breast:
5	chr8:96128905..96131043-chr8:96141936..96144517,2	K562	blood:

Variant related genes	Relation type
PLEKHF2	TF binding region
ENSG00000175895	Chromatin interaction
ENSG00000156170	Chromatin interaction

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

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

rs_ID	r²[population]
rs1320165	1.00[YRI][hapmap]
rs2254651	1.00[YRI][hapmap]
rs2599717	1.00[YRI][hapmap]
rs2678830	1.00[YRI][hapmap]
rs297556	1.00[AFR][1000 genomes]
rs297558	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs297560	1.00[YRI][hapmap]
rs471691	1.00[YRI][hapmap]
rs538963	1.00[YRI][hapmap]
rs894154	1.00[YRI][hapmap]

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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv891207	chr8:96106037-96160914	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96128000-96145200	Weak transcription	A549	lung
2	chr8:96139600-96145400	Enhancers	Primary B cells from cord blood	blood
3	chr8:96139800-96145000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:96140800-96144200	Enhancers	GM12878-XiMat	blood
5	chr8:96140800-96145400	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:96141200-96142600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:96141200-96143200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:96141400-96142200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr8:96141400-96142600	Enhancers	HMEC	breast
10	chr8:96141400-96142800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:96141600-96142400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:96141600-96142800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:96141600-96143200	Enhancers	Primary hematopoietic stem cells	blood
14	chr8:96141600-96143200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:96141600-96143800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:96141600-96144000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:96141600-96145200	Enhancers	K562	blood
18	chr8:96141800-96142400	Enhancers	NHLF	lung
19	chr8:96141800-96143800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:96142000-96142400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:96142000-96142600	Enhancers	Osteobl	bone
22	chr8:96142000-96143400	Enhancers	NHEK	skin
23	chr8:96142000-96145000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:96142000-96145600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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