Variant report

Variant	rs28421068
Chromosome Location	chr8:96144017-96144018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr8:96143550-96144383	PBDE	blood:	n/a	n/a
2	RUNX3	chr8:96143379-96144147	GM12878	blood:	n/a	n/a
3	NFIC	chr8:96143374-96144032	GM12878	blood:	n/a	n/a
4	IRF1	chr8:96143520-96144034	K562	blood:	n/a	n/a
5	RUNX3	chr8:96143393-96144021	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96143545..96145795-chr8:96241070..96242615,2	K562	blood:
2	chr8:96142341..96149648-chr8:96278644..96282772,12	MCF-7	breast:
3	chr8:96131679..96134773-chr8:96142918..96145954,3	MCF-7	breast:
4	chr8:96143208..96147491-chr8:96279441..96282856,8	MCF-7	breast:
5	chr8:96085590..96087361-chr8:96143254..96146025,2	K562	blood:
6	chr8:96081666..96087784-chr8:96143058..96146914,11	MCF-7	breast:
7	chr8:96096484..96101537-chr8:96142870..96147410,9	MCF-7	breast:
8	chr8:96082201..96091738-chr8:96143838..96148400,13	MCF-7	breast:
9	chr8:96035638..96037575-chr8:96142596..96146380,3	K562	blood:
10	chr8:96128905..96131043-chr8:96141936..96144517,2	K562	blood:

No data

Variant related genes	Relation type
PLEKHF2	TF binding region
ENSG00000156172	Chromatin interaction
ENSG00000254248	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000245080	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10087335	1.00[AMR][1000 genomes]
rs10089832	1.00[AMR][1000 genomes]
rs10093849	1.00[AMR][1000 genomes]
rs10100231	1.00[AMR][1000 genomes]
rs10104137	1.00[AFR][1000 genomes]
rs10107484	1.00[AMR][1000 genomes]
rs10216558	1.00[AMR][1000 genomes]
rs10216590	1.00[AMR][1000 genomes]
rs12334340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13438816	1.00[AMR][1000 genomes]
rs28370425	1.00[AMR][1000 genomes]
rs28431001	1.00[AMR][1000 genomes]
rs28454923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28504672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28569283	1.00[AMR][1000 genomes]
rs28645781	1.00[AMR][1000 genomes]
rs28713284	1.00[AMR][1000 genomes]
rs28736358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278574	1.00[AMR][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	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:28 , 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	chr8:96141600-96145200	Enhancers	K562	blood
7	chr8:96142000-96145000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:96142000-96145600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:96142400-96145200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:96142400-96145400	Weak transcription	NHLF	lung
11	chr8:96142600-96145000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:96142600-96145200	Weak transcription	HMEC	breast
13	chr8:96142800-96144800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:96142800-96145400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:96143000-96145200	Weak transcription	Esophagus	oesophagus
16	chr8:96143200-96145000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:96143200-96145000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:96143200-96145200	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:96143200-96145200	Weak transcription	HUVEC	blood vessel
20	chr8:96143200-96145600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:96143400-96144600	Weak transcription	NHEK	skin
22	chr8:96143800-96145000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:96143800-96145000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:96143800-96145200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:96143800-96145200	Weak transcription	Brain Angular Gyrus	brain
26	chr8:96143800-96145200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr8:96144000-96145200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:96144000-96145400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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