Variant report

Variant	rs2008991
Chromosome Location	chr8:127857871-127857872
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	FOS	chr8:127857406-127858279	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:127857531-127857878	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PCAT1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16901775	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16901780	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3999836	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73330313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73330322	0.87[AFR][1000 genomes];0.86[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	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv6382	chr8:127845446-127890549	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127846600-127858200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:127847600-127860000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:127854400-127858200	Enhancers	Placenta	Placenta
4	chr8:127854400-127858600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:127855000-127858200	Weak transcription	Stomach Mucosa	stomach
6	chr8:127856600-127858000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr8:127856600-127858600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:127856600-127858600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:127856800-127858000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:127857000-127859600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:127857200-127859000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:127857400-127858600	Enhancers	HSMM	muscle
13	chr8:127857400-127862000	Weak transcription	Fetal Kidney	kidney
14	chr8:127857600-127858600	Enhancers	HMEC	breast
15	chr8:127857600-127859000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:127857600-127859200	Weak transcription	Psoas Muscle	Psoas
17	chr8:127857600-127859200	Enhancers	NHEK	skin
18	chr8:127857600-127861400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:127857800-127858400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:127857800-127858800	Weak transcription	Adipose Nuclei	Adipose
21	chr8:127857800-127859000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:127857800-127859800	Enhancers	HSMMtube	muscle
23	chr8:127857800-127860200	Enhancers	Fetal Muscle Leg	muscle

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