Variant report

Variant	rs4871743
Chromosome Location	chr8:127856177-127856178
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	POLR2A	chr8:127856110-127856266	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PCAT1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10090865	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11991570	0.90[EUR][1000 genomes]
rs7825034	0.82[CEU][hapmap]
rs902126	0.83[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4871743	FER1L6	cis	cerebellum	SCAN
rs4871743	POU5F1B	cis	cerebellum	SCAN

Chromatin state (count:26 , 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	chr8:127846800-127857200	Weak transcription	Fetal Kidney	kidney
3	chr8:127847600-127857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:127847600-127860000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:127849600-127856600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:127853600-127857800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:127854400-127856600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:127854400-127858200	Enhancers	Placenta	Placenta
9	chr8:127854400-127858600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:127854600-127856200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:127854800-127856600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:127855000-127856400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:127855000-127856600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:127855000-127856800	Weak transcription	HMEC	breast
15	chr8:127855000-127858200	Weak transcription	Stomach Mucosa	stomach
16	chr8:127855400-127856400	Enhancers	Fetal Lung	lung
17	chr8:127855400-127856800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:127855600-127856400	Weak transcription	Lung	lung
19	chr8:127855600-127857000	Weak transcription	Esophagus	oesophagus
20	chr8:127855600-127857000	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:127855600-127857000	Weak transcription	HSMMtube	muscle
22	chr8:127855800-127856400	Enhancers	Adipose Nuclei	Adipose
23	chr8:127855800-127857000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:127855800-127857000	Enhancers	NHEK	skin
25	chr8:127856000-127856200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:127856000-127857800	Active TSS	Fetal Muscle Trunk	muscle

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