Variant report

Variant	rs2028806
Chromosome Location	chr8:8930038-8930039
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	POLR2A	chr8:8925961-8930534	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8928456..8932656-chr8:9005556..9008875,5	MCF-7	breast:

Variant related genes	Relation type
RNU7-55P	TF binding region
ENSG00000173281	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs1900102	0.81[JPT][hapmap]
rs2921370	0.81[JPT][hapmap]
rs2953803	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs895254	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs920974	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2028806	MFHAS1	cis	cerebellum	SCAN
rs2028806	PPP1R3B	cis	cerebellum	SCAN
rs2028806	FLJ10661	cis	cerebellum	SCAN
rs2028806	FLJ10661	cis	parietal	SCAN
rs2028806	TDH	cis	cerebellum	SCAN
rs2028806	CTSB	cis	cerebellum	SCAN
rs2028806	PRSS55	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8916000-8935200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:8923800-8932000	Weak transcription	A549	lung
3	chr8:8924000-8932000	Weak transcription	Right Atrium	heart
4	chr8:8924000-8936200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:8924000-8937800	Weak transcription	Lung	lung
6	chr8:8924000-8939600	Weak transcription	Right Ventricle	heart
7	chr8:8924200-8930400	Weak transcription	Fetal Intestine Small	intestine
8	chr8:8924600-8930200	Weak transcription	HSMM	muscle
9	chr8:8924600-8932200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:8924800-8930200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:8925000-8932000	Weak transcription	Fetal Lung	lung
12	chr8:8925200-8930200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:8925200-8932200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:8925200-8932600	Weak transcription	Liver	Liver
15	chr8:8925600-8930200	Weak transcription	Fetal Heart	heart
16	chr8:8928000-8930200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:8928400-8932000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:8928400-8932000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:8928600-8931600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:8928600-8931800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:8928600-8932000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:8928600-8932000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:8928600-8932000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:8928600-8932000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:8928600-8932000	Weak transcription	HMEC	breast
26	chr8:8928600-8932000	Weak transcription	NHEK	skin
27	chr8:8928600-8932000	Weak transcription	Osteobl	bone
28	chr8:8928600-8933000	Weak transcription	Left Ventricle	heart
29	chr8:8928600-8933400	Weak transcription	Psoas Muscle	Psoas
30	chr8:8928600-8934200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:8928800-8930600	Weak transcription	HSMMtube	muscle
32	chr8:8928800-8931800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:8928800-8932000	Weak transcription	NH-A	brain
34	chr8:8929000-8930800	Enhancers	Rectal Smooth Muscle	rectum
35	chr8:8929200-8932000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:8929200-8932000	Weak transcription	Adipose Nuclei	Adipose
37	chr8:8929400-8930600	Weak transcription	Ovary	ovary
38	chr8:8929400-8930800	Weak transcription	HUVEC	blood vessel
39	chr8:8929400-8932000	Weak transcription	NHDF-Ad	bronchial
40	chr8:8929400-8932400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:8929600-8930200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:8929600-8930600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:8929600-8940000	Weak transcription	Aorta	Aorta
44	chr8:8929800-8930200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:8929800-8930200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:8929800-8930200	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:8930000-8932000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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