Variant report

Variant	rs10085952
Chromosome Location	chr8:8506501-8506502
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10102100	0.83[ASN][1000 genomes]
rs10108056	0.86[JPT][hapmap]
rs12550829	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12675306	0.90[ASN][1000 genomes]
rs1547559	0.81[ASN][1000 genomes]
rs17154523	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1972312	0.83[ASN][1000 genomes]
rs28541872	0.94[ASN][1000 genomes]
rs4841006	0.83[ASN][1000 genomes]
rs57249973	0.91[ASN][1000 genomes]
rs61040371	0.83[ASN][1000 genomes]
rs6981638	0.88[ASN][1000 genomes]
rs6986287	0.85[ASN][1000 genomes]
rs6996523	0.88[ASN][1000 genomes]
rs7007564	0.83[ASN][1000 genomes]
rs7834476	0.88[ASN][1000 genomes]
rs7837444	0.86[ASN][1000 genomes]
rs940028	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv1016933	chr8:8432279-8624770	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv610180	chr8:8501230-8543324	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10085952	PPP1R3B	cis	cerebellum	SCAN
rs10085952	TDH	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8489200-8513000	Weak transcription	Gastric	stomach
2	chr8:8498000-8506600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:8501000-8512000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:8503400-8506600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:8504400-8506600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:8504400-8506800	Enhancers	Ovary	ovary
7	chr8:8504600-8507400	Enhancers	Fetal Muscle Leg	muscle
8	chr8:8504800-8506800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:8504800-8507000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:8504800-8507000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:8504800-8507000	Weak transcription	Fetal Brain Male	brain
12	chr8:8504800-8507200	Enhancers	NHLF	lung
13	chr8:8505000-8506600	Weak transcription	Lung	lung
14	chr8:8505000-8507000	Enhancers	Adipose Nuclei	Adipose
15	chr8:8505000-8513000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:8506000-8506800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:8506000-8506800	Enhancers	NH-A	brain
18	chr8:8506000-8506800	Enhancers	Osteobl	bone
19	chr8:8506000-8507000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:8506000-8507200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:8506000-8507200	Enhancers	HSMMtube	muscle
22	chr8:8506000-8507600	Enhancers	Fetal Kidney	kidney
23	chr8:8506000-8507800	Enhancers	Fetal Intestine Small	intestine
24	chr8:8506200-8506600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:8506200-8506800	Flanking Active TSS	Fetal Lung	lung
26	chr8:8506200-8506800	Enhancers	HSMM	muscle
27	chr8:8506200-8507000	Flanking Active TSS	NHDF-Ad	bronchial
28	chr8:8506200-8507200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:8506200-8507200	Enhancers	Fetal Stomach	stomach
30	chr8:8506200-8507400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:8506200-8507600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:8506200-8507600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:8506200-8507600	Enhancers	Brain Germinal Matrix	brain
34	chr8:8506200-8507600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr8:8506200-8507800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:8506200-8507800	Enhancers	HMEC	breast
37	chr8:8506200-8508000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:8506200-8508200	Enhancers	Fetal Intestine Large	intestine
39	chr8:8506400-8506800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:8506400-8506800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr8:8506400-8506800	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr8:8506400-8506800	Enhancers	Right Atrium	heart
43	chr8:8506400-8507000	Enhancers	A549	lung
44	chr8:8506400-8507200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:8506400-8507200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:8506400-8507200	Enhancers	Fetal Muscle Trunk	muscle
47	chr8:8506400-8507400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:8506400-8507400	Enhancers	Brain Anterior Caudate	brain
49	chr8:8506400-8507400	Enhancers	Pancreas	Pancrea
50	chr8:8506400-8507400	Bivalent Enhancer	HepG2	liver

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