Variant report

Variant	rs3799584
Chromosome Location	chr6:167019126-167019127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10214670	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12190451	0.91[JPT][hapmap];0.85[EUR][1000 genomes]
rs3778384	0.91[JPT][hapmap];0.86[TSI][hapmap]
rs3778385	0.90[CEU][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs3778386	0.84[GIH][hapmap];0.91[JPT][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes]
rs3799597	0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs3799598	0.81[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs3799600	0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs3799602	0.84[EUR][1000 genomes]
rs3799603	0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs4710069	0.85[CEU][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap]
rs4710070	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs4710071	0.90[CEU][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs6928849	0.90[CEU][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7742514	0.89[EUR][1000 genomes]
rs9295353	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs9457187	0.90[CEU][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	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
rs3799584	DSP	trans	parietal	SCAN
rs3799584	PHF10	cis	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167011000-167021000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:167012000-167023600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:167012200-167023400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:167012400-167025000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:167012400-167034400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:167012600-167025000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:167012600-167027600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:167012800-167027800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:167013200-167031000	Weak transcription	Fetal Intestine Small	intestine
10	chr6:167013400-167028800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:167013600-167027800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:167013600-167028200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:167013800-167022400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:167013800-167027000	Weak transcription	Esophagus	oesophagus
15	chr6:167013800-167027400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:167014000-167022200	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:167014000-167025200	Weak transcription	Right Atrium	heart
18	chr6:167014000-167028000	Weak transcription	Brain Anterior Caudate	brain
19	chr6:167014200-167023400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:167014200-167028400	Weak transcription	Stomach Mucosa	stomach
21	chr6:167014400-167027600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:167015000-167021000	Weak transcription	NHDF-Ad	bronchial
23	chr6:167015000-167028400	Weak transcription	Osteobl	bone
24	chr6:167015200-167021600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:167016000-167019400	Weak transcription	Pancreas	Pancrea
26	chr6:167016000-167021200	Weak transcription	Left Ventricle	heart
27	chr6:167016000-167022400	Weak transcription	Ovary	ovary
28	chr6:167016000-167027400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:167016000-167027800	Weak transcription	Brain Angular Gyrus	brain
30	chr6:167016000-167028200	Weak transcription	Gastric	stomach
31	chr6:167016000-167034400	Weak transcription	Aorta	Aorta
32	chr6:167016200-167019600	Weak transcription	NHLF	lung
33	chr6:167016200-167025800	Weak transcription	Spleen	Spleen
34	chr6:167016200-167028400	Weak transcription	NH-A	brain
35	chr6:167016600-167032800	Weak transcription	Colon Smooth Muscle	Colon
36	chr6:167016800-167030200	Weak transcription	Brain Germinal Matrix	brain
37	chr6:167017200-167019400	Weak transcription	Psoas Muscle	Psoas
38	chr6:167017200-167023600	Weak transcription	Fetal Muscle Leg	muscle
39	chr6:167017200-167023600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr6:167017200-167028600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:167017200-167032200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr6:167017400-167019200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:167017400-167019400	Weak transcription	Right Ventricle	heart
44	chr6:167017400-167021200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr6:167017400-167022400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr6:167017400-167025000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:167017400-167030400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:167017600-167021200	Weak transcription	Fetal Stomach	stomach
49	chr6:167017600-167028400	Weak transcription	HSMM	muscle
50	chr6:167018200-167020400	Enhancers	Lung	lung

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