Variant report

Variant	rs3799591
Chromosome Location	chr6:167012114-167012115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12528284	0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12661452	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2032544	0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2032545	0.88[CEU][hapmap];0.90[CHB][hapmap];0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34324183	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35574615	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35798186	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3778379	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3778380	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3778381	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3778383	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3799578	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3799579	0.88[CEU][hapmap];0.90[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3799581	0.88[CEU][hapmap];0.90[CHB][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3799582	0.88[CEU][hapmap];0.90[CHB][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3799589	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3799590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799592	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799593	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799594	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3799595	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3799596	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3799599	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3799601	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3823196	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823197	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823198	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs6907098	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6907443	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs763193	0.90[CHB][hapmap]
rs9295356	0.88[CEU][hapmap];0.90[CHB][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9347138	0.88[CEU][hapmap];0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9348149	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9355586	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9356491	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9356493	0.88[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9356494	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9366031	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9366033	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs960145	0.89[CHB][hapmap];0.84[ASN][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	nsv1029530	chr6:166977678-167016052	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167002600-167013200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:167003600-167013000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:167004200-167012200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:167006000-167012400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:167008000-167012600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:167008200-167013000	Enhancers	HSMM	muscle
7	chr6:167008200-167013000	Enhancers	NHDF-Ad	bronchial
8	chr6:167008800-167013800	Enhancers	Right Ventricle	heart
9	chr6:167009200-167013200	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:167009400-167015800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:167009600-167014200	Weak transcription	HMEC	breast
12	chr6:167009600-167014800	Enhancers	NH-A	brain
13	chr6:167009800-167012200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:167009800-167012200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:167010200-167014000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:167010200-167014000	Enhancers	Lung	lung
17	chr6:167010400-167012600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:167010400-167013800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:167010600-167012200	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr6:167010600-167014000	Enhancers	Left Ventricle	heart
21	chr6:167010800-167013000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:167010800-167013200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:167010800-167013200	Enhancers	Primary hematopoietic stem cells	blood
24	chr6:167010800-167013600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:167010800-167013600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:167010800-167014000	Enhancers	Adipose Nuclei	Adipose
27	chr6:167011000-167013000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:167011000-167013000	Weak transcription	Pancreas	Pancrea
29	chr6:167011000-167013200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:167011000-167013200	Weak transcription	Esophagus	oesophagus
31	chr6:167011000-167013200	Weak transcription	Gastric	stomach
32	chr6:167011000-167013200	Weak transcription	Psoas Muscle	Psoas
33	chr6:167011000-167013400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr6:167011000-167013400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:167011000-167013600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:167011000-167013600	Enhancers	Brain Angular Gyrus	brain
37	chr6:167011000-167016800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr6:167011000-167021000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:167011200-167012200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr6:167011200-167012200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:167011200-167012200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr6:167011200-167012400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:167011200-167013800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr6:167011200-167013800	Enhancers	HSMMtube	muscle
45	chr6:167011400-167012200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr6:167011400-167012200	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr6:167011400-167012200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr6:167011400-167012400	Weak transcription	Small Intestine	intestine
49	chr6:167011400-167012600	Enhancers	Ovary	ovary
50	chr6:167011400-167012800	Enhancers	HUES64 Cell Line	embryonic stem cell

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