Variant report

Variant	rs6939254
Chromosome Location	chr6:167004392-167004393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1476045	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6900800	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9457188	0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166989000-167011400	Weak transcription	Ovary	ovary
2	chr6:166995000-167008400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:166997200-167006000	Weak transcription	Aorta	Aorta
4	chr6:166998000-167011200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:167000000-167004400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:167000200-167004600	Enhancers	Primary B cells from peripheral blood	blood
7	chr6:167000600-167004400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:167000600-167004600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:167000800-167006200	Enhancers	Fetal Heart	heart
10	chr6:167001200-167004800	Enhancers	Fetal Muscle Trunk	muscle
11	chr6:167001400-167004800	Enhancers	Brain Anterior Caudate	brain
12	chr6:167001600-167004400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:167001800-167004400	Enhancers	Brain Angular Gyrus	brain
14	chr6:167001800-167004600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:167001800-167004600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr6:167001800-167005000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:167001800-167005400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:167002200-167005200	Enhancers	Left Ventricle	heart
19	chr6:167002200-167005400	Enhancers	Right Ventricle	heart
20	chr6:167002200-167006600	Enhancers	Psoas Muscle	Psoas
21	chr6:167002400-167004800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:167002600-167005400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:167002600-167011400	Weak transcription	Right Atrium	heart
24	chr6:167002600-167013200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:167003000-167009000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:167003000-167010400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:167003000-167010800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:167003200-167004800	Enhancers	Primary B cells from cord blood	blood
29	chr6:167003200-167004800	Enhancers	Esophagus	oesophagus
30	chr6:167003200-167006400	Weak transcription	Primary T cells from cord blood	blood
31	chr6:167003200-167009600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:167003200-167011200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:167003200-167011200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:167003400-167004600	Enhancers	GM12878-XiMat	blood
35	chr6:167003400-167005800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:167003400-167005800	Enhancers	Lung	lung
37	chr6:167003400-167009000	Weak transcription	Colon Smooth Muscle	Colon
38	chr6:167003600-167004400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:167003600-167004600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:167003600-167005400	Weak transcription	HSMMtube	muscle
41	chr6:167003600-167008200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:167003600-167008200	Weak transcription	NHDF-Ad	bronchial
43	chr6:167003600-167008800	Weak transcription	HMEC	breast
44	chr6:167003600-167010400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:167003600-167011600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:167003600-167013000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:167003800-167004600	Weak transcription	NHLF	lung
48	chr6:167003800-167004800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:167003800-167005000	Enhancers	Pancreas	Pancrea
50	chr6:167003800-167005400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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