Variant report

Variant	rs6684766
Chromosome Location	chr1:85528483-85528484
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10782538	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs11161516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs17099213	0.92[CHB][hapmap]
rs17119333	1.00[CHB][hapmap]
rs17119338	1.00[CHB][hapmap]
rs17120570	0.92[CHB][hapmap]
rs41383647	1.00[CHB][hapmap]
rs41461649	1.00[CHB][hapmap]
rs4907127	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap]
rs4907130	0.90[CEU][hapmap];0.83[CHB][hapmap]
rs4907131	0.90[CEU][hapmap];0.83[CHB][hapmap]
rs6576745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs6576747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs6681402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6681619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6695223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs6697585	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs7527292	0.90[CEU][hapmap]
rs7529904	1.00[CHB][hapmap]
rs898035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][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	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh 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	9 gene(s)	inside rSNPs	diseases
2	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers 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
4	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85527400-85528600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:85527400-85528600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:85527400-85528600	Active TSS	Fetal Kidney	kidney
4	chr1:85527400-85528600	Active TSS	A549	lung
5	chr1:85527400-85528800	Active TSS	Brain Anterior Caudate	brain
6	chr1:85527400-85528800	Active TSS	NH-A	brain
7	chr1:85527400-85529000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:85527600-85528600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:85527600-85528600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:85527600-85528600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr1:85527600-85528600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:85527600-85528600	Active TSS	Stomach Smooth Muscle	stomach
13	chr1:85527600-85529000	Flanking Active TSS	Osteobl	bone
14	chr1:85527800-85528600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:85527800-85528600	Active TSS	Fetal Brain Male	brain
16	chr1:85527800-85528600	Active TSS	Right Atrium	heart
17	chr1:85527800-85528800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:85528000-85528600	Flanking Active TSS	Fetal Lung	lung
19	chr1:85528000-85528600	Flanking Active TSS	NHEK	skin
20	chr1:85528000-85528800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr1:85528200-85528600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:85528200-85528600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr1:85528200-85528600	Flanking Active TSS	Fetal Heart	heart
24	chr1:85528200-85528600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr1:85528200-85528600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr1:85528200-85528800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:85528200-85528800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:85528200-85528800	Flanking Active TSS	HMEC	breast
29	chr1:85528200-85528800	Flanking Active TSS	NHDF-Ad	bronchial
30	chr1:85528200-85529000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:85528400-85528600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr1:85528400-85528600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
33	chr1:85528400-85528600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:85528400-85528600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr1:85528400-85528600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr1:85528400-85528600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr1:85528400-85528600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:85528400-85528600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:85528400-85528600	Enhancers	Adipose Nuclei	Adipose
40	chr1:85528400-85528600	Enhancers	Brain Cingulate Gyrus	brain
41	chr1:85528400-85528600	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr1:85528400-85528600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:85528400-85528600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr1:85528400-85528600	Active TSS	GM12878-XiMat	blood
45	chr1:85528400-85528600	Bivalent Enhancer	HUVEC	blood vessel
46	chr1:85528400-85528600	Flanking Active TSS	NHLF	lung
47	chr1:85528400-85528800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:85528400-85528800	Enhancers	Duodenum Mucosa	Duodenum
49	chr1:85528400-85528800	Enhancers	Rectal Smooth Muscle	rectum
50	chr1:85528400-85529000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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