Variant report

Variant	rs1067705
Chromosome Location	chr5:127040612-127040613
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1002214	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10066288	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10067219	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1086479	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1092294	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1213745	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13155734	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1356121	0.81[AMR][1000 genomes]
rs1432641	0.81[AMR][1000 genomes]
rs1432642	0.81[AMR][1000 genomes]
rs1464132	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1616107	0.81[AMR][1000 genomes]
rs2673765	0.87[YRI][hapmap]
rs2673770	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6878186	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs711361	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs711362	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs711363	0.95[CEU][hapmap]
rs711364	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs711366	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs711367	0.80[EUR][1000 genomes]
rs711369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7729013	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs790829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs790834	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs790839	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs790840	0.84[EUR][1000 genomes]
rs790841	0.80[EUR][1000 genomes]
rs796919	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs806464	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs810996	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1798341	chr5:127038316-127061310	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127032800-127040800	Weak transcription	NHDF-Ad	bronchial
2	chr5:127033000-127041000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:127034200-127040800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:127034200-127041000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:127035800-127041000	Weak transcription	Fetal Lung	lung
6	chr5:127035800-127041200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:127036400-127041000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:127038400-127041600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:127038400-127041600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:127038400-127041800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:127038600-127041800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:127038800-127041000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:127039200-127041000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:127039200-127041200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:127039200-127041200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:127039200-127041600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:127039600-127040800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:127039800-127040800	Weak transcription	A549	lung
19	chr5:127039800-127041000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:127039800-127041000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:127040400-127041800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:127040600-127041000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:127040600-127041000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:127040600-127041400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:127040600-127041400	Enhancers	Primary hematopoietic stem cells	blood
26	chr5:127040600-127041400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr5:127040600-127041400	Enhancers	Osteobl	bone
28	chr5:127040600-127041600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr5:127040600-127041800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:127040600-127041800	Enhancers	Adipose Nuclei	Adipose
31	chr5:127040600-127041800	Enhancers	NHLF	lung
32	chr5:127040600-127042000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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