Variant report

Variant	rs701698
Chromosome Location	chr6:72179118-72179119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10155718	0.99[EUR][1000 genomes]
rs1738070	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1738072	0.95[ASN][1000 genomes]
rs4141421	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472572	0.85[EUR][1000 genomes]
rs472935	0.84[EUR][1000 genomes]
rs478959	0.84[EUR][1000 genomes]
rs493265	0.84[EUR][1000 genomes]
rs494938	0.84[EUR][1000 genomes]
rs495002	0.84[EUR][1000 genomes]
rs504139	0.84[EUR][1000 genomes]
rs537876	0.85[EUR][1000 genomes]
rs543625	0.85[EUR][1000 genomes]
rs558116	0.84[EUR][1000 genomes]
rs573317	0.99[EUR][1000 genomes]
rs701699	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852919	0.99[EUR][1000 genomes]
rs852920	0.99[EUR][1000 genomes]
rs852923	0.99[EUR][1000 genomes]
rs852924	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs852926	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs852927	0.99[EUR][1000 genomes]
rs852928	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852929	0.97[ASN][1000 genomes]
rs852930	0.97[ASN][1000 genomes]
rs852931	0.97[ASN][1000 genomes]
rs852962	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs852966	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 gene(s)	inside rSNPs	diseases
2	nsv1025409	chr6:72175998-72205044	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72177800-72179400	Enhancers	Fetal Lung	lung
2	chr6:72177800-72179800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:72178000-72179800	Enhancers	NHLF	lung
4	chr6:72178200-72179200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:72178200-72179200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:72178200-72179400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:72178200-72179400	Flanking Active TSS	NH-A	brain
8	chr6:72178200-72179400	Flanking Active TSS	Osteobl	bone
9	chr6:72178200-72179600	Enhancers	Fetal Kidney	kidney
10	chr6:72178200-72179600	Enhancers	HMEC	breast
11	chr6:72178200-72179800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr6:72178400-72179200	Active TSS	HSMMtube	muscle
13	chr6:72178400-72179400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:72178400-72179400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:72178400-72179400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr6:72178400-72179400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:72178600-72179200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:72178600-72179200	Enhancers	Adipose Nuclei	Adipose
19	chr6:72178600-72179400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:72178600-72179400	Enhancers	NHEK	skin
21	chr6:72178600-72179600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:72178600-72187800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:72178800-72179200	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr6:72178800-72179200	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr6:72178800-72179400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:72178800-72179400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:72178800-72179400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:72178800-72179400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr6:72178800-72179400	Flanking Active TSS	HSMM	muscle
30	chr6:72178800-72180000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:72178800-72181200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:72179000-72179400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:72179000-72179400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:72179000-72179600	Enhancers	Aorta	Aorta
35	chr6:72179000-72180000	Enhancers	NHDF-Ad	bronchial

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