Variant report

Variant	rs6499329
Chromosome Location	chr16:70673577-70673578
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11865702	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12051132	0.88[ASN][1000 genomes]
rs12596022	0.86[ASN][1000 genomes]
rs12596821	0.85[ASN][1000 genomes]
rs12596851	0.86[ASN][1000 genomes]
rs12596861	0.84[ASN][1000 genomes]
rs12596931	0.89[ASN][1000 genomes]
rs12599245	0.89[ASN][1000 genomes]
rs12708905	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12917749	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12924106	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12928124	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13330163	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1993448	0.82[ASN][1000 genomes]
rs2864754	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34538878	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34878593	0.83[ASN][1000 genomes]
rs3813904	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985412	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985539	0.88[ASN][1000 genomes]
rs4985540	0.88[ASN][1000 genomes]
rs4985548	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985555	0.87[ASN][1000 genomes]
rs6499328	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6499330	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7193968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792838	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8053536	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8061569	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8061854	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70666000-70679000	Weak transcription	Spleen	Spleen
2	chr16:70669400-70679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:70669600-70674600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:70669600-70679000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:70669600-70679400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:70669600-70687800	Weak transcription	Right Atrium	heart
7	chr16:70670600-70675200	Weak transcription	HUVEC	blood vessel
8	chr16:70670600-70680000	Weak transcription	Fetal Intestine Small	intestine
9	chr16:70672400-70673800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:70672600-70673600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:70672600-70673800	Enhancers	Fetal Stomach	stomach
12	chr16:70672600-70673800	Enhancers	NHEK	skin
13	chr16:70672800-70673600	Enhancers	Esophagus	oesophagus
14	chr16:70672800-70673600	Enhancers	Rectal Smooth Muscle	rectum
15	chr16:70672800-70673600	Enhancers	HSMMtube	muscle
16	chr16:70672800-70673600	Enhancers	NHDF-Ad	bronchial
17	chr16:70672800-70673800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:70672800-70674000	Enhancers	Osteobl	bone
19	chr16:70673000-70673600	Enhancers	Brain Anterior Caudate	brain
20	chr16:70673000-70673600	Enhancers	Duodenum Mucosa	Duodenum
21	chr16:70673000-70673800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr16:70673000-70673800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:70673000-70673800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr16:70673000-70674200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr16:70673000-70674200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:70673200-70673600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr16:70673200-70673600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr16:70673200-70673600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:70673200-70673600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr16:70673200-70673600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:70673200-70673600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr16:70673200-70673600	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr16:70673200-70673600	Enhancers	Brain Cingulate Gyrus	brain
34	chr16:70673200-70673600	Enhancers	Brain Hippocampus Middle	brain
35	chr16:70673200-70673600	Enhancers	Fetal Heart	heart
36	chr16:70673200-70673600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr16:70673200-70673800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:70673200-70673800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr16:70673200-70673800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr16:70673200-70673800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr16:70673200-70674000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr16:70673200-70674200	Enhancers	HepG2	liver
43	chr16:70673400-70673600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:70673400-70673600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr16:70673400-70673600	Enhancers	NH-A	brain
46	chr16:70673400-70673800	Enhancers	Brain Substantia Nigra	brain
47	chr16:70673400-70673800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr16:70673400-70674000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr16:70673400-70674200	Enhancers	Brain Germinal Matrix	brain

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