Variant report

Variant	rs4985415
Chromosome Location	chr16:70673754-70673755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11865804	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11866403	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12596475	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12598251	0.82[ASN][1000 genomes]
rs12598456	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12598945	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12598955	0.89[ASN][1000 genomes]
rs12919296	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12919451	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12920334	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12920529	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12923477	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12923630	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12923637	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12924304	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12925493	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12926402	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12929463	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12929508	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12935541	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13329733	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16970408	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33998678	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34426756	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34644948	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34692833	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34811595	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34881169	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35283920	0.82[EUR][1000 genomes]
rs35285555	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35290416	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35381200	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35437297	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35794088	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36097154	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3813905	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4985413	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4985414	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4985546	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4985549	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4985550	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4985551	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4985552	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4985553	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55872380	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56220651	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57738457	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61170208	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68049363	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71401818	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7191249	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7192723	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7198170	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8060584	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8061329	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9933834	0.81[EUR][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:39 , 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	chr16:70672600-70673800	Enhancers	Fetal Stomach	stomach
11	chr16:70672600-70673800	Enhancers	NHEK	skin
12	chr16:70672800-70673800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:70672800-70674000	Enhancers	Osteobl	bone
14	chr16:70673000-70673800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr16:70673000-70673800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:70673000-70673800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:70673000-70674200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:70673000-70674200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:70673200-70673800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:70673200-70673800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr16:70673200-70673800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:70673200-70673800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr16:70673200-70674000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr16:70673200-70674200	Enhancers	HepG2	liver
25	chr16:70673400-70673800	Enhancers	Brain Substantia Nigra	brain
26	chr16:70673400-70673800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr16:70673400-70674000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr16:70673400-70674200	Enhancers	Brain Germinal Matrix	brain
29	chr16:70673600-70673800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:70673600-70673800	Enhancers	Brain Angular Gyrus	brain
31	chr16:70673600-70673800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr16:70673600-70674000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:70673600-70674000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr16:70673600-70674000	Enhancers	Stomach Smooth Muscle	stomach
35	chr16:70673600-70674200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:70673600-70680200	Weak transcription	Brain Anterior Caudate	brain
37	chr16:70673600-70680200	Weak transcription	HSMMtube	muscle
38	chr16:70673600-70683200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr16:70673600-70684000	Weak transcription	Esophagus	oesophagus

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