Variant report

Variant	rs72799378
Chromosome Location	chr16:69554785-69554786
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69546010..69548545-chr16:69554522..69557315,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs11863900	1.00[ASN][1000 genomes]
rs11864904	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1437137	1.00[ASN][1000 genomes]
rs16958951	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958953	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17230557	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17230612	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17231138	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17231474	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297088	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297207	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17298718	1.00[ASN][1000 genomes]
rs45564335	1.00[ASN][1000 genomes]
rs55844704	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56043436	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56073658	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105992	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56127339	1.00[ASN][1000 genomes]
rs56170853	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56171157	1.00[ASN][1000 genomes]
rs56221028	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62057900	1.00[ASN][1000 genomes]
rs6499230	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499238	1.00[ASN][1000 genomes]
rs689453	1.00[ASN][1000 genomes]
rs689454	1.00[ASN][1000 genomes]
rs689461	1.00[ASN][1000 genomes]
rs7190756	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7193205	0.80[EUR][1000 genomes]
rs72783105	1.00[ASN][1000 genomes]
rs72783116	1.00[ASN][1000 genomes]
rs72783117	1.00[ASN][1000 genomes]
rs72783118	1.00[ASN][1000 genomes]
rs72783119	1.00[ASN][1000 genomes]
rs72783121	1.00[ASN][1000 genomes]
rs72783128	1.00[ASN][1000 genomes]
rs72783158	1.00[ASN][1000 genomes]
rs72783160	1.00[ASN][1000 genomes]
rs72783163	1.00[ASN][1000 genomes]
rs72799372	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72799373	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799385	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799386	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799387	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799393	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799394	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799398	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799400	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799402	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801305	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801307	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801308	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801312	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801314	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801315	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801317	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801318	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801319	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801320	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801321	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801322	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801323	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801325	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801326	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801328	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801330	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801332	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801333	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801337	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801338	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801339	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801344	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801347	1.00[ASN][1000 genomes]
rs72801350	1.00[ASN][1000 genomes]
rs72801352	1.00[ASN][1000 genomes]
rs72801354	1.00[ASN][1000 genomes]
rs8049366	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055148	1.00[ASN][1000 genomes]

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	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv906821	chr16:69509506-69576894	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69547600-69555400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr16:69548200-69554800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr16:69548200-69554800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:69548200-69563000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr16:69548600-69556600	Weak transcription	K562	blood
6	chr16:69549200-69560000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:69549600-69554800	Weak transcription	A549	lung
8	chr16:69549600-69563200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:69550000-69555000	Weak transcription	Hela-S3	cervix
10	chr16:69550000-69557000	Weak transcription	Placenta	Placenta
11	chr16:69552400-69563200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:69554200-69556800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:69554400-69555800	Flanking Active TSS	GM12878-XiMat	blood
14	chr16:69554600-69555000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:69554600-69555000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:69554600-69555200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:69554600-69555200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr16:69554600-69555400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:69554600-69555600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:69554600-69555600	Enhancers	NHEK	skin
21	chr16:69554600-69555800	Flanking Active TSS	HepG2	liver
22	chr16:69554600-69556200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr16:69554600-69556200	Enhancers	HSMMtube	muscle
24	chr16:69554600-69557000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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