Variant report

Variant	rs12934353
Chromosome Location	chr16:81816069-81816070
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81815474..81817906-chr16:81818108..81820876,3	K562	blood:

Variant related genes	Relation type
ENSG00000197943	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11642139	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11861147	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11866195	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4281705	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4354929	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4476174	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4480797	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4561462	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4577082	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4580154	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6564920	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7499585	0.81[EUR][1000 genomes]
rs8045964	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8047206	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8052218	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9944386	0.84[EUR][1000 genomes]
rs9944387	0.83[EUR][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	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
2	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81813800-81816400	Weak transcription	Lung	lung
2	chr16:81813800-81817200	Weak transcription	Left Ventricle	heart
3	chr16:81813800-81817800	Weak transcription	Right Atrium	heart
4	chr16:81814000-81816400	Weak transcription	Small Intestine	intestine
5	chr16:81814000-81817200	Weak transcription	Liver	Liver
6	chr16:81814000-81817600	Weak transcription	Gastric	stomach
7	chr16:81814200-81816200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr16:81814200-81816400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr16:81814200-81816400	Weak transcription	Pancreas	Pancrea
10	chr16:81814200-81816400	Weak transcription	Spleen	Spleen
11	chr16:81814200-81818200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr16:81814200-81818200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:81814200-81818400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:81814400-81816400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr16:81814400-81816800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr16:81814400-81817200	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr16:81814400-81831800	Weak transcription	Adipose Nuclei	Adipose
18	chr16:81814600-81818000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr16:81814800-81817800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:81814800-81818200	Enhancers	Primary hematopoietic stem cells	blood
21	chr16:81815200-81818600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:81815200-81830000	Weak transcription	Esophagus	oesophagus
23	chr16:81815400-81817000	Enhancers	Primary B cells from cord blood	blood
24	chr16:81815400-81830600	Weak transcription	Thymus	Thymus
25	chr16:81815800-81816800	Flanking Active TSS	GM12878-XiMat	blood
26	chr16:81816000-81816200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr16:81816000-81817400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:81816000-81818400	Enhancers	Duodenum Smooth Muscle	Duodenum

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