Variant report

Variant	rs57963515
Chromosome Location	chr16:81866570-81866571
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs13335168	1.00[ASN][1000 genomes]
rs28546769	1.00[ASN][1000 genomes]
rs28550771	1.00[ASN][1000 genomes]
rs28609062	1.00[ASN][1000 genomes]
rs28731296	1.00[ASN][1000 genomes]
rs55833904	1.00[ASN][1000 genomes]
rs55997054	0.80[AMR][1000 genomes]
rs56019161	0.80[AMR][1000 genomes]
rs56134131	1.00[ASN][1000 genomes]
rs61635216	1.00[ASN][1000 genomes]
rs6564925	1.00[ASN][1000 genomes]
rs67174651	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67283254	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68118517	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7194131	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204645	1.00[ASN][1000 genomes]
rs72832045	1.00[ASN][1000 genomes]
rs72832046	1.00[ASN][1000 genomes]
rs72832048	1.00[ASN][1000 genomes]
rs72832051	1.00[ASN][1000 genomes]
rs72832057	1.00[ASN][1000 genomes]
rs72832061	1.00[ASN][1000 genomes]
rs72832066	1.00[ASN][1000 genomes]
rs72832068	1.00[ASN][1000 genomes]
rs72832071	1.00[ASN][1000 genomes]
rs72832080	1.00[ASN][1000 genomes]
rs8044282	1.00[ASN][1000 genomes]
rs8059316	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8061071	1.00[ASN][1000 genomes]
rs9922196	1.00[ASN][1000 genomes]
rs9923151	1.00[ASN][1000 genomes]
rs9932427	1.00[ASN][1000 genomes]
rs9940462	1.00[ASN][1000 genomes]
rs9940492	1.00[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	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
3	nsv1061544	chr16:81834313-81877375	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 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	chr16:81850800-81868200	Weak transcription	Esophagus	oesophagus
2	chr16:81857200-81867400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:81858800-81867400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:81858800-81878800	Weak transcription	Fetal Intestine Small	intestine
5	chr16:81861600-81871800	Enhancers	Primary hematopoietic stem cells	blood
6	chr16:81864400-81866600	Enhancers	Spleen	Spleen
7	chr16:81864400-81866800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr16:81864400-81866800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
9	chr16:81864400-81867000	Enhancers	Fetal Thymus	thymus
10	chr16:81864600-81866800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr16:81864600-81866800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr16:81864600-81867600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr16:81864600-81869600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr16:81864800-81866800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:81865000-81866600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr16:81865200-81874200	Weak transcription	Pancreas	Pancrea
17	chr16:81865400-81872800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr16:81865600-81868200	Enhancers	Placenta	Placenta
19	chr16:81865800-81866600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr16:81865800-81866800	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr16:81865800-81867600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr16:81865800-81868800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr16:81865800-81876600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:81866000-81866800	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr16:81866200-81867000	Enhancers	Duodenum Mucosa	Duodenum
26	chr16:81866200-81867400	Enhancers	Primary B cells from cord blood	blood
27	chr16:81866200-81867400	Weak transcription	Thymus	Thymus
28	chr16:81866200-81868400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr16:81866200-81869800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:81866400-81866800	Enhancers	Lung	lung
31	chr16:81866400-81866800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr16:81866400-81866800	Enhancers	Right Atrium	heart
33	chr16:81866400-81867800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:81866400-81868000	Weak transcription	Colonic Mucosa	Colon
35	chr16:81866400-81870000	Genic enhancers	Primary B cells from peripheral blood	blood

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