Variant report

Variant	rs68118517
Chromosome Location	chr16:81868081-81868082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81866737..81868988-chr16:81871902..81873783,2	MCF-7	breast:
2	chr16:81868079..81870881-chr16:81878026..81880776,2	K562	blood:

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	0.83[AMR][1000 genomes]
rs56019161	0.83[AMR][1000 genomes]
rs56134131	1.00[ASN][1000 genomes]
rs57963515	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61635216	1.00[ASN][1000 genomes]
rs6564925	1.00[ASN][1000 genomes]
rs67174651	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67283254	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7194131	0.94[AMR][1000 genomes];0.98[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	0.97[AMR][1000 genomes];0.99[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81850800-81868200	Weak transcription	Esophagus	oesophagus
2	chr16:81858800-81878800	Weak transcription	Fetal Intestine Small	intestine
3	chr16:81861600-81871800	Enhancers	Primary hematopoietic stem cells	blood
4	chr16:81864600-81869600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr16:81865200-81874200	Weak transcription	Pancreas	Pancrea
6	chr16:81865400-81872800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr16:81865600-81868200	Enhancers	Placenta	Placenta
8	chr16:81865800-81868800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr16:81865800-81876600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:81866200-81868400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr16:81866200-81869800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:81866400-81870000	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr16:81866600-81868200	Genic enhancers	Spleen	Spleen
14	chr16:81866600-81870400	Weak transcription	Adipose Nuclei	Adipose
15	chr16:81866800-81868800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:81866800-81869400	Genic enhancers	GM12878-XiMat	blood
17	chr16:81866800-81869600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr16:81866800-81871000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr16:81866800-81873800	Weak transcription	Lung	lung
20	chr16:81866800-81875600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr16:81866800-81898600	Weak transcription	Right Atrium	heart
22	chr16:81867000-81869800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr16:81867000-81869800	Weak transcription	Fetal Thymus	thymus
24	chr16:81867400-81868200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr16:81867400-81868400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:81867600-81869400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr16:81867600-81873000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr16:81867800-81868200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr16:81867800-81869400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr16:81868000-81868200	Enhancers	Colonic Mucosa	Colon
31	chr16:81868000-81869800	Enhancers	Primary B cells from cord blood	blood
32	chr16:81868000-81872800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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