Variant report

Variant	rs72718735
Chromosome Location	chr1:85328625-85328626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55800555	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56377436	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72716999	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9324142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85289400-85330800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:85313000-85332800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:85313600-85330600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:85313600-85357200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:85314000-85330400	Weak transcription	Pancreas	Pancrea
6	chr1:85315600-85336400	Weak transcription	Right Ventricle	heart
7	chr1:85319400-85336400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:85320600-85354800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:85321000-85342800	Weak transcription	Right Atrium	heart
10	chr1:85321800-85332400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:85322800-85355800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:85324400-85342000	Weak transcription	Left Ventricle	heart
13	chr1:85326000-85329800	Weak transcription	Fetal Heart	heart
14	chr1:85326200-85335000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:85326600-85328800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr1:85326800-85328800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:85326800-85328800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr1:85326800-85329200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:85327000-85328800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:85327200-85328800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:85327200-85328800	Enhancers	Liver	Liver
22	chr1:85327200-85329200	Enhancers	Thymus	Thymus
23	chr1:85327400-85329600	Enhancers	Fetal Thymus	thymus
24	chr1:85327400-85357400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:85328000-85329400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:85328000-85329800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:85328200-85329000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:85328200-85329200	Enhancers	HMEC	breast
29	chr1:85328200-85329400	Enhancers	Primary B cells from peripheral blood	blood
30	chr1:85328200-85329400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr1:85328200-85329400	Enhancers	Dnd41	blood
32	chr1:85328200-85329600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:85328400-85328800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:85328400-85329200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr1:85328400-85329400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr1:85328400-85329400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr1:85328400-85329400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr1:85328400-85329600	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr1:85328400-85331600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:85328400-85332200	Strong transcription	NHEK	skin
41	chr1:85328600-85329000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:85328600-85329000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr1:85328600-85329000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:85328600-85329400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr1:85328600-85329600	Enhancers	GM12878-XiMat	blood

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