Variant report

Variant	rs72708818
Chromosome Location	chr1:160490861-160490862
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11265424	0.83[EUR][1000 genomes]
rs11577695	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11583402	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11585738	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11590035	0.86[ASN][1000 genomes]
rs17381453	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17385337	0.83[EUR][1000 genomes]
rs17385407	0.83[EUR][1000 genomes]
rs3733264	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3733265	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3766385	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4145897	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55917218	0.83[EUR][1000 genomes]
rs56040770	0.86[ASN][1000 genomes]
rs61802603	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61802604	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61802605	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61802606	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61802608	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61802610	0.83[ASN][1000 genomes]
rs6670721	0.86[ASN][1000 genomes]
rs6697596	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6699346	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67197441	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72708832	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7418241	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7539982	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[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	esv1829614	chr1:160465291-160595000	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv872491	chr1:160470258-160580549	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160488600-160493000	Enhancers	Primary hematopoietic stem cells	blood
2	chr1:160488800-160491000	Enhancers	Dnd41	blood
3	chr1:160488800-160492000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:160489000-160491000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:160489000-160491800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:160489000-160491800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr1:160489000-160492400	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr1:160489000-160492600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:160489200-160491000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:160489200-160491200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:160489200-160491800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:160489200-160492800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:160489200-160493400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr1:160489400-160491600	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr1:160489400-160493200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr1:160489600-160491200	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr1:160489800-160491000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:160489800-160491600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:160489800-160492600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr1:160489800-160492600	Enhancers	K562	blood
21	chr1:160490000-160492400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:160490000-160492400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr1:160490000-160493000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr1:160490000-160493200	Flanking Active TSS	Fetal Thymus	thymus
25	chr1:160490200-160491000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:160490200-160491000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:160490200-160491000	Enhancers	Placenta	Placenta
28	chr1:160490200-160491000	Enhancers	NHEK	skin
29	chr1:160490200-160491400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:160490200-160492600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:160490200-160492600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:160490200-160493000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:160490200-160493000	Active TSS	Duodenum Mucosa	Duodenum
34	chr1:160490400-160491000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:160490400-160491000	Enhancers	Stomach Mucosa	stomach
36	chr1:160490400-160491000	Active TSS	A549	lung
37	chr1:160490400-160491200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:160490400-160491200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:160490400-160491800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr1:160490400-160493200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:160490600-160491000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr1:160490600-160493000	Flanking Active TSS	Thymus	Thymus
43	chr1:160490600-160493200	Active TSS	GM12878-XiMat	blood
44	chr1:160490800-160491000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:160490800-160491000	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr1:160490800-160491000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr1:160490800-160491200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr1:160490800-160491200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:160490800-160491400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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