Variant report

Variant	rs73014378
Chromosome Location	chr1:160490681-160490682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12033630	0.84[AMR][1000 genomes]
rs12034517	0.84[AMR][1000 genomes]
rs12036873	0.84[AMR][1000 genomes]
rs1553459	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1570707	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3737791	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3766386	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41266913	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56354572	0.84[AMR][1000 genomes]
rs60930426	0.84[AMR][1000 genomes]
rs6659886	0.84[AMR][1000 genomes]
rs73016361	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73016366	0.84[AMR][1000 genomes]
rs73016371	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73016376	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7543880	0.84[AMR][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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160488000-160490800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr1:160488600-160493000	Enhancers	Primary hematopoietic stem cells	blood
3	chr1:160488800-160491000	Enhancers	Dnd41	blood
4	chr1:160488800-160492000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:160489000-160491000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:160489000-160491800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:160489000-160491800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr1:160489000-160492400	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr1:160489000-160492600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:160489200-160490800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:160489200-160490800	Enhancers	Fetal Intestine Small	intestine
12	chr1:160489200-160491000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:160489200-160491200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:160489200-160491800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:160489200-160492800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:160489200-160493400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr1:160489400-160490800	Enhancers	Fetal Intestine Large	intestine
18	chr1:160489400-160491600	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr1:160489400-160493200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr1:160489600-160490800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:160489600-160491200	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr1:160489800-160490800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr1:160489800-160490800	Enhancers	HMEC	breast
24	chr1:160489800-160491000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:160489800-160491600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:160489800-160492600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr1:160489800-160492600	Enhancers	K562	blood
28	chr1:160490000-160490800	Enhancers	Hela-S3	cervix
29	chr1:160490000-160492400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:160490000-160492400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr1:160490000-160493000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr1:160490000-160493200	Flanking Active TSS	Fetal Thymus	thymus
33	chr1:160490200-160491000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:160490200-160491000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:160490200-160491000	Enhancers	Placenta	Placenta
36	chr1:160490200-160491000	Enhancers	NHEK	skin
37	chr1:160490200-160491400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:160490200-160492600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:160490200-160492600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:160490200-160493000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:160490200-160493000	Active TSS	Duodenum Mucosa	Duodenum
42	chr1:160490400-160490800	Active TSS	Primary T cells fromperipheralblood	blood
43	chr1:160490400-160491000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:160490400-160491000	Enhancers	Stomach Mucosa	stomach
45	chr1:160490400-160491000	Active TSS	A549	lung
46	chr1:160490400-160491200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:160490400-160491200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr1:160490400-160491800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:160490400-160493200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:160490600-160490800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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