Variant report

Variant	rs72727712
Chromosome Location	chr1:185532815-185532816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10911754	0.91[EUR][1000 genomes]
rs10911755	0.91[EUR][1000 genomes]
rs10911756	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11576129	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11576884	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11581960	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583193	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586588	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11586605	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12029108	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12046138	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12048982	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402146	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402607	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1321998	0.91[EUR][1000 genomes]
rs1321999	0.91[EUR][1000 genomes]
rs2295792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28776539	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35495151	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41453048	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56164019	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56822355	0.92[EUR][1000 genomes]
rs57836721	0.91[EUR][1000 genomes]
rs58848006	0.91[EUR][1000 genomes]
rs6701720	0.82[ASN][1000 genomes]
rs72726098	0.91[EUR][1000 genomes]
rs72727706	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72727717	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727728	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74132957	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7518777	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 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	chr1:185521000-185533800	Weak transcription	Placenta	Placenta
2	chr1:185525400-185536000	Weak transcription	Stomach Mucosa	stomach
3	chr1:185526400-185533800	Weak transcription	Osteobl	bone
4	chr1:185528000-185536000	Weak transcription	Fetal Kidney	kidney
5	chr1:185528600-185533000	Enhancers	Primary T cells from cord blood	blood
6	chr1:185528600-185539800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:185529200-185535400	Weak transcription	Small Intestine	intestine
8	chr1:185529400-185533200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:185529400-185533800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:185529400-185534000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:185529400-185534000	Weak transcription	Fetal Heart	heart
12	chr1:185529400-185543000	Weak transcription	Pancreas	Pancrea
13	chr1:185529600-185535800	Weak transcription	Fetal Intestine Large	intestine
14	chr1:185530400-185535000	Weak transcription	Primary B cells from cord blood	blood
15	chr1:185530400-185535400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:185530400-185536000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:185530800-185533000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:185530800-185533400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:185530800-185535800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:185530800-185536600	Weak transcription	Left Ventricle	heart
21	chr1:185530800-185544000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:185531000-185534600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:185531000-185535200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:185531000-185535800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:185531200-185533000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:185531200-185533000	Weak transcription	HMEC	breast
27	chr1:185531200-185534400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:185531200-185536000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:185531400-185533000	Weak transcription	NHEK	skin
30	chr1:185531400-185534400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:185531400-185534600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:185531400-185534600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:185531600-185534600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:185531600-185534600	Weak transcription	Fetal Thymus	thymus
35	chr1:185531800-185533200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:185531800-185533400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:185531800-185533400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:185531800-185534400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:185531800-185534800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:185531800-185540400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:185532000-185533800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:185532000-185534400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:185532200-185536200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:185532400-185533600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:185532400-185534000	Weak transcription	Thymus	Thymus
46	chr1:185532400-185534400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:185532800-185533200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:185532800-185533200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:185532800-185538800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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