Variant report

Variant	rs72649921
Chromosome Location	chr1:210112077-210112078
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs1040424	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1040425	0.91[ASN][1000 genomes]
rs1040426	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10489346	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10779520	1.00[AFR][1000 genomes]
rs10779521	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10863800	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10863801	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10863806	1.00[AFR][1000 genomes]
rs10863809	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119371	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11119372	0.95[AMR][1000 genomes]
rs11119373	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11119377	0.81[AMR][1000 genomes]
rs11119384	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11119388	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11119391	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11119394	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11119398	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119401	0.82[AMR][1000 genomes]
rs11119403	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119417	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12057832	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12059828	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061641	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064990	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12065575	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12066358	1.00[AFR][1000 genomes]
rs12069592	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12073617	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078802	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12079916	1.00[EUR][1000 genomes]
rs12084199	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12085177	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12089327	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12089449	1.00[AFR][1000 genomes]
rs12092527	1.00[EUR][1000 genomes]
rs12094309	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12094626	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12354000	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12401574	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12403002	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12403098	1.00[AFR][1000 genomes]
rs12405519	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12405601	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12407647	0.93[AMR][1000 genomes]
rs12409047	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12409060	1.00[AFR][1000 genomes]
rs12409582	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12561877	0.87[EUR][1000 genomes]
rs12565072	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12565234	0.87[EUR][1000 genomes]
rs12565533	0.87[EUR][1000 genomes]
rs12566105	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12566314	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12567184	0.87[EUR][1000 genomes]
rs12567185	0.87[EUR][1000 genomes]
rs12569195	0.87[EUR][1000 genomes]
rs1387932	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17015564	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17015565	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17015566	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17015667	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2130625	1.00[AFR][1000 genomes]
rs2130629	1.00[AFR][1000 genomes]
rs28417505	1.00[AFR][1000 genomes]
rs4144930	0.87[EUR][1000 genomes]
rs4844501	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4844502	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4844507	1.00[AFR][1000 genomes]
rs4844509	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4844916	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4844923	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4844924	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4844928	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4844935	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4844936	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4844937	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4844938	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844939	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4844940	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844941	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844942	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844943	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844944	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844945	1.00[AFR][1000 genomes]
rs4844946	1.00[AFR][1000 genomes]
rs713114	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72649911	0.87[EUR][1000 genomes]
rs72649912	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72649913	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72649914	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72649920	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72649922	0.87[EUR][1000 genomes]
rs72649923	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72649924	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72649925	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72649926	0.87[EUR][1000 genomes]
rs72649928	0.87[EUR][1000 genomes]
rs72649929	0.87[EUR][1000 genomes]
rs72649930	0.87[EUR][1000 genomes]
rs72649931	0.87[EUR][1000 genomes]
rs72649932	0.87[EUR][1000 genomes]
rs72649933	0.87[EUR][1000 genomes]
rs72649934	0.87[EUR][1000 genomes]
rs72649935	0.87[EUR][1000 genomes]
rs72649936	0.87[EUR][1000 genomes]
rs72649937	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72649938	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72649939	0.87[EUR][1000 genomes]
rs72649940	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72649941	0.87[EUR][1000 genomes]
rs72649942	0.87[EUR][1000 genomes]
rs72649944	0.87[EUR][1000 genomes]
rs72649945	0.87[EUR][1000 genomes]
rs72649946	0.87[EUR][1000 genomes]
rs72649947	0.87[EUR][1000 genomes]
rs72649948	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72649949	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72649950	0.87[EUR][1000 genomes]
rs72649951	0.87[EUR][1000 genomes]
rs72649953	0.87[EUR][1000 genomes]
rs72649954	0.87[EUR][1000 genomes]
rs72649955	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs760768	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9787400	1.00[AFR][1000 genomes]
rs9919217	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1825811	chr1:210082206-210135806	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3438109	chr1:210110354-210112902	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210110200-210112400	Active TSS	Brain Anterior Caudate	brain
2	chr1:210110200-210112800	Active TSS	Brain Angular Gyrus	brain
3	chr1:210110400-210112400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:210110400-210112800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr1:210110400-210112800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:210110600-210112200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:210110600-210112200	Bivalent/Poised TSS	Osteobl	bone
8	chr1:210110600-210112400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:210110600-210112600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:210110600-210112800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:210110600-210113000	Active TSS	Fetal Brain Female	brain
12	chr1:210110600-210113200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:210110800-210112200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:210110800-210112200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:210110800-210112200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:210110800-210112200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr1:210110800-210112200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:210110800-210112400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr1:210110800-210112400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:210110800-210112400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:210111000-210112200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:210111000-210112200	Bivalent Enhancer	Lung	lung
23	chr1:210111000-210112400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:210111000-210112400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:210111000-210112400	Active TSS	Brain Substantia Nigra	brain
26	chr1:210111000-210112600	Active TSS	Brain Hippocampus Middle	brain
27	chr1:210111000-210112800	Active TSS	NH-A	brain
28	chr1:210111200-210112200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:210111200-210112200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:210111200-210112200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr1:210111200-210112800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr1:210111400-210112200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr1:210111400-210112200	Bivalent Enhancer	Left Ventricle	heart
34	chr1:210111400-210112200	ZNF genes & repeats	Spleen	Spleen
35	chr1:210111600-210112200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:210111600-210112200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
37	chr1:210111600-210112200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:210111600-210112200	Active TSS	Gastric	stomach
39	chr1:210111600-210112200	Bivalent/Poised TSS	HSMM	muscle
40	chr1:210111600-210112400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:210111600-210112400	Bivalent/Poised TSS	NHEK	skin
42	chr1:210111800-210112200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:210111800-210112200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
44	chr1:210111800-210112200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
45	chr1:210111800-210112200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:210111800-210112200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:210111800-210112200	Enhancers	Ovary	ovary
48	chr1:210111800-210112200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
49	chr1:210111800-210112400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
50	chr1:210111800-210112400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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