Variant report

Variant	rs73052222
Chromosome Location	chr1:192961934-192961935
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10489515	1.00[EUR][1000 genomes]
rs10921269	1.00[EUR][1000 genomes]
rs12091442	1.00[EUR][1000 genomes]
rs12093765	1.00[EUR][1000 genomes]
rs12096309	1.00[EUR][1000 genomes]
rs1342808	1.00[EUR][1000 genomes]
rs1418719	1.00[EUR][1000 genomes]
rs16834852	1.00[EUR][1000 genomes]
rs16834867	1.00[EUR][1000 genomes]
rs16834872	1.00[EUR][1000 genomes]
rs16834876	1.00[EUR][1000 genomes]
rs41512544	1.00[EUR][1000 genomes]
rs56031935	1.00[EUR][1000 genomes]
rs57149196	1.00[EUR][1000 genomes]
rs57189481	1.00[EUR][1000 genomes]
rs57630083	1.00[EUR][1000 genomes]
rs57826402	1.00[EUR][1000 genomes]
rs57890252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60892638	1.00[EUR][1000 genomes]
rs6680350	1.00[EUR][1000 genomes]
rs6683145	1.00[EUR][1000 genomes]
rs6702235	1.00[EUR][1000 genomes]
rs6702236	1.00[EUR][1000 genomes]
rs73052226	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73062239	1.00[EUR][1000 genomes]
rs73062264	1.00[EUR][1000 genomes]
rs73062267	1.00[EUR][1000 genomes]
rs73062271	1.00[EUR][1000 genomes]
rs73062273	1.00[EUR][1000 genomes]
rs73062285	1.00[EUR][1000 genomes]
rs73062286	1.00[EUR][1000 genomes]
rs73062290	1.00[EUR][1000 genomes]
rs73064112	1.00[EUR][1000 genomes]
rs73064182	1.00[EUR][1000 genomes]
rs73064200	1.00[EUR][1000 genomes]
rs73066132	1.00[EUR][1000 genomes]
rs73068111	1.00[EUR][1000 genomes]
rs73068113	1.00[EUR][1000 genomes]
rs73068116	1.00[EUR][1000 genomes]
rs7538953	1.00[EUR][1000 genomes]
rs7552270	1.00[EUR][1000 genomes]
rs7555263	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998429	chr1:192961698-193050515	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192937000-192963400	Weak transcription	Aorta	Aorta
2	chr1:192938000-192972800	Weak transcription	Psoas Muscle	Psoas
3	chr1:192944000-192962800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:192944000-192963000	Weak transcription	Pancreas	Pancrea
5	chr1:192944200-192963200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:192944400-192962800	Weak transcription	Osteobl	bone
7	chr1:192947000-192968800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:192948000-192966800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:192949200-192963200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:192950400-192962800	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:192950600-192962600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:192952000-192962600	Weak transcription	Primary B cells from cord blood	blood
13	chr1:192952200-192963400	Weak transcription	Thymus	Thymus
14	chr1:192953200-192962200	Weak transcription	NHEK	skin
15	chr1:192953400-192962600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:192953400-192962600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:192953400-192963400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:192953400-192963400	Weak transcription	HMEC	breast
19	chr1:192953600-192962800	Weak transcription	GM12878-XiMat	blood
20	chr1:192953600-192963000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:192953600-192963200	Weak transcription	Adipose Nuclei	Adipose
22	chr1:192953600-192982400	Weak transcription	HSMMtube	muscle
23	chr1:192954000-192962800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:192954000-192963000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:192954200-192991200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:192954800-192978800	Weak transcription	Right Ventricle	heart
27	chr1:192955000-192963400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:192955400-192963400	Weak transcription	Fetal Stomach	stomach
29	chr1:192955800-192962800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:192955800-192963400	Weak transcription	Fetal Intestine Small	intestine
31	chr1:192955800-192972400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:192955800-192990600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:192956000-192963200	Weak transcription	Fetal Intestine Large	intestine
34	chr1:192956000-192963400	Weak transcription	Left Ventricle	heart
35	chr1:192956000-192965400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr1:192956000-192966600	Weak transcription	Dnd41	blood
37	chr1:192956000-192966800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:192956200-192972000	Weak transcription	Brain Anterior Caudate	brain
39	chr1:192956200-192988400	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:192957000-192962800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:192957800-192963400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:192957800-192963400	Weak transcription	Liver	Liver
43	chr1:192958000-192962400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:192958000-192962600	Weak transcription	K562	blood
45	chr1:192958000-192963000	Weak transcription	Primary T cells from cord blood	blood
46	chr1:192958000-192963400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:192958800-192963400	Weak transcription	Ovary	ovary
48	chr1:192959400-192963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:192959600-192962400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:192959600-192963400	Weak transcription	H1 Cell Line	embryonic stem cell

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