Variant report

Variant	rs73093622
Chromosome Location	chr1:213397692-213397693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs35694574	1.00[AMR][1000 genomes]
rs57750357	1.00[AMR][1000 genomes]
rs59595887	1.00[AMR][1000 genomes]
rs73084295	1.00[AMR][1000 genomes]
rs73086317	1.00[AMR][1000 genomes]
rs73086335	1.00[AMR][1000 genomes]
rs73086365	1.00[AMR][1000 genomes]
rs73086369	1.00[AMR][1000 genomes]
rs73093616	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1012014	chr1:213371127-213423214	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1001201	chr1:213385827-213428021	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:213340600-213424600	Weak transcription	Pancreas	Pancrea
3	chr1:213345600-213404600	Weak transcription	Osteobl	bone
4	chr1:213360400-213405200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:213362200-213415400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:213369800-213398200	Weak transcription	Fetal Heart	heart
7	chr1:213370800-213427600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:213372000-213405200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:213372600-213413800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:213372800-213414000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:213373000-213398000	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:213373000-213405200	Weak transcription	Left Ventricle	heart
13	chr1:213373000-213414200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:213373000-213423000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:213373200-213405000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:213373200-213417000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:213375800-213405200	Weak transcription	Psoas Muscle	Psoas
18	chr1:213375800-213405200	Weak transcription	HSMM	muscle
19	chr1:213376800-213414200	Weak transcription	Brain Anterior Caudate	brain
20	chr1:213378800-213405200	Weak transcription	K562	blood
21	chr1:213378800-213421200	Weak transcription	Fetal Kidney	kidney
22	chr1:213379000-213405200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:213381600-213425000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:213382600-213405000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:213385600-213407000	Weak transcription	Stomach Mucosa	stomach
26	chr1:213386000-213405400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:213386600-213404800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:213387400-213398400	Weak transcription	Primary T cells from cord blood	blood
29	chr1:213387400-213414000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:213387600-213405000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:213388000-213405200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:213388000-213405200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:213388000-213414400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:213388000-213424600	Weak transcription	Gastric	stomach
35	chr1:213388200-213414000	Weak transcription	Aorta	Aorta
36	chr1:213388200-213414000	Weak transcription	Liver	Liver
37	chr1:213388200-213414200	Weak transcription	Ovary	ovary
38	chr1:213388200-213417200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:213388200-213426200	Weak transcription	Lung	lung
40	chr1:213388200-213455400	Weak transcription	Placenta	Placenta
41	chr1:213388400-213402200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:213388400-213404400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr1:213388400-213404600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:213388400-213405200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr1:213388400-213405200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:213388400-213405400	Weak transcription	Adipose Nuclei	Adipose
47	chr1:213388400-213407400	Weak transcription	Fetal Stomach	stomach
48	chr1:213388400-213407600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:213388400-213414000	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:213388400-213414200	Weak transcription	Primary hematopoietic stem cells	blood

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