Variant report

Variant	rs72917252
Chromosome Location	chr1:63276729-63276730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:63275626..63278892-chr1:63281499..63283482,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10493330	0.83[AMR][1000 genomes]
rs17123998	0.83[AMR][1000 genomes]
rs57064478	0.83[AMR][1000 genomes]
rs57885631	0.97[AFR][1000 genomes]
rs58234250	0.83[AMR][1000 genomes]
rs58800232	0.83[AMR][1000 genomes]
rs59318206	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59429889	0.83[AMR][1000 genomes]
rs60452972	0.83[AMR][1000 genomes]
rs60646258	0.83[AMR][1000 genomes]
rs60829308	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60850541	0.83[AMR][1000 genomes]
rs61314361	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6661162	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6702884	0.83[AMR][1000 genomes]
rs72915168	0.83[AMR][1000 genomes]
rs72915179	0.83[AMR][1000 genomes]
rs72917211	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72917229	0.83[AMR][1000 genomes]
rs72917233	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72917235	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72917236	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72917258	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7524516	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7556456	1.00[AFR][1000 genomes];0.83[AMR][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	nsv830015	chr1:63261143-63455296	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63250800-63319000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:63251000-63296000	Weak transcription	Fetal Thymus	thymus
3	chr1:63251000-63317800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:63251000-63327400	Weak transcription	Fetal Stomach	stomach
5	chr1:63251200-63327400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:63252000-63284400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:63257400-63293400	Weak transcription	Brain Anterior Caudate	brain
8	chr1:63261600-63326400	Weak transcription	Placenta	Placenta
9	chr1:63262800-63293000	Weak transcription	Brain Substantia Nigra	brain
10	chr1:63264800-63282800	Weak transcription	Left Ventricle	heart
11	chr1:63266800-63284600	Weak transcription	Fetal Kidney	kidney
12	chr1:63267000-63279800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:63267200-63327000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:63267200-63327400	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:63267400-63283400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:63267600-63287200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:63268000-63278800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:63268400-63297000	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:63268600-63319600	Weak transcription	Liver	Liver
20	chr1:63268800-63317600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:63269200-63317400	Weak transcription	Dnd41	blood
22	chr1:63269600-63309600	Weak transcription	Brain Angular Gyrus	brain
23	chr1:63270000-63286000	Weak transcription	Fetal Intestine Large	intestine
24	chr1:63270200-63287400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:63270400-63277200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:63270400-63331400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:63271400-63324400	Weak transcription	Pancreas	Pancrea
28	chr1:63271600-63326800	Weak transcription	Aorta	Aorta
29	chr1:63271600-63327400	Weak transcription	Thymus	Thymus
30	chr1:63271800-63324000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:63272400-63282200	Weak transcription	Fetal Heart	heart
32	chr1:63272400-63282600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:63272800-63278600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:63273000-63311600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:63273200-63291000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:63273200-63299000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:63273200-63306400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:63273200-63313800	Weak transcription	HSMM	muscle
39	chr1:63273400-63285200	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:63273600-63289000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:63273600-63322400	Weak transcription	Ovary	ovary
42	chr1:63273800-63329000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:63274000-63292600	Weak transcription	Primary T cells from cord blood	blood
44	chr1:63274400-63277600	Enhancers	Primary B cells from peripheral blood	blood
45	chr1:63274600-63278400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:63274600-63294200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:63275000-63321400	Weak transcription	Fetal Intestine Small	intestine
48	chr1:63275400-63278200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:63275400-63293000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr1:63275800-63276800	Enhancers	Primary monocytes fromperipheralblood	blood

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