Variant report

Variant	rs72917293
Chromosome Location	chr1:63307948-63307949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:63307631..63310506-chr1:63317147..63319485,2	K562	blood:
2	chr1:63306962..63307948-chr1:63455117..63455729,2	MCF-7	breast:
3	chr1:63301720..63303514-chr1:63307887..63310417,3	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57754785	0.92[AFR][1000 genomes]
rs72919125	0.81[AFR][1000 genomes]
rs7527194	0.88[AFR][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	chr1:63251000-63317800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:63251000-63327400	Weak transcription	Fetal Stomach	stomach
4	chr1:63251200-63327400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:63261600-63326400	Weak transcription	Placenta	Placenta
6	chr1:63267200-63327000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:63267200-63327400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:63268600-63319600	Weak transcription	Liver	Liver
9	chr1:63268800-63317600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:63269200-63317400	Weak transcription	Dnd41	blood
11	chr1:63269600-63309600	Weak transcription	Brain Angular Gyrus	brain
12	chr1:63270400-63331400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:63271400-63324400	Weak transcription	Pancreas	Pancrea
14	chr1:63271600-63326800	Weak transcription	Aorta	Aorta
15	chr1:63271600-63327400	Weak transcription	Thymus	Thymus
16	chr1:63271800-63324000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:63273000-63311600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:63273200-63313800	Weak transcription	HSMM	muscle
19	chr1:63273600-63322400	Weak transcription	Ovary	ovary
20	chr1:63273800-63329000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:63275000-63321400	Weak transcription	Fetal Intestine Small	intestine
22	chr1:63276000-63322800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:63276400-63311600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:63276400-63312200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:63276400-63322600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:63276600-63323200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr1:63276600-63324400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:63276800-63322000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:63276800-63331400	Weak transcription	Fetal Lung	lung
30	chr1:63277600-63320600	Weak transcription	Right Ventricle	heart
31	chr1:63277600-63327600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:63278200-63325000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:63278400-63314800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:63278400-63322400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:63283800-63324000	Weak transcription	K562	blood
36	chr1:63285200-63311600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:63287800-63327400	Weak transcription	Lung	lung
38	chr1:63288000-63317600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:63288800-63319400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:63289400-63317600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:63291600-63311600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:63293400-63317200	Weak transcription	HUVEC	blood vessel
43	chr1:63293400-63319200	Weak transcription	Psoas Muscle	Psoas
44	chr1:63293800-63324000	Weak transcription	Brain Anterior Caudate	brain
45	chr1:63294200-63311600	Weak transcription	Primary T cells from cord blood	blood
46	chr1:63294600-63324000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr1:63295000-63310400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:63297000-63313200	Weak transcription	NHEK	skin
49	chr1:63297600-63320400	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:63298200-63328600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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