Variant report

Variant	rs5753502
Chromosome Location	chr22:31580538-31580539
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	chr22:31573119..31575986-chr22:31580233..31581989,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11089493	0.81[ASN][1000 genomes]
rs12168242	0.86[ASN][1000 genomes]
rs12484282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12484775	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17220418	0.81[ASN][1000 genomes]
rs2073856	0.87[ASN][1000 genomes]
rs2073859	0.85[ASN][1000 genomes]
rs2073860	0.85[ASN][1000 genomes]
rs2073861	0.85[ASN][1000 genomes]
rs2074734	0.81[ASN][1000 genomes]
rs2267168	0.88[ASN][1000 genomes]
rs2283882	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28678535	0.88[ASN][1000 genomes]
rs28872513	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3747153	0.86[ASN][1000 genomes]
rs3747154	0.86[ASN][1000 genomes]
rs3827331	0.82[ASN][1000 genomes]
rs4364102	0.85[ASN][1000 genomes]
rs5749219	0.89[ASN][1000 genomes]
rs5749225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5749230	0.91[ASN][1000 genomes]
rs5749233	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5749235	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5749236	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5749239	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5749240	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5749241	0.87[ASN][1000 genomes]
rs5749247	0.85[ASN][1000 genomes]
rs5753485	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5753494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753495	0.85[AMR][1000 genomes]
rs5753506	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5753509	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5753511	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs5753512	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5753513	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5753516	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5753519	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5753523	0.82[ASN][1000 genomes]
rs5753525	0.88[ASN][1000 genomes]
rs5753526	0.88[ASN][1000 genomes]
rs5753527	0.88[ASN][1000 genomes]
rs5753529	0.88[ASN][1000 genomes]
rs5753532	0.87[ASN][1000 genomes]
rs5753534	0.86[ASN][1000 genomes]
rs5753535	0.85[ASN][1000 genomes]
rs5753540	0.85[ASN][1000 genomes]
rs5753542	0.85[ASN][1000 genomes]
rs57775002	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5997921	0.83[ASN][1000 genomes]
rs7292620	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9619178	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9621212	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9621215	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9621220	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9621226	0.85[ASN][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	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31557200-31591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr22:31557400-31595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:31557400-31597800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:31557600-31591800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:31557800-31587000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr22:31557800-31588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:31558600-31583000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr22:31558600-31591400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr22:31558800-31591200	Weak transcription	Fetal Brain Male	brain
10	chr22:31558800-31606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr22:31562400-31583200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:31564600-31582600	Weak transcription	Fetal Thymus	thymus
13	chr22:31566200-31583000	Weak transcription	Brain Angular Gyrus	brain
14	chr22:31566400-31583000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr22:31569600-31583200	Weak transcription	Brain Anterior Caudate	brain
16	chr22:31569800-31583000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr22:31569800-31591600	Weak transcription	Small Intestine	intestine
18	chr22:31570000-31606400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr22:31570200-31583000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr22:31570400-31583000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr22:31570400-31586800	Strong transcription	Fetal Stomach	stomach
22	chr22:31570400-31597800	Weak transcription	HUVEC	blood vessel
23	chr22:31571800-31582800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr22:31572200-31600000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr22:31573600-31583000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr22:31573600-31583000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr22:31574000-31583200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr22:31574200-31590800	Weak transcription	Brain Substantia Nigra	brain
29	chr22:31574400-31581400	Weak transcription	Placenta	Placenta
30	chr22:31574400-31601600	Weak transcription	Fetal Heart	heart
31	chr22:31574600-31581000	Weak transcription	Fetal Lung	lung
32	chr22:31574600-31581200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr22:31574600-31583200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr22:31574800-31581000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr22:31574800-31583000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:31574800-31587200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr22:31575400-31582800	Weak transcription	Thymus	Thymus
38	chr22:31575600-31581200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr22:31575800-31581000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr22:31575800-31581200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr22:31575800-31583000	Weak transcription	Adipose Nuclei	Adipose
42	chr22:31575800-31583000	Weak transcription	Aorta	Aorta
43	chr22:31575800-31583000	Weak transcription	HepG2	liver
44	chr22:31575800-31588600	Weak transcription	Colon Smooth Muscle	Colon
45	chr22:31575800-31588600	Weak transcription	NHLF	lung
46	chr22:31575800-31591600	Weak transcription	NH-A	brain
47	chr22:31575800-31602600	Weak transcription	Stomach Mucosa	stomach
48	chr22:31575800-31607600	Weak transcription	Hela-S3	cervix
49	chr22:31576000-31580800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr22:31576000-31580800	Weak transcription	Pancreas	Pancrea

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