Variant report

Variant	rs502824
Chromosome Location	chr2:32259595-32259596
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	chr2:32256836..32258685-chr2:32259197..32262028,2	MCF-7	breast:
2	chr2:32256932..32260503-chr2:32262811..32264863,3	K562	blood:

Variant related genes	Relation type
ENSG00000162961	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11682335	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13403364	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs160793	1.00[AMR][1000 genomes]
rs191961	1.00[AMR][1000 genomes]
rs2116030	0.81[EUR][1000 genomes]
rs216536	0.90[AFR][1000 genomes]
rs2365556	0.81[EUR][1000 genomes]
rs420731	0.83[AFR][1000 genomes]
rs469462	0.81[AFR][1000 genomes]
rs483796	0.87[EUR][1000 genomes]
rs486754	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs490226	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs533970	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs552555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs559693	1.00[AMR][1000 genomes]
rs591625	1.00[EUR][1000 genomes]
rs624859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs631826	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs648652	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6543650	0.87[EUR][1000 genomes]
rs7600278	1.00[AMR][1000 genomes]
rs806149	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32236400-32264200	Weak transcription	Gastric	stomach
2	chr2:32236600-32261000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:32236600-32263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:32236600-32263800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:32236600-32263800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:32236600-32263800	Weak transcription	Psoas Muscle	Psoas
7	chr2:32236600-32264200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:32236600-32264200	Weak transcription	Right Atrium	heart
9	chr2:32236600-32264200	Weak transcription	Right Ventricle	heart
10	chr2:32236800-32263000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:32236800-32263800	Weak transcription	Small Intestine	intestine
12	chr2:32236800-32264000	Weak transcription	Brain Angular Gyrus	brain
13	chr2:32236800-32264000	Weak transcription	Fetal Heart	heart
14	chr2:32236800-32264000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:32236800-32264000	Weak transcription	HSMMtube	muscle
16	chr2:32237000-32259600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:32237000-32262000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:32237000-32263600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:32237000-32263800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:32237000-32263800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:32237400-32264000	Weak transcription	GM12878-XiMat	blood
22	chr2:32240800-32260200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:32244600-32263600	Weak transcription	NHEK	skin
24	chr2:32245600-32264200	Weak transcription	Aorta	Aorta
25	chr2:32246000-32263200	Weak transcription	Pancreas	Pancrea
26	chr2:32248600-32263800	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:32248800-32264000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:32249200-32263400	Weak transcription	Fetal Brain Male	brain
29	chr2:32249200-32263800	Weak transcription	NHLF	lung
30	chr2:32249800-32263800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:32249800-32263800	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:32249800-32264000	Weak transcription	NHDF-Ad	bronchial
33	chr2:32250400-32264000	Weak transcription	A549	lung
34	chr2:32251600-32264000	Weak transcription	Colonic Mucosa	Colon
35	chr2:32251800-32263800	Weak transcription	Left Ventricle	heart
36	chr2:32252200-32263800	Weak transcription	Spleen	Spleen
37	chr2:32254000-32263600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:32254000-32263800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:32254000-32263800	Weak transcription	HepG2	liver
40	chr2:32254000-32264000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:32254200-32263800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:32254200-32264000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:32254400-32263800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:32254400-32263800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:32254400-32263800	Weak transcription	Esophagus	oesophagus
46	chr2:32254600-32264000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:32254800-32263800	Weak transcription	Liver	Liver
48	chr2:32254800-32263800	Weak transcription	Placenta	Placenta
49	chr2:32254800-32264200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:32255200-32262000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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