Variant report

Variant	rs62123445
Chromosome Location	chr2:20474704-20474705
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	chr2:20470435..20474435-chr2:20474599..20476885,4	K562	blood:
2	chr2:20473741..20476352-chr2:20478752..20483600,5	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10153828	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10165087	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10167509	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10168575	1.00[EUR][1000 genomes]
rs10170538	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10171861	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10172088	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10173098	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10178561	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10179429	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10182156	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10182228	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10182834	0.87[EUR][1000 genomes]
rs10184976	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10189781	0.81[EUR][1000 genomes]
rs10193751	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10195817	0.81[EUR][1000 genomes]
rs10197941	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10204489	0.87[EUR][1000 genomes]
rs10206963	0.81[EUR][1000 genomes]
rs10207798	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13390701	0.89[AMR][1000 genomes]
rs13391140	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13398963	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13409830	0.87[EUR][1000 genomes]
rs13412971	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13426989	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62123438	0.81[EUR][1000 genomes]
rs62123439	0.81[EUR][1000 genomes]
rs62123441	0.87[EUR][1000 genomes]
rs62123443	0.87[EUR][1000 genomes]
rs62123444	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62123446	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62123448	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62123450	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62123451	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62123453	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62123454	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62123455	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62123458	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62124599	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62124600	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62124601	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62124602	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62124603	0.86[EUR][1000 genomes]
rs62124604	0.91[EUR][1000 genomes]
rs6715475	0.87[EUR][1000 genomes]
rs73214391	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73214393	1.00[EUR][1000 genomes]
rs73216207	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73216223	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73216230	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73216236	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73218112	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7565347	1.00[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	nsv524207	chr2:20448561-20503436	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv999153	chr2:20467929-20521954	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20442000-20491000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:20442800-20474800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:20444400-20489000	Weak transcription	Stomach Mucosa	stomach
4	chr2:20452000-20481600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:20454200-20480800	Weak transcription	Aorta	Aorta
6	chr2:20454200-20480800	Weak transcription	Psoas Muscle	Psoas
7	chr2:20454200-20482800	Weak transcription	Pancreas	Pancrea
8	chr2:20454200-20488800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:20454200-20490800	Weak transcription	Right Ventricle	heart
10	chr2:20454200-20491000	Weak transcription	Gastric	stomach
11	chr2:20454200-20491000	Weak transcription	Spleen	Spleen
12	chr2:20454200-20499600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:20454400-20481600	Weak transcription	Brain Angular Gyrus	brain
14	chr2:20455400-20481600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:20455400-20482600	Weak transcription	Ovary	ovary
16	chr2:20455800-20481600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:20455800-20485000	Weak transcription	Colonic Mucosa	Colon
18	chr2:20456400-20482600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:20456400-20488800	Weak transcription	Small Intestine	intestine
20	chr2:20456600-20477800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:20458000-20491000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:20459800-20478000	Weak transcription	Fetal Heart	heart
23	chr2:20459800-20480800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:20459800-20481600	Weak transcription	Brain Anterior Caudate	brain
25	chr2:20459800-20481600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:20460000-20476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:20460000-20480600	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:20460200-20481000	Weak transcription	HMEC	breast
29	chr2:20460200-20528600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:20460800-20480600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:20460800-20481600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:20460800-20485800	Weak transcription	Fetal Brain Male	brain
33	chr2:20461000-20480000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:20461000-20481800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:20461800-20477800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:20462200-20480800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:20462200-20482400	Weak transcription	Brain Germinal Matrix	brain
38	chr2:20462400-20480800	Weak transcription	Left Ventricle	heart
39	chr2:20462600-20477200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:20462600-20480800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:20462600-20482200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:20463000-20476600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:20463000-20480400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr2:20463400-20478400	Weak transcription	NHDF-Ad	bronchial
45	chr2:20463400-20479200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:20463600-20476000	Weak transcription	Osteobl	bone
47	chr2:20463600-20480600	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:20465600-20500400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:20466000-20530400	Strong transcription	Fetal Thymus	thymus
50	chr2:20467000-20522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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