Variant report

Variant	rs13393733
Chromosome Location	chr2:20468271-20468272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20467246..20470350-chr2:20472212..20474237,3	K562	blood:
2	chr2:20463108..20465491-chr2:20466450..20468569,2	K562	blood:
3	chr2:20466339..20468775-chr2:20471320..20473308,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10175853	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10187080	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10192042	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10206974	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1043400	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10460445	0.87[ASN][1000 genomes]
rs10460449	0.87[ASN][1000 genomes]
rs10460450	0.87[ASN][1000 genomes]
rs10460451	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10856797	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11096654	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11888357	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11895228	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11896241	0.88[ASN][1000 genomes]
rs11900127	0.88[ASN][1000 genomes]
rs11902769	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11903745	0.88[ASN][1000 genomes]
rs12373772	0.81[AMR][1000 genomes]
rs12373819	0.83[AMR][1000 genomes]
rs12465832	0.87[ASN][1000 genomes]
rs12472685	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12473500	0.86[ASN][1000 genomes]
rs12474897	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12478265	0.88[ASN][1000 genomes]
rs13415389	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17612703	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2072464	0.99[ASN][1000 genomes]
rs2348703	0.88[ASN][1000 genomes]
rs34678899	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3796066	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3821218	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57938873	0.83[AMR][1000 genomes]
rs59129757	0.83[AMR][1000 genomes]
rs62109740	0.83[AMR][1000 genomes]
rs62111433	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62123442	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748274	0.88[ASN][1000 genomes]
rs72785217	0.99[ASN][1000 genomes]
rs72785218	0.99[ASN][1000 genomes]
rs72785278	0.99[ASN][1000 genomes]
rs72785282	0.98[ASN][1000 genomes]
rs72785297	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72785298	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72785300	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72785301	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72787406	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72787409	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72787411	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72787415	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72787433	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72787499	0.87[ASN][1000 genomes]
rs72787501	0.87[ASN][1000 genomes]
rs72788905	0.87[ASN][1000 genomes]
rs7558385	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7558833	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7563245	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7582642	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7595266	0.99[ASN][1000 genomes]
rs9306890	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9306891	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][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	chr2:20445400-20473800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:20446400-20473600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:20447000-20468600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:20447000-20470200	Strong transcription	Dnd41	blood
8	chr2:20452000-20481600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:20454200-20471600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:20454200-20480800	Weak transcription	Aorta	Aorta
11	chr2:20454200-20480800	Weak transcription	Psoas Muscle	Psoas
12	chr2:20454200-20482800	Weak transcription	Pancreas	Pancrea
13	chr2:20454200-20488800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:20454200-20490800	Weak transcription	Right Ventricle	heart
15	chr2:20454200-20491000	Weak transcription	Gastric	stomach
16	chr2:20454200-20491000	Weak transcription	Spleen	Spleen
17	chr2:20454200-20499600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:20454400-20481600	Weak transcription	Brain Angular Gyrus	brain
19	chr2:20455400-20481600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:20455400-20482600	Weak transcription	Ovary	ovary
21	chr2:20455800-20481600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:20455800-20485000	Weak transcription	Colonic Mucosa	Colon
23	chr2:20456400-20482600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:20456400-20488800	Weak transcription	Small Intestine	intestine
25	chr2:20456600-20477800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:20458000-20491000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:20459800-20478000	Weak transcription	Fetal Heart	heart
28	chr2:20459800-20480800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:20459800-20481600	Weak transcription	Brain Anterior Caudate	brain
30	chr2:20459800-20481600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:20460000-20476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:20460000-20480600	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:20460200-20481000	Weak transcription	HMEC	breast
34	chr2:20460200-20528600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:20460800-20471800	Weak transcription	HSMMtube	muscle
36	chr2:20460800-20480600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:20460800-20481600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:20460800-20485800	Weak transcription	Fetal Brain Male	brain
39	chr2:20461000-20480000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr2:20461000-20481800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:20461800-20469600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:20461800-20477800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:20462200-20480800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:20462200-20482400	Weak transcription	Brain Germinal Matrix	brain
45	chr2:20462400-20480800	Weak transcription	Left Ventricle	heart
46	chr2:20462600-20477200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:20462600-20480800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:20462600-20482200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:20463000-20468600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:20463000-20476600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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