Variant report

Variant	rs1565221
Chromosome Location	chr4:48384991-48384992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10517225	0.86[EUR][1000 genomes]
rs11932126	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13134960	0.86[EUR][1000 genomes]
rs1565218	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16861344	0.86[EUR][1000 genomes]
rs16861347	0.86[EUR][1000 genomes]
rs17609521	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609535	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609614	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609740	0.86[EUR][1000 genomes]
rs17609761	0.86[EUR][1000 genomes]
rs17655725	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17655741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2171577	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28581223	0.86[EUR][1000 genomes]
rs4695378	0.95[EUR][1000 genomes]
rs55730515	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55986500	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56932035	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57676508	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58038882	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58244627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58707818	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60891069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6810911	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6847014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852840	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73814762	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73814763	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73814782	0.86[EUR][1000 genomes]
rs7693468	0.92[AMR][1000 genomes];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	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr4:48355000-48412600	Weak transcription	Aorta	Aorta
2	chr4:48355800-48390600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:48363400-48405400	Weak transcription	Right Ventricle	heart
4	chr4:48371400-48395400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:48372600-48387000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:48372600-48426800	Weak transcription	Small Intestine	intestine
7	chr4:48374000-48385600	Weak transcription	Right Atrium	heart
8	chr4:48377800-48405000	Weak transcription	Esophagus	oesophagus
9	chr4:48377800-48423800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:48378000-48386400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:48378000-48390000	Weak transcription	NHLF	lung
12	chr4:48378000-48423800	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:48378200-48386400	Weak transcription	Hela-S3	cervix
14	chr4:48378200-48398400	Weak transcription	A549	lung
15	chr4:48378400-48387000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:48378400-48395200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:48378400-48405000	Weak transcription	Gastric	stomach
18	chr4:48378400-48405200	Weak transcription	Psoas Muscle	Psoas
19	chr4:48378600-48395200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:48379000-48387200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:48379600-48391800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr4:48379600-48393600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:48379600-48400200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:48379800-48388200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:48380000-48389200	Strong transcription	Fetal Lung	lung
26	chr4:48380000-48392000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:48380000-48399200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr4:48380200-48387600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr4:48380200-48388600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:48380400-48388000	Strong transcription	Primary T cells from cord blood	blood
31	chr4:48381200-48389400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:48381400-48405000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:48381600-48405000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr4:48382000-48385400	Strong transcription	Primary B cells from cord blood	blood
35	chr4:48382000-48389000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:48382000-48389000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr4:48382200-48398600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:48382200-48431800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:48382400-48388000	Strong transcription	Dnd41	blood
40	chr4:48382600-48387200	Weak transcription	Brain Germinal Matrix	brain
41	chr4:48382600-48388000	Strong transcription	Fetal Intestine Large	intestine
42	chr4:48383000-48388400	Weak transcription	Brain Anterior Caudate	brain
43	chr4:48383000-48389200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:48383000-48397200	Strong transcription	Fetal Thymus	thymus
45	chr4:48383000-48398400	Weak transcription	Fetal Brain Female	brain
46	chr4:48383000-48405200	Weak transcription	Spleen	Spleen
47	chr4:48383200-48386800	Weak transcription	Brain Hippocampus Middle	brain
48	chr4:48383200-48387000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:48383200-48389400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:48383200-48390000	Weak transcription	Brain Substantia Nigra	brain

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