Variant report

Variant	rs428409
Chromosome Location	chr4:119632680-119632681
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	chr4:119618502..119620267-chr4:119631410..119633788,2	K562	blood:
2	chr4:119626579..119629053-chr4:119632251..119635031,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11722833	0.96[EUR][1000 genomes]
rs12500272	0.91[EUR][1000 genomes]
rs12509236	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12509654	0.95[EUR][1000 genomes]
rs13109947	0.81[EUR][1000 genomes]
rs13109966	0.81[EUR][1000 genomes]
rs13114964	0.81[EUR][1000 genomes]
rs13130107	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17050423	0.81[EUR][1000 genomes]
rs298976	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298980	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298981	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298989	0.98[EUR][1000 genomes]
rs298990	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs298993	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298997	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs299002	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs299003	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs299004	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34371874	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34384498	0.81[EUR][1000 genomes]
rs399086	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs401950	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs437027	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs439159	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4834698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4834699	0.91[EUR][1000 genomes]
rs960739	0.95[EUR][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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607000-119644800	Weak transcription	Small Intestine	intestine
2	chr4:119607200-119659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:119608000-119645000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:119608600-119635200	Strong transcription	Fetal Thymus	thymus
6	chr4:119608600-119635800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:119608600-119674000	Weak transcription	Stomach Mucosa	stomach
8	chr4:119608800-119635000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:119609000-119633200	Strong transcription	Placenta	Placenta
10	chr4:119609000-119633400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:119609000-119633400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:119609000-119633800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:119609000-119634400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:119609000-119634800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:119609000-119635000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:119609000-119635000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr4:119609000-119636000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:119609000-119636200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr4:119609200-119633400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:119609200-119634400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr4:119609200-119634800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:119609200-119635600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:119609200-119635600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:119609200-119635800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:119609200-119636200	Strong transcription	Adipose Nuclei	Adipose
26	chr4:119609200-119648600	Weak transcription	Fetal Heart	heart
27	chr4:119609400-119633400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:119609400-119635600	Strong transcription	Dnd41	blood
29	chr4:119613000-119634400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:119615400-119633200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:119615600-119633200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr4:119620000-119660200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr4:119621800-119634800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:119622000-119635800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr4:119623600-119635600	Strong transcription	Primary B cells from cord blood	blood
36	chr4:119623800-119633200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr4:119624800-119636000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:119625400-119634200	Strong transcription	Fetal Intestine Large	intestine
39	chr4:119625400-119634600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr4:119625400-119636000	Strong transcription	Liver	Liver
41	chr4:119625800-119718000	Weak transcription	Hela-S3	cervix
42	chr4:119626600-119646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:119626600-119648000	Weak transcription	Psoas Muscle	Psoas
44	chr4:119626800-119633000	Weak transcription	Fetal Stomach	stomach
45	chr4:119626800-119642200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:119626800-119644800	Weak transcription	Aorta	Aorta
47	chr4:119627200-119645000	Weak transcription	Spleen	Spleen
48	chr4:119627400-119633000	Weak transcription	Esophagus	oesophagus
49	chr4:119627400-119645200	Weak transcription	Gastric	stomach
50	chr4:119627400-119645600	Weak transcription	Pancreas	Pancrea

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