Variant report

Variant	rs73238401
Chromosome Location	chr4:56773873-56773874
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11658	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11722734	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12498449	0.97[ASN][1000 genomes]
rs12646999	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17086129	0.95[ASN][1000 genomes]
rs2290016	0.93[ASN][1000 genomes]
rs61260672	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6820052	0.93[ASN][1000 genomes]
rs73238374	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73238378	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73238385	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73238389	0.97[ASN][1000 genomes]
rs73238391	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73238392	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73238393	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv879024	chr4:56742205-56786589	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv879025	chr4:56742205-56808607	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3492848	chr4:56770810-56775264	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3492849	chr4:56770810-56775264	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
2	chr4:56737000-56774800	Weak transcription	Psoas Muscle	Psoas
3	chr4:56748600-56776800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:56751400-56776200	Weak transcription	A549	lung
5	chr4:56759800-56774200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:56760400-56774400	Weak transcription	Fetal Brain Male	brain
7	chr4:56760400-56775000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:56762200-56776600	Weak transcription	Osteobl	bone
9	chr4:56766800-56786800	Weak transcription	Ovary	ovary
10	chr4:56767400-56776200	Weak transcription	NHDF-Ad	bronchial
11	chr4:56769000-56774800	Weak transcription	Fetal Lung	lung
12	chr4:56770200-56774800	Weak transcription	GM12878-XiMat	blood
13	chr4:56770800-56777800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr4:56771000-56779800	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:56772000-56774000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:56772000-56774200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:56772000-56774200	Weak transcription	Fetal Thymus	thymus
18	chr4:56772000-56774600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:56772000-56786600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:56772200-56774000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:56772200-56774000	Enhancers	Hela-S3	cervix
22	chr4:56772200-56775000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:56772200-56776400	Weak transcription	HSMM	muscle
24	chr4:56772400-56774000	Weak transcription	Fetal Intestine Small	intestine
25	chr4:56772400-56774000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr4:56772400-56774400	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:56772600-56774200	Weak transcription	Fetal Stomach	stomach
28	chr4:56772600-56774400	Weak transcription	Fetal Intestine Large	intestine
29	chr4:56772600-56784800	Weak transcription	Primary T cells from cord blood	blood
30	chr4:56772800-56774600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:56772800-56774800	Weak transcription	Placenta	Placenta
32	chr4:56772800-56776600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:56772800-56793200	Weak transcription	Left Ventricle	heart
34	chr4:56773000-56774000	Weak transcription	Primary B cells from cord blood	blood
35	chr4:56773000-56774000	Enhancers	HUVEC	blood vessel
36	chr4:56773000-56774400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr4:56773000-56776600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr4:56773200-56774000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:56773200-56774600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr4:56773400-56774000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:56773400-56774000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:56773400-56774000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr4:56773400-56774800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:56773400-56775200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:56773600-56774000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr4:56773600-56774000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr4:56773600-56774000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:56773600-56774000	Flanking Active TSS	Dnd41	blood
49	chr4:56773600-56776400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:56773600-56776600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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