Variant report

Variant	rs73238397
Chromosome Location	chr4:56770064-56770065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56769616..56772179-chr4:56795493..56798021,2	K562	blood:

Variant related genes	Relation type
ENSG00000222954	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1072799	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727702	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729456	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734942	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086132	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086150	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086186	1.00[ASN][1000 genomes]
rs17086254	1.00[ASN][1000 genomes]
rs17728804	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17740755	1.00[ASN][1000 genomes]
rs17742000	1.00[ASN][1000 genomes]
rs17742722	1.00[ASN][1000 genomes]
rs17743071	1.00[ASN][1000 genomes]
rs17797113	1.00[ASN][1000 genomes]
rs17797407	1.00[ASN][1000 genomes]
rs17797571	1.00[ASN][1000 genomes]
rs17797595	1.00[ASN][1000 genomes]
rs17798452	1.00[ASN][1000 genomes]
rs17798872	1.00[ASN][1000 genomes]
rs2899046	1.00[ASN][1000 genomes]
rs2899053	1.00[ASN][1000 genomes]
rs34179097	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34184679	1.00[ASN][1000 genomes]
rs35143702	1.00[ASN][1000 genomes]
rs41279543	1.00[ASN][1000 genomes]
rs41280345	1.00[ASN][1000 genomes]
rs55806680	1.00[AFR][1000 genomes]
rs56026480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61753870	1.00[ASN][1000 genomes]
rs6814812	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817717	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833480	1.00[ASN][1000 genomes]
rs6845953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848009	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238326	1.00[AFR][1000 genomes]
rs73238333	1.00[AFR][1000 genomes]
rs73238359	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238365	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238367	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238368	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238369	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238370	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238371	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238372	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238373	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238377	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238379	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238380	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238381	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238382	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238383	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs748013	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7657912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669903	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675287	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675490	0.90[EUR][1000 genomes]
rs7690739	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698100	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994601	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
2	chr4:56733800-56772200	Weak transcription	Hela-S3	cervix
3	chr4:56733800-56772800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:56734400-56773000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr4:56734600-56773400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:56737000-56774800	Weak transcription	Psoas Muscle	Psoas
7	chr4:56738000-56771400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:56745800-56772800	Weak transcription	Small Intestine	intestine
9	chr4:56747800-56772800	Weak transcription	NHEK	skin
10	chr4:56748000-56772000	Weak transcription	NHLF	lung
11	chr4:56748000-56773200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr4:56748200-56773400	Weak transcription	Gastric	stomach
13	chr4:56748400-56770200	Weak transcription	HepG2	liver
14	chr4:56748600-56773000	Weak transcription	Right Ventricle	heart
15	chr4:56748600-56773200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:56748600-56773400	Weak transcription	Colonic Mucosa	Colon
17	chr4:56748600-56776800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:56751000-56770200	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:56751400-56776200	Weak transcription	A549	lung
20	chr4:56754800-56772800	Strong transcription	Placenta	Placenta
21	chr4:56755000-56770800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr4:56755800-56772000	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr4:56755800-56772200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:56756000-56773200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr4:56756600-56773200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:56758000-56772800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:56758600-56773200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:56758800-56772800	Strong transcription	Liver	Liver
29	chr4:56759200-56770400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:56759800-56774200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:56760200-56771600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:56760200-56772600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:56760200-56773600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:56760400-56772000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:56760400-56772800	Weak transcription	HMEC	breast
36	chr4:56760400-56773600	Weak transcription	Pancreas	Pancrea
37	chr4:56760400-56774400	Weak transcription	Fetal Brain Male	brain
38	chr4:56760400-56775000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:56760600-56772800	Weak transcription	K562	blood
40	chr4:56761600-56771400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:56761800-56773400	Weak transcription	Thymus	Thymus
42	chr4:56762200-56770400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:56762200-56773200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr4:56762200-56776600	Weak transcription	Osteobl	bone
45	chr4:56762400-56773600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:56763000-56771800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:56763600-56770400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:56764000-56770400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr4:56764400-56770400	Weak transcription	Brain Germinal Matrix	brain
50	chr4:56764400-56770800	Weak transcription	Fetal Muscle Leg	muscle

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