Variant report

Variant	rs73124495
Chromosome Location	chr12:42817853-42817854
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	chr12:42817793..42820248-chr12:42823544..42825824,2	K562	blood:
2	chr12:42814393..42818074-chr12:42818334..42822097,5	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1037401	0.85[EUR][1000 genomes]
rs1139095	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11830387	0.95[EUR][1000 genomes]
rs11832838	0.95[EUR][1000 genomes]
rs17091061	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17091083	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17091094	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17091117	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17091138	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17091141	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17091163	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17091193	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17091220	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17091226	0.85[EUR][1000 genomes]
rs17121217	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1962526	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2305423	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2406676	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2406677	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3747559	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3810787	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3911246	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57447201	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57653125	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58594062	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59402225	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59423833	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59501472	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60092940	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60598518	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60659836	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67128387	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73116429	0.83[ASN][1000 genomes]
rs73116441	0.90[ASN][1000 genomes]
rs73116492	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73118486	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73118500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73120410	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73120468	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73120476	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73120499	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73124406	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73126404	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73126407	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73126412	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73126433	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73126453	0.84[AMR][1000 genomes];0.83[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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42720800-42844400	Weak transcription	Small Intestine	intestine
2	chr12:42738200-42823200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:42767200-42836200	Weak transcription	Esophagus	oesophagus
4	chr12:42780200-42836000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:42783000-42836000	Weak transcription	Lung	lung
6	chr12:42785400-42836000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:42789600-42836200	Weak transcription	Pancreas	Pancrea
8	chr12:42793800-42840400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:42795400-42834600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:42795600-42820400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:42795600-42820600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:42795600-42825800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:42795600-42834400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:42795800-42821800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:42795800-42836000	Weak transcription	Thymus	Thymus
16	chr12:42796000-42819600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:42796000-42820400	Weak transcription	NHEK	skin
18	chr12:42796000-42823600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:42796000-42825600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:42796000-42825800	Weak transcription	Left Ventricle	heart
21	chr12:42796000-42833200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:42796000-42834400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:42796000-42835000	Weak transcription	HepG2	liver
24	chr12:42796000-42835800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:42796000-42836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:42796000-42836200	Weak transcription	Fetal Stomach	stomach
27	chr12:42796000-42836400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:42796000-42838000	Weak transcription	HSMMtube	muscle
29	chr12:42796200-42826000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:42797000-42820600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:42799800-42820600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:42799800-42825400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:42801200-42823200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:42801400-42825800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:42801600-42820400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:42801600-42825600	Weak transcription	HSMM	muscle
37	chr12:42801800-42819600	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:42802000-42821800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:42802200-42821200	Weak transcription	Fetal Intestine Large	intestine
40	chr12:42802600-42823400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:42803200-42821800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:42804000-42819400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:42804400-42825800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:42805600-42820600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr12:42806800-42819400	Weak transcription	Primary T cells from cord blood	blood
46	chr12:42810400-42825400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:42810400-42825400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr12:42811600-42819800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:42812200-42835000	Weak transcription	Liver	Liver
50	chr12:42812600-42826400	Weak transcription	Rectal Mucosa Donor 29	rectum

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