Variant report

Variant	rs73120410
Chromosome Location	chr12:42736749-42736750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42730865..42733403-chr12:42735896..42737550,2	MCF-7	breast:
2	chr12:42718314..42720744-chr12:42735500..42738358,4	K562	blood:
3	chr12:42736097..42738418-chr12:42740659..42742927,2	K562	blood:
4	chr12:42717851..42720439-chr12:42735401..42737000,2	K562	blood:

Variant related genes	Relation type
ENSG00000134283	Chromatin interaction
ENSG00000139168	Chromatin interaction
ENSG00000252917	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1139095	0.90[EUR][1000 genomes]
rs11830387	0.90[EUR][1000 genomes]
rs11832838	0.90[EUR][1000 genomes]
rs17091061	0.83[EUR][1000 genomes]
rs17091083	0.95[EUR][1000 genomes]
rs17091094	0.95[EUR][1000 genomes]
rs17091117	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091138	0.95[EUR][1000 genomes]
rs17091141	0.95[EUR][1000 genomes]
rs17091163	0.95[EUR][1000 genomes]
rs17091193	0.95[EUR][1000 genomes]
rs17091220	0.82[AMR][1000 genomes]
rs17121217	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962526	0.95[EUR][1000 genomes]
rs2305423	0.95[EUR][1000 genomes]
rs2406676	0.95[EUR][1000 genomes]
rs2406677	0.95[EUR][1000 genomes]
rs3747559	0.88[EUR][1000 genomes]
rs3810787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3911246	0.95[EUR][1000 genomes]
rs57447201	0.95[EUR][1000 genomes]
rs57653125	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58594062	0.95[EUR][1000 genomes]
rs59402225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59423833	0.88[EUR][1000 genomes]
rs59501472	0.90[EUR][1000 genomes]
rs60092940	0.83[EUR][1000 genomes]
rs60598518	0.95[EUR][1000 genomes]
rs60659836	0.95[EUR][1000 genomes]
rs73116441	0.83[ASN][1000 genomes]
rs73116492	0.83[EUR][1000 genomes]
rs73118486	0.90[EUR][1000 genomes]
rs73118500	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120476	0.92[EUR][1000 genomes]
rs73120499	0.95[EUR][1000 genomes]
rs73124406	0.95[EUR][1000 genomes]
rs73124495	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73126404	0.90[EUR][1000 genomes]
rs73126407	0.90[EUR][1000 genomes]
rs73126412	0.88[EUR][1000 genomes]
rs73126433	0.90[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	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription 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 miRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42720800-42844400	Weak transcription	Small Intestine	intestine
2	chr12:42721000-42758000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:42721600-42739200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:42721600-42743000	Weak transcription	Esophagus	oesophagus
5	chr12:42721600-42747600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:42721600-42748600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:42721600-42750000	Weak transcription	Aorta	Aorta
8	chr12:42721600-42750600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:42721600-42751800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:42721600-42769000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:42721600-42778600	Weak transcription	Spleen	Spleen
12	chr12:42721600-42800800	Weak transcription	Psoas Muscle	Psoas
13	chr12:42721600-42803600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:42721800-42740200	Weak transcription	HSMMtube	muscle
15	chr12:42721800-42745400	Weak transcription	Fetal Brain Male	brain
16	chr12:42721800-42750200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:42721800-42756200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:42721800-42769600	Weak transcription	Brain Substantia Nigra	brain
19	chr12:42721800-42769800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:42721800-42797000	Weak transcription	NHLF	lung
21	chr12:42721800-42803600	Weak transcription	Gastric	stomach
22	chr12:42722000-42737600	Weak transcription	NHDF-Ad	bronchial
23	chr12:42722000-42769600	Weak transcription	Brain Anterior Caudate	brain
24	chr12:42722000-42769600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:42722000-42772600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:42722000-42793200	Weak transcription	Fetal Kidney	kidney
27	chr12:42722200-42749800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:42722200-42750200	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:42722200-42752800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:42722200-42769200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:42722400-42744600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:42724400-42742200	Weak transcription	Brain Angular Gyrus	brain
33	chr12:42724400-42755400	Weak transcription	Pancreas	Pancrea
34	chr12:42726000-42740200	Weak transcription	Fetal Heart	heart
35	chr12:42726200-42749400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:42727800-42736800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr12:42729000-42742200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:42729600-42738200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:42729600-42738200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:42730400-42750000	Weak transcription	Ovary	ovary
41	chr12:42730600-42737600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr12:42730600-42749800	Weak transcription	Left Ventricle	heart
43	chr12:42730600-42750000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:42730800-42737600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:42730800-42737600	Weak transcription	A549	lung
46	chr12:42730800-42742400	Weak transcription	HepG2	liver
47	chr12:42730800-42746800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:42730800-42747400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:42730800-42748800	Weak transcription	Adipose Nuclei	Adipose
50	chr12:42730800-42769600	Weak transcription	NH-A	brain

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