Variant report

Variant	rs73220119
Chromosome Location	chr12:118597669-118597670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118572856..118575962-chr12:118597469..118600285,3	K562	blood:
2	chr12:118573812..118576177-chr12:118596570..118599987,3	K562	blood:
3	chr12:118596371..118598245-chr12:118599433..118601239,2	K562	blood:

Variant related genes	Relation type
ENSG00000135090	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000089220	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10507286	0.80[EUR][1000 genomes]
rs1051077	1.00[ASN][1000 genomes]
rs16939761	1.00[ASN][1000 genomes]
rs17440315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440336	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440364	0.81[EUR][1000 genomes]
rs17512177	0.80[EUR][1000 genomes]
rs17512198	0.80[EUR][1000 genomes]
rs17586342	0.90[EUR][1000 genomes]
rs61943523	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943525	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943535	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61943537	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61943538	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7974375	0.87[EUR][1000 genomes];1.00[ASN][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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1054703	chr12:118575000-118638613	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv541611	chr12:118575000-118638613	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118575600-118601600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:118576000-118601200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:118576000-118619600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:118576000-118624000	Weak transcription	Stomach Mucosa	stomach
5	chr12:118577400-118601800	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:118577600-118599000	Weak transcription	Psoas Muscle	Psoas
7	chr12:118578200-118611600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:118578600-118603200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:118583800-118598000	Weak transcription	HUVEC	blood vessel
10	chr12:118584000-118627600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:118585600-118603000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:118585800-118619000	Weak transcription	HepG2	liver
13	chr12:118586200-118601000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:118586200-118619400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:118586600-118613600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:118586800-118600400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:118586800-118600800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:118586800-118601400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr12:118586800-118603600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:118587000-118600400	Strong transcription	Primary T cells from cord blood	blood
21	chr12:118587600-118611200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:118587600-118619200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:118587800-118620000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:118589000-118601200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr12:118589400-118601200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:118589600-118619000	Weak transcription	A549	lung
27	chr12:118590400-118598800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:118590400-118617000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:118592600-118619400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:118593000-118601200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr12:118593200-118598000	Strong transcription	Brain Angular Gyrus	brain
32	chr12:118593200-118598800	Strong transcription	Brain Anterior Caudate	brain
33	chr12:118593200-118600400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:118593200-118619200	Strong transcription	Fetal Brain Female	brain
35	chr12:118593200-118619400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:118593200-118619600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr12:118593400-118600400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:118593600-118600000	Strong transcription	Fetal Stomach	stomach
39	chr12:118593600-118600400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:118593600-118600600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:118593600-118601600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:118593800-118598800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:118593800-118600200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr12:118593800-118600400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:118593800-118600400	Strong transcription	Liver	Liver
46	chr12:118593800-118600400	Strong transcription	Left Ventricle	heart
47	chr12:118594000-118598000	Strong transcription	Brain Hippocampus Middle	brain
48	chr12:118594000-118600000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:118594000-118600400	Strong transcription	NHEK	skin
50	chr12:118594000-118601200	Strong transcription	Brain Germinal Matrix	brain

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