Variant report

Variant	rs73122367
Chromosome Location	chr12:64900116-64900117
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	chr12:64899993..64902635-chr12:64973489..64976285,2	K562	blood:
2	chr12:64845355..64847313-chr12:64898915..64901595,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183735	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11829120	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11837890	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075094	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292023	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55654954	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55690537	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55999447	0.85[AMR][1000 genomes]
rs56198126	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56326550	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58143737	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60358746	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60520114	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61396007	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931543	0.85[AMR][1000 genomes]
rs61931544	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61931545	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61931549	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931550	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931552	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931555	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931557	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931558	0.91[ASN][1000 genomes]
rs61933191	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933192	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933195	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933196	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933198	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933199	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933200	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933201	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933202	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933204	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933205	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61933207	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933209	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933211	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933212	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303577	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120375	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120383	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7488918	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64847000-64900800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:64871000-64908200	Weak transcription	Psoas Muscle	Psoas
3	chr12:64885400-64904400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:64887800-64902800	Weak transcription	Colonic Mucosa	Colon
5	chr12:64888400-64904600	Weak transcription	Left Ventricle	heart
6	chr12:64889400-64903800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:64890600-64904600	Weak transcription	HSMMtube	muscle
8	chr12:64891200-64902000	Weak transcription	Brain Substantia Nigra	brain
9	chr12:64892000-64903000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:64892000-64903800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:64893000-64901400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:64893800-64904400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:64894400-64902400	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:64894400-64903200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:64894400-64903400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:64894600-64900200	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:64895000-64900800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:64895000-64902600	Weak transcription	Fetal Stomach	stomach
19	chr12:64895600-64903600	Weak transcription	GM12878-XiMat	blood
20	chr12:64895800-64903400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:64895800-64912200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:64896000-64904600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:64896200-64903600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:64896200-64905800	Weak transcription	Dnd41	blood
25	chr12:64896600-64916000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:64896800-64900600	Weak transcription	HSMM	muscle
27	chr12:64896800-64903200	Weak transcription	Placenta	Placenta

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