Variant report

Variant	rs73124315
Chromosome Location	chr12:62970437-62970438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr12:62970389-62970589	H1-hESC	embryonic stem cell:	n/a	chr12:62970477-62970492 chr12:62970480-62970494 chr12:62970482-62970493 chr12:62970481-62970492 chr12:62970477-62970493 chr12:62970482-62970493 chr12:62970481-62970492
2	MAFK	chr12:62970321-62970643	IMR90	lung:	n/a	chr12:62970477-62970492 chr12:62970480-62970494 chr12:62970482-62970493 chr12:62970481-62970492 chr12:62970477-62970493 chr12:62970482-62970493 chr12:62970481-62970492
3	MAFF	chr12:62970317-62970657	HepG2	liver:	n/a	chr12:62970476-62970494
4	MAFK	chr12:62970372-62970623	Hela-S3	cervix:	n/a	chr12:62970477-62970492 chr12:62970480-62970494 chr12:62970482-62970493 chr12:62970481-62970492 chr12:62970477-62970493 chr12:62970482-62970493 chr12:62970481-62970492
5	MAFK	chr12:62970300-62970665	HepG2	liver:	n/a	chr12:62970477-62970492 chr12:62970480-62970494 chr12:62970482-62970493 chr12:62970481-62970492 chr12:62970477-62970493 chr12:62970482-62970493 chr12:62970481-62970492
6	MAFK	chr12:62970343-62970636	K562	blood:	n/a	chr12:62970477-62970492 chr12:62970480-62970494 chr12:62970482-62970493 chr12:62970481-62970492 chr12:62970477-62970493 chr12:62970482-62970493 chr12:62970481-62970492
7	MAFK	chr12:62970310-62970645	HepG2	liver:	n/a	chr12:62970477-62970492 chr12:62970480-62970494 chr12:62970482-62970493 chr12:62970481-62970492 chr12:62970477-62970493 chr12:62970482-62970493 chr12:62970481-62970492
8	MAFF	chr12:62970317-62970634	K562	blood:	n/a	chr12:62970476-62970494

No.	Distal block	Cell Line	Cell type
1	chr12:62959063..62961641-chr12:62967844..62970820,2	K562	blood:
2	chr12:62967790..62972054-chr12:63185896..63188649,3	MCF-7	breast:
3	chr12:62968394..62971296-chr12:62995438..62997947,2	MCF-7	breast:

Variant related genes	Relation type
MON2	TF binding region
ENSG00000061987	Chromatin interaction
ENSG00000199179	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000257354	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10877855	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877856	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877857	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877859	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877862	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877864	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877870	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174487	0.81[EUR][1000 genomes]
rs11174494	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174495	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174496	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11174498	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174504	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174514	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174517	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174518	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174527	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174537	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11174557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11174562	0.91[AFR][1000 genomes]
rs11174568	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11174569	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11174571	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11174575	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11174576	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11520127	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11613132	0.82[EUR][1000 genomes]
rs11614022	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11614822	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12367878	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12369751	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12369961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369985	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12370404	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17731893	0.91[AFR][1000 genomes]
rs17732089	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17732182	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs55833440	0.91[AFR][1000 genomes]
rs7296573	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7297093	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7301016	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7302094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7302456	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7303825	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73126004	0.91[AFR][1000 genomes]
rs73126024	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73141014	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73141045	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7962519	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7975109	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62907000-62987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:62915800-62971600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:62917200-62995000	Weak transcription	Fetal Heart	heart
4	chr12:62928800-62995800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:62938000-62995400	Weak transcription	Stomach Mucosa	stomach
6	chr12:62944600-62989000	Weak transcription	Colonic Mucosa	Colon
7	chr12:62950400-62995600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:62950600-62975000	Weak transcription	Right Ventricle	heart
9	chr12:62950600-62982600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:62950600-62991200	Weak transcription	Gastric	stomach
11	chr12:62950600-62996200	Weak transcription	Small Intestine	intestine
12	chr12:62950800-62987600	Weak transcription	Pancreas	Pancrea
13	chr12:62950800-62995000	Weak transcription	NHEK	skin
14	chr12:62951000-62987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:62951000-62995600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:62951200-62971600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:62951200-62979600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:62951200-62986800	Weak transcription	Brain Angular Gyrus	brain
19	chr12:62951200-62988600	Weak transcription	Spleen	Spleen
20	chr12:62951200-62995200	Weak transcription	Hela-S3	cervix
21	chr12:62951200-62995600	Weak transcription	HSMMtube	muscle
22	chr12:62951400-62995000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:62953400-62996000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:62954800-62989000	Weak transcription	Lung	lung
25	chr12:62954800-62995600	Weak transcription	Brain Anterior Caudate	brain
26	chr12:62955000-62987800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:62955200-62995200	Weak transcription	HepG2	liver
28	chr12:62955600-62995600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:62957000-62995600	Weak transcription	Fetal Brain Male	brain
30	chr12:62957200-62972400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:62957200-62995600	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:62958600-62972800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:62958600-62972800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:62959400-62979800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:62959600-62995600	Weak transcription	NHLF	lung
36	chr12:62960000-62979600	Weak transcription	K562	blood
37	chr12:62960000-62982800	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:62961200-62995600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:62961400-62971400	Weak transcription	A549	lung
40	chr12:62961400-62982600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:62961400-62989200	Weak transcription	Psoas Muscle	Psoas
42	chr12:62961400-62995600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr12:62961400-62995600	Weak transcription	Brain Germinal Matrix	brain
44	chr12:62961600-62995600	Weak transcription	Fetal Brain Female	brain
45	chr12:62961800-62995600	Weak transcription	Brain Substantia Nigra	brain
46	chr12:62962000-62995600	Weak transcription	HMEC	breast
47	chr12:62962400-62982000	Weak transcription	HUVEC	blood vessel
48	chr12:62963200-62995600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:62964000-62995800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:62965400-62992800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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