Variant report

Variant	rs12372454
Chromosome Location	chr12:105417406-105417407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105394211..105395980-chr12:105415862..105418537,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10082824	1.00[ASN][1000 genomes]
rs10083185	1.00[ASN][1000 genomes]
rs11112291	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112292	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112293	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112294	1.00[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112295	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112315	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112316	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112318	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112333	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11112381	1.00[ASN][1000 genomes]
rs11112389	1.00[ASN][1000 genomes]
rs11495192	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829598	1.00[ASN][1000 genomes]
rs12307372	1.00[ASN][1000 genomes]
rs12369202	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369490	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372369	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425803	1.00[ASN][1000 genomes]
rs17036595	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036608	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801070	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35149056	1.00[ASN][1000 genomes]
rs3910856	1.00[ASN][1000 genomes]
rs55679730	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55916348	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284118	1.00[ASN][1000 genomes]
rs56862143	1.00[ASN][1000 genomes]
rs60835294	1.00[ASN][1000 genomes]
rs6539184	1.00[ASN][1000 genomes]
rs7136453	1.00[ASN][1000 genomes]
rs7138574	1.00[ASN][1000 genomes]
rs7300730	1.00[ASN][1000 genomes]
rs7310860	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313309	1.00[ASN][1000 genomes]
rs7315964	1.00[ASN][1000 genomes]
rs73179946	1.00[ASN][1000 genomes]
rs73179970	1.00[ASN][1000 genomes]
rs73179974	1.00[ASN][1000 genomes]
rs73179990	1.00[ASN][1000 genomes]
rs73179996	1.00[ASN][1000 genomes]
rs73179998	1.00[ASN][1000 genomes]
rs73180001	1.00[ASN][1000 genomes]
rs73191788	1.00[ASN][1000 genomes]
rs73193611	0.88[EUR][1000 genomes]
rs73193619	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193626	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193630	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193631	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956643	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964184	1.00[ASN][1000 genomes]
rs7966109	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975787	1.00[ASN][1000 genomes]
rs7978034	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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105389000-105430600	Weak transcription	Hela-S3	cervix
2	chr12:105393200-105418200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:105393400-105421200	Weak transcription	NHLF	lung
4	chr12:105394000-105418000	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:105394200-105422800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:105394200-105435000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:105394800-105434200	Weak transcription	Brain Substantia Nigra	brain
8	chr12:105397400-105419400	Weak transcription	Fetal Brain Male	brain
9	chr12:105397400-105443200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:105407200-105419800	Weak transcription	Fetal Brain Female	brain
11	chr12:105407400-105418400	Weak transcription	Right Ventricle	heart
12	chr12:105407800-105419400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:105407800-105419400	Weak transcription	Fetal Lung	lung
14	chr12:105407800-105425000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:105407800-105426000	Weak transcription	Fetal Intestine Small	intestine
16	chr12:105407800-105430200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:105407800-105434400	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:105408000-105419800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:105408000-105434400	Weak transcription	Brain Angular Gyrus	brain
20	chr12:105408000-105434400	Weak transcription	Brain Anterior Caudate	brain
21	chr12:105408800-105418800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:105409200-105418000	Weak transcription	NH-A	brain
23	chr12:105409200-105425000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:105409200-105446800	Weak transcription	Left Ventricle	heart
25	chr12:105409400-105428800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:105409400-105465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:105409600-105418200	Weak transcription	Ovary	ovary
28	chr12:105409600-105418600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:105409600-105424000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:105409600-105424600	Weak transcription	Dnd41	blood
31	chr12:105409600-105427800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:105409800-105424000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr12:105410200-105419400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:105410200-105424600	Weak transcription	A549	lung
35	chr12:105410600-105418800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:105410800-105418400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:105410800-105419600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:105410800-105425000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:105410800-105430600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:105410800-105446400	Weak transcription	K562	blood
41	chr12:105411200-105419600	Strong transcription	Osteobl	bone
42	chr12:105412200-105417800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:105412200-105418200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:105412200-105424400	Weak transcription	Primary B cells from cord blood	blood
45	chr12:105412400-105419000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:105412400-105440400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:105412600-105418000	Weak transcription	Liver	Liver
48	chr12:105412600-105418800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:105412800-105418200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:105412800-105418400	Weak transcription	Adipose Nuclei	Adipose

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