Variant report

Variant	rs4767453
Chromosome Location	chr12:117224559-117224560
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117217400..117220428-chr12:117221372..117224735,3	K562	blood:

Variant related genes	Relation type
ENSG00000201382	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12313074	0.88[ASN][1000 genomes]
rs2132389	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767451	0.86[ASN][1000 genomes]
rs6490092	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7297890	0.86[ASN][1000 genomes]
rs7299032	0.90[EUR][1000 genomes]
rs7310216	0.86[ASN][1000 genomes]
rs7315162	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7961400	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7969141	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[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	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1039046	chr12:117170989-117225635	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117177400-117225800	Weak transcription	HepG2	liver
2	chr12:117198000-117256200	Weak transcription	Hela-S3	cervix
3	chr12:117198200-117233600	Weak transcription	Fetal Stomach	stomach
4	chr12:117198200-117236600	Weak transcription	A549	lung
5	chr12:117198600-117233600	Weak transcription	Right Atrium	heart
6	chr12:117209800-117232600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:117213400-117226600	Weak transcription	Fetal Intestine Small	intestine
8	chr12:117216200-117225400	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:117216600-117226800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:117216800-117225400	Strong transcription	Brain Germinal Matrix	brain
11	chr12:117216800-117225600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:117216800-117225600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:117216800-117229600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:117217400-117224600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:117217400-117226200	Weak transcription	Aorta	Aorta
16	chr12:117217600-117226400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:117218000-117225800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:117219000-117226000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:117219200-117225600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:117219600-117225200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:117220200-117228000	Weak transcription	HSMMtube	muscle
22	chr12:117220800-117224600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:117221200-117236800	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:117221600-117226200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:117221800-117224600	Weak transcription	Spleen	Spleen
26	chr12:117221800-117226400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:117222000-117230200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:117222000-117248000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:117222200-117224600	Weak transcription	Fetal Thymus	thymus
30	chr12:117222200-117226600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:117222200-117231000	Weak transcription	Fetal Brain Male	brain
32	chr12:117222200-117235400	Weak transcription	Thymus	Thymus
33	chr12:117222400-117236600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:117222400-117236800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:117222600-117236600	Weak transcription	Brain Angular Gyrus	brain
36	chr12:117222600-117236600	Weak transcription	Brain Anterior Caudate	brain
37	chr12:117222800-117236600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:117222800-117236600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:117223000-117224600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:117223000-117224600	Weak transcription	Primary B cells from cord blood	blood
41	chr12:117223400-117234400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:117223600-117227800	Weak transcription	Fetal Brain Female	brain
43	chr12:117223600-117228000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:117223600-117231800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:117223600-117246200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:117223800-117230000	Weak transcription	GM12878-XiMat	blood
47	chr12:117224000-117225200	Strong transcription	Brain Cingulate Gyrus	brain
48	chr12:117224000-117229200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:117224200-117225200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:117224400-117225000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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