Variant report

Variant	rs4453314
Chromosome Location	chr12:121343509-121343510
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	chr12:121342121..121344461-chr12:121350958..121352582,2	K562	blood:

Variant related genes	Relation type
ENSG00000231313	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10849797	0.82[AFR][1000 genomes]
rs11065281	0.82[AFR][1000 genomes]
rs11065315	0.93[AFR][1000 genomes]
rs73413866	0.85[AFR][1000 genomes]
rs73413874	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv560448	chr12:121341477-121364324	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv560452	chr12:121341581-121357934	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv560453	chr12:121342186-121364324	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4453314	CIT	cis	intralobular white matter	BrainEAC

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121342400-121345000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:121342600-121343800	Weak transcription	Psoas Muscle	Psoas
3	chr12:121342600-121345000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:121342600-121345000	Weak transcription	Aorta	Aorta
5	chr12:121342600-121345400	Weak transcription	Lung	lung
6	chr12:121342600-121345400	Weak transcription	Right Atrium	heart
7	chr12:121342600-121345800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:121342600-121345800	Enhancers	HMEC	breast
9	chr12:121342600-121346000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:121342600-121347600	Enhancers	Placenta	Placenta
11	chr12:121342800-121343800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:121342800-121343800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:121342800-121344000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:121342800-121344000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:121342800-121344400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:121342800-121344800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:121342800-121344800	Weak transcription	Hela-S3	cervix
18	chr12:121342800-121345000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:121342800-121345000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:121342800-121345000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:121342800-121345000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:121342800-121345000	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:121342800-121345000	Weak transcription	HSMM	muscle
24	chr12:121342800-121345000	Weak transcription	NH-A	brain
25	chr12:121342800-121345000	Weak transcription	NHDF-Ad	bronchial
26	chr12:121342800-121345000	Enhancers	NHEK	skin
27	chr12:121342800-121345000	Weak transcription	Osteobl	bone
28	chr12:121342800-121345200	Weak transcription	NHLF	lung
29	chr12:121342800-121345800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr12:121342800-121346200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:121342800-121346600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:121342800-121347000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:121342800-121347400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:121342800-121347400	Weak transcription	GM12878-XiMat	blood
35	chr12:121343000-121344800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:121343000-121344800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:121343000-121344800	Weak transcription	Fetal Heart	heart
38	chr12:121343000-121345000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:121343000-121362800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:121343200-121343600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:121343200-121343600	Enhancers	HepG2	liver
42	chr12:121343200-121347200	Weak transcription	Spleen	Spleen
43	chr12:121343400-121343800	Weak transcription	Esophagus	oesophagus

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