Variant report

Variant	rs478415
Chromosome Location	chr12:121101676-121101677
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	chr12:121094803..121097261-chr12:121099973..121102109,2	K562	blood:

Variant related genes	Relation type
ENSG00000157782	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs589210	1.00[AMR][1000 genomes]
rs590978	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	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
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv3357633	chr12:121097169-121101867	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 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	chr12:121090000-121106000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:121091000-121104400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:121091000-121107000	Weak transcription	Brain Anterior Caudate	brain
4	chr12:121091200-121106600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:121091200-121106800	Weak transcription	Brain Germinal Matrix	brain
6	chr12:121093000-121107200	Weak transcription	Right Atrium	heart
7	chr12:121093200-121107000	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:121093200-121107200	Weak transcription	Fetal Lung	lung
9	chr12:121095600-121104400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:121096200-121105800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:121097200-121107000	Weak transcription	Adipose Nuclei	Adipose
12	chr12:121097600-121107000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:121097800-121106800	Weak transcription	Fetal Brain Female	brain
14	chr12:121099200-121104000	Weak transcription	Fetal Stomach	stomach
15	chr12:121099200-121107000	Weak transcription	Left Ventricle	heart
16	chr12:121099800-121101800	Enhancers	GM12878-XiMat	blood
17	chr12:121099800-121104400	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:121100000-121102200	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:121100000-121107000	Weak transcription	Brain Angular Gyrus	brain
20	chr12:121100000-121107600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:121100200-121106000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:121100200-121107000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:121100400-121102000	Enhancers	Primary B cells from cord blood	blood
24	chr12:121101200-121102200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:121101600-121101800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:121101600-121101800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:121101600-121102200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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