Variant report

Variant	rs530824582
Chromosome Location	chr12:120974911-120974912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120974893-120975203	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120727107..120731318-chr12:120971335..120975286,11	K562	blood:
2	chr12:120974402..120975933-chr12:120988975..120990489,2	MCF-7	breast:
3	chr12:120882042..120885526-chr12:120971268..120975128,6	K562	blood:
4	chr12:120874999..120877444-chr12:120972685..120975166,2	K562	blood:
5	chr12:120974713..120977550-chr12:122230607..122232618,2	MCF-7	breast:
6	chr12:120974437..120977304-chr12:120987855..120989624,2	K562	blood:
7	chr12:120729040..120730997-chr12:120974004..120976288,2	MCF-7	breast:
8	chr12:120925184..120926895-chr12:120973583..120975847,2	K562	blood:
9	chr12:120974815..120979080-chr12:120980221..120984438,7	K562	blood:
10	chr12:120973210..120975541-chr12:121135063..121137387,2	K562	blood:
11	chr12:120965752..120968769-chr12:120974337..120978260,3	MCF-7	breast:

No data

Variant related genes	Relation type
COQ5	TF binding region
ENSG00000110871	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000256364	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906	chr12:120973683-121018441	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120972000-120975000	Active TSS	Esophagus	oesophagus
2	chr12:120972000-120975000	Active TSS	Gastric	stomach
3	chr12:120972800-120975000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr12:120972800-120975600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr12:120972800-120977400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr12:120972800-120977600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:120973000-120975000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr12:120973000-120975000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr12:120973000-120975200	Flanking Active TSS	Liver	Liver
10	chr12:120973000-120975200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr12:120973000-120976000	Transcr. at gene 5' and 3'	Dnd41	blood
12	chr12:120973000-120977200	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr12:120973000-120977400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:120973000-120980200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr12:120973200-120975000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr12:120973200-120977000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr12:120973200-120977000	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr12:120973200-120977400	Flanking Active TSS	HUVEC	blood vessel
19	chr12:120973400-120975000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:120973400-120975000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:120973400-120975000	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr12:120973400-120975000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:120973400-120975200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:120973400-120976800	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr12:120973400-120984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:120973600-120975000	Flanking Active TSS	Placenta	Placenta
27	chr12:120973600-120975200	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr12:120973600-120976400	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr12:120973600-120976600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:120973800-120975600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:120973800-120976000	Flanking Active TSS	Psoas Muscle	Psoas
32	chr12:120973800-120984000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:120974000-120975000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:120974000-120975000	Flanking Active TSS	Fetal Heart	heart
35	chr12:120974000-120975200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:120974000-120975400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:120974000-120976000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr12:120974000-120976600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:120974000-120977200	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr12:120974000-120977800	Enhancers	Spleen	Spleen
41	chr12:120974200-120975000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:120974200-120975000	Transcr. at gene 5' and 3'	Hela-S3	cervix
43	chr12:120974200-120975600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:120974200-120975600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr12:120974200-120976800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr12:120974200-120976800	Flanking Active TSS	HepG2	liver
47	chr12:120974200-120978600	Genic enhancers	Fetal Muscle Leg	muscle
48	chr12:120974400-120975000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:120974400-120975000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr12:120974400-120975000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin

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