Variant report

Variant	rs142141596
Chromosome Location	chr12:120973972-120973973
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr12:120973945-120974059	K562	blood:	n/a	n/a
2	POLR2A	chr12:120973950-120974493	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:120973957-120974675	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120727107..120731318-chr12:120971335..120975286,11	K562	blood:
2	chr12:120931985..120935585-chr12:120970035..120974742,8	MCF-7	breast:
3	chr12:120882042..120885526-chr12:120971268..120975128,6	K562	blood:
4	chr12:120932857..120935871-chr12:120969535..120974885,9	K562	blood:
5	chr12:120874999..120877444-chr12:120972685..120975166,2	K562	blood:
6	chr12:120971743..120974059-chr12:121017467..121020168,3	MCF-7	breast:
7	chr12:120972451..120974167-chr19:10764022..10766297,2	K562	blood:
8	chr12:120729269..120732334-chr12:120971435..120974602,3	K562	blood:
9	chr12:120728052..120732322-chr12:120971723..120974902,6	MCF-7	breast:
10	chr12:120925184..120926895-chr12:120973583..120975847,2	K562	blood:
11	chr12:120973210..120975541-chr12:121135063..121137387,2	K562	blood:
12	chr12:120905762..120908724-chr12:120970875..120974820,5	MCF-7	breast:

No data

Variant related genes	Relation type
COQ5	TF binding region
ENSG00000170855	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000129351	Chromatin interaction
ENSG00000256364	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000267100	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000111780	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	chr12:120971400-120974000	Active TSS	Duodenum Mucosa	Duodenum
2	chr12:120971800-120974000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:120971800-120974000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:120971800-120974000	Active TSS	Colonic Mucosa	Colon
5	chr12:120971800-120974000	Active TSS	Left Ventricle	heart
6	chr12:120971800-120974000	Active TSS	Ovary	ovary
7	chr12:120971800-120974000	Active TSS	Right Ventricle	heart
8	chr12:120971800-120974000	Active TSS	GM12878-XiMat	blood
9	chr12:120971800-120974200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:120971800-120974200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:120971800-120974200	Active TSS	Stomach Mucosa	stomach
12	chr12:120971800-120974200	Active TSS	HSMMtube	muscle
13	chr12:120971800-120974400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr12:120971800-120974400	Active TSS	Right Atrium	heart
15	chr12:120971800-120974600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr12:120972000-120974600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:120972000-120974800	Active TSS	Pancreas	Pancrea
18	chr12:120972000-120975000	Active TSS	Esophagus	oesophagus
19	chr12:120972000-120975000	Active TSS	Gastric	stomach
20	chr12:120972200-120974000	Active TSS	Lung	lung
21	chr12:120972200-120974200	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr12:120972800-120974200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr12:120972800-120975000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr12:120972800-120975600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr12:120972800-120977400	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr12:120972800-120977600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:120973000-120974000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr12:120973000-120974000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr12:120973000-120974200	Flanking Active TSS	NH-A	brain
30	chr12:120973000-120974400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:120973000-120974400	Flanking Active TSS	Fetal Thymus	thymus
32	chr12:120973000-120974600	Flanking Active TSS	Fetal Brain Male	brain
33	chr12:120973000-120974600	Flanking Active TSS	HMEC	breast
34	chr12:120973000-120974800	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr12:120973000-120974800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:120973000-120975000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr12:120973000-120975000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr12:120973000-120975200	Flanking Active TSS	Liver	Liver
39	chr12:120973000-120975200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr12:120973000-120976000	Transcr. at gene 5' and 3'	Dnd41	blood
41	chr12:120973000-120977200	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr12:120973000-120977400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:120973000-120980200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr12:120973200-120974000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:120973200-120974000	Flanking Active TSS	Thymus	Thymus
46	chr12:120973200-120974000	Weak transcription	Spleen	Spleen
47	chr12:120973200-120974200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:120973200-120974200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr12:120973200-120974200	Flanking Active TSS	Fetal Lung	lung
50	chr12:120973200-120974200	Active TSS	HepG2	liver

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