Variant report

Variant	rs370623140
Chromosome Location	chr12:120974130-120974131
allele	A/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	POLR2A	chr12:120973950-120974493	GM12878	blood:	n/a	n/a
2	FOXA1	chr12:120974112-120974543	HepG2	liver:	n/a	chr12:120974259-120974271
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	chr12:120972451..120974167-chr19:10764022..10766297,2	K562	blood:
7	chr12:120729269..120732334-chr12:120971435..120974602,3	K562	blood:
8	chr12:120728052..120732322-chr12:120971723..120974902,6	MCF-7	breast:
9	chr12:120729040..120730997-chr12:120974004..120976288,2	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
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000267100	Chromatin interaction
ENSG00000256364	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000129351	Chromatin interaction
ENSG00000257218	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	chr12:120971800-120974200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:120971800-120974200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:120971800-120974200	Active TSS	Stomach Mucosa	stomach
4	chr12:120971800-120974200	Active TSS	HSMMtube	muscle
5	chr12:120971800-120974400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr12:120971800-120974400	Active TSS	Right Atrium	heart
7	chr12:120971800-120974600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr12:120972000-120974600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:120972000-120974800	Active TSS	Pancreas	Pancrea
10	chr12:120972000-120975000	Active TSS	Esophagus	oesophagus
11	chr12:120972000-120975000	Active TSS	Gastric	stomach
12	chr12:120972200-120974200	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr12:120972800-120974200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr12:120972800-120975000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr12:120972800-120975600	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr12:120972800-120977400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr12:120972800-120977600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:120973000-120974200	Flanking Active TSS	NH-A	brain
19	chr12:120973000-120974400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:120973000-120974400	Flanking Active TSS	Fetal Thymus	thymus
21	chr12:120973000-120974600	Flanking Active TSS	Fetal Brain Male	brain
22	chr12:120973000-120974600	Flanking Active TSS	HMEC	breast
23	chr12:120973000-120974800	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr12:120973000-120974800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:120973000-120975000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr12:120973000-120975000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:120973000-120975200	Flanking Active TSS	Liver	Liver
28	chr12:120973000-120975200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr12:120973000-120976000	Transcr. at gene 5' and 3'	Dnd41	blood
30	chr12:120973000-120977200	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr12:120973000-120977400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:120973000-120980200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr12:120973200-120974200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:120973200-120974200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr12:120973200-120974200	Flanking Active TSS	Fetal Lung	lung
36	chr12:120973200-120974200	Active TSS	HepG2	liver
37	chr12:120973200-120974400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:120973200-120974600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr12:120973200-120974800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr12:120973200-120975000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr12:120973200-120977000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr12:120973200-120977000	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr12:120973200-120977400	Flanking Active TSS	HUVEC	blood vessel
44	chr12:120973400-120974200	Flanking Active TSS	Hela-S3	cervix
45	chr12:120973400-120974400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:120973400-120974400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:120973400-120974600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:120973400-120974600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr12:120973400-120974600	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr12:120973400-120974600	Flanking Active TSS	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links