Variant report

Variant	rs181056468
Chromosome Location	chr12:120974756-120974757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 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	chr12:120932857..120935871-chr12:120969535..120974885,9	K562	blood:
5	chr12:120874999..120877444-chr12:120972685..120975166,2	K562	blood:
6	chr12:120974713..120977550-chr12:122230607..122232618,2	MCF-7	breast:
7	chr12:120974437..120977304-chr12:120987855..120989624,2	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:
13	chr12:120965752..120968769-chr12:120974337..120978260,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000088986	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000256364	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000111786	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	chr12:120972000-120974800	Active TSS	Pancreas	Pancrea
2	chr12:120972000-120975000	Active TSS	Esophagus	oesophagus
3	chr12:120972000-120975000	Active TSS	Gastric	stomach
4	chr12:120972800-120975000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr12:120972800-120975600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr12:120972800-120977400	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr12:120972800-120977600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:120973000-120974800	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr12:120973000-120974800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:120973000-120975000	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr12:120973000-120975000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr12:120973000-120975200	Flanking Active TSS	Liver	Liver
13	chr12:120973000-120975200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr12:120973000-120976000	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr12:120973000-120977200	Flanking Active TSS	Rectal Smooth Muscle	rectum
16	chr12:120973000-120977400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:120973000-120980200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr12:120973200-120974800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr12:120973200-120975000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr12:120973200-120977000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr12:120973200-120977000	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr12:120973200-120977400	Flanking Active TSS	HUVEC	blood vessel
23	chr12:120973400-120974800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:120973400-120974800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
25	chr12:120973400-120975000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:120973400-120975000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:120973400-120975000	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr12:120973400-120975000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr12:120973400-120975200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:120973400-120976800	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr12:120973400-120984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:120973600-120974800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr12:120973600-120974800	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr12:120973600-120974800	Transcr. at gene 5' and 3'	A549	lung
35	chr12:120973600-120975000	Flanking Active TSS	Placenta	Placenta
36	chr12:120973600-120975200	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr12:120973600-120976400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr12:120973600-120976600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:120973800-120975600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr12:120973800-120976000	Flanking Active TSS	Psoas Muscle	Psoas
41	chr12:120973800-120984000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:120974000-120974800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr12:120974000-120974800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
44	chr12:120974000-120974800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
45	chr12:120974000-120974800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr12:120974000-120974800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
47	chr12:120974000-120974800	Flanking Active TSS	NHDF-Ad	bronchial
48	chr12:120974000-120974800	Transcr. at gene 5' and 3'	NHEK	skin
49	chr12:120974000-120975000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:120974000-120975000	Flanking Active TSS	Fetal Heart	heart

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