Variant report

Variant	rs12308592
Chromosome Location	chr12:117349988-117349989
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117348859..117352842-chr12:117353908..117358678,6	K562	blood:
2	chr12:117344357..117346215-chr12:117348073..117350254,2	K562	blood:
3	chr12:117255053..117257426-chr12:117349302..117351380,2	K562	blood:
4	chr12:117349947..117352255-chr12:117362016..117363854,2	K562	blood:
5	chr12:117349929..117351804-chr12:117393764..117395801,2	MCF-7	breast:
6	chr12:117314859..117317028-chr12:117347500..117350151,4	MCF-7	breast:
7	chr12:117348884..117350434-chr12:117351419..117353815,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000240100	Chromatin interaction
ENSG00000135116	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1051879	0.89[AMR][1000 genomes]
rs11068246	1.00[AMR][1000 genomes]
rs11068255	1.00[AMR][1000 genomes]
rs12099584	0.89[AMR][1000 genomes]
rs12313248	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316811	1.00[AMR][1000 genomes]
rs12317604	1.00[AMR][1000 genomes]
rs12321592	1.00[AMR][1000 genomes]
rs16947122	1.00[AMR][1000 genomes]
rs16947131	0.89[AMR][1000 genomes]
rs16947209	0.89[AMR][1000 genomes]
rs16947233	0.89[AMR][1000 genomes]
rs4094199	0.89[AMR][1000 genomes]
rs4451816	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58882507	0.89[AMR][1000 genomes]
rs59373313	1.00[AMR][1000 genomes]
rs60272946	0.89[AMR][1000 genomes]
rs61178788	0.89[AMR][1000 genomes]
rs61207925	0.89[AMR][1000 genomes]
rs61288722	0.89[AMR][1000 genomes]
rs7133142	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7133609	0.89[AMR][1000 genomes]
rs7136880	1.00[AMR][1000 genomes]
rs7302713	1.00[AMR][1000 genomes]
rs7305313	1.00[AMR][1000 genomes]
rs73395566	1.00[AMR][1000 genomes]
rs73395571	1.00[AMR][1000 genomes]
rs73395601	1.00[AMR][1000 genomes]
rs73397424	0.89[AMR][1000 genomes]
rs73397478	0.89[AMR][1000 genomes]
rs73397488	0.89[AMR][1000 genomes]
rs73399480	0.89[AMR][1000 genomes]
rs73399483	0.89[AMR][1000 genomes]
rs73399502	0.89[AMR][1000 genomes]
rs7959860	0.89[AMR][1000 genomes]
rs7963012	1.00[AMR][1000 genomes]

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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117348200-117350000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:117348200-117350000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr12:117348200-117350000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr12:117348200-117350000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:117348200-117350000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:117348200-117350000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:117348200-117350000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:117348200-117350000	Active TSS	Muscle Satellite Cultured Cells	--
9	chr12:117348200-117350000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:117348200-117350000	Active TSS	Stomach Smooth Muscle	stomach
11	chr12:117348200-117350000	Active TSS	K562	blood
12	chr12:117348200-117350200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:117348200-117350200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr12:117348200-117350200	Active TSS	NHLF	lung
15	chr12:117348400-117350200	Active TSS	Psoas Muscle	Psoas
16	chr12:117348800-117350200	Active TSS	NH-A	brain
17	chr12:117349200-117350000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr12:117349200-117350000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr12:117349200-117350000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:117349200-117350000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:117349200-117350000	Flanking Active TSS	Dnd41	blood
22	chr12:117349200-117350000	Flanking Active TSS	GM12878-XiMat	blood
23	chr12:117349200-117350200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr12:117349200-117350200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:117349200-117350200	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr12:117349400-117350000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr12:117349400-117350000	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr12:117349400-117350000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr12:117349400-117350000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr12:117349400-117350000	Flanking Active TSS	Fetal Brain Female	brain
31	chr12:117349400-117350000	Flanking Active TSS	Hela-S3	cervix
32	chr12:117349400-117350000	Flanking Active TSS	HUVEC	blood vessel
33	chr12:117349400-117350000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr12:117349400-117350000	Flanking Active TSS	NHEK	skin
35	chr12:117349400-117350000	Flanking Active TSS	Osteobl	bone
36	chr12:117349400-117350200	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr12:117349400-117350200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:117349400-117350200	Enhancers	Spleen	Spleen
39	chr12:117349400-117354400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:117349600-117350000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:117349600-117350000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:117349600-117350000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:117349600-117350000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:117349600-117350000	Flanking Active TSS	HepG2	liver
45	chr12:117349600-117350200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:117349600-117350200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:117349600-117350200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:117349600-117350200	Enhancers	Liver	Liver
49	chr12:117349600-117350200	Enhancers	Placenta	Placenta
50	chr12:117349600-117350200	Enhancers	Left Ventricle	heart

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