Variant report

Variant	rs11168758
Chromosome Location	chr12:49245630-49245631
allele	A/G
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49075230..49077849-chr12:49244507..49246836,3	MCF-7	breast:
2	chr12:49245536..49246206-chr17:7387532..7388069,2	HCT-116	colon:
3	chr12:49244149..49247655-chr12:49370994..49373492,3	K562	blood:
4	chr12:49213747..49217997-chr12:49244325..49246364,4	MCF-7	breast:
5	chr12:49244315..49247663-chr12:49350223..49353820,7	MCF-7	breast:
6	chr12:49244558..49246896-chr12:49411138..49413434,2	MCF-7	breast:
7	chr12:49245591..49248128-chr12:49284158..49286872,6	MCF-7	breast:
8	chr12:49245526..49248872-chr12:49257959..49262254,6	K562	blood:
9	chr12:49245617..49246517-chr15:45459356..45460000,2	Hela-S3	cervix:
10	chr12:49228181..49230534-chr12:49244450..49246157,2	MCF-7	breast:
11	chr12:49243837..49250262-chr12:49279824..49286856,16	MCF-7	breast:
12	chr12:49226521..49228044-chr12:49243718..49245705,2	MCF-7	breast:
13	chr12:49244737..49248613-chr12:49256890..49261439,8	MCF-7	breast:
14	chr12:49245490..49246381-chr19:17970639..17971484,2	Hela-S3	cervix:
15	chr12:49211528..49213984-chr12:49245002..49247002,2	K562	blood:
16	chr12:49207378..49214966-chr12:49243991..49247655,21	MCF-7	breast:
17	chr12:49244593..49247064-chr12:49254906..49256419,2	MCF-7	breast:
18	chr12:49245554..49246083-chr9:6757387..6757976,2	Hela-S3	cervix:
19	chr12:49243936..49245890-chr12:49261008..49263611,2	K562	blood:
20	chr12:49230688..49233544-chr12:49244460..49246461,3	MCF-7	breast:
21	chr12:49203980..49213270-chr12:49239370..49250118,15	MCF-7	breast:
22	chr12:49244090..49248564-chr12:49349147..49352476,5	MCF-7	breast:
23	chr12:49245571..49247224-chr12:49253107..49255933,2	K562	blood:
24	chr12:49218446..49220087-chr12:49244842..49246602,2	K562	blood:
25	chr12:49206322..49209898-chr12:49244293..49247319,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172602	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000107077	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000199394	Chromatin interaction
ENSG00000125084	Chromatin interaction
ENSG00000139620	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000105640	Chromatin interaction
ENSG00000272822	Chromatin interaction
ENSG00000174243	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000259539	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10875880	0.95[CEU][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs11168756	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28735279	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61941109	1.00[AMR][1000 genomes];1.00[EUR][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	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11168758	DDX23	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49244400-49246000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:49244400-49246600	Active TSS	Lung	lung
3	chr12:49244400-49246800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr12:49244600-49246400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:49244800-49245800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr12:49244800-49246400	Active TSS	A549	lung
7	chr12:49244800-49246600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:49244800-49246600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr12:49244800-49246600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:49245000-49245800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr12:49245000-49246200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:49245000-49246200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:49245000-49246200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:49245000-49246200	Active TSS	Duodenum Mucosa	Duodenum
15	chr12:49245000-49246200	Active TSS	Dnd41	blood
16	chr12:49245000-49246200	Active TSS	NH-A	brain
17	chr12:49245000-49246400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:49245000-49246400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr12:49245000-49246400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:49245000-49246400	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:49245000-49246400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:49245000-49246400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:49245000-49246400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr12:49245000-49246400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr12:49245000-49246400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:49245000-49246400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:49245000-49246400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:49245000-49246400	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr12:49245000-49246400	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr12:49245000-49246400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr12:49245000-49246400	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr12:49245000-49246400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr12:49245000-49246400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:49245000-49246400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:49245000-49246400	Active TSS	Brain Anterior Caudate	brain
36	chr12:49245000-49246400	Active TSS	Brain Cingulate Gyrus	brain
37	chr12:49245000-49246400	Active TSS	Brain Hippocampus Middle	brain
38	chr12:49245000-49246400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr12:49245000-49246400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:49245000-49246400	Active TSS	Colon Smooth Muscle	Colon
41	chr12:49245000-49246400	Active TSS	Fetal Brain Female	brain
42	chr12:49245000-49246400	Active TSS	Fetal Intestine Large	intestine
43	chr12:49245000-49246400	Active TSS	Fetal Intestine Small	intestine
44	chr12:49245000-49246400	Active TSS	Fetal Kidney	kidney
45	chr12:49245000-49246400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr12:49245000-49246400	Active TSS	Fetal Lung	lung
47	chr12:49245000-49246400	Active TSS	Fetal Stomach	stomach
48	chr12:49245000-49246400	Active TSS	Pancreas	Pancrea
49	chr12:49245000-49246400	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr12:49245000-49246400	Active TSS	Rectal Smooth Muscle	rectum

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