Variant report

Variant	rs11169155
Chromosome Location	chr12:50172078-50172079
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50170142..50172988-chr12:50230634..50232481,2	MCF-7	breast:
2	chr12:50170539..50173499-chr12:50194309..50196084,2	MCF-7	breast:
3	chr12:50171566..50172481-chr12:50232494..50233075,6	MCF-7	breast:
4	chr12:50031633..50033303-chr12:50170292..50172237,2	MCF-7	breast:
5	chr12:50170723..50173215-chr12:50235786..50237664,2	MCF-7	breast:
6	chr12:50038102..50038980-chr12:50171749..50172585,3	K562	blood:
7	chr12:50170376..50172143-chr12:50258394..50260601,2	K562	blood:
8	chr12:50170135..50173080-chr12:50221067..50223815,3	K562	blood:
9	chr12:50167519..50174148-chr12:50230304..50237815,12	MCF-7	breast:
10	chr12:50170747..50172720-chr12:50179303..50181263,2	K562	blood:
11	chr12:50134836..50135546-chr12:50171623..50172147,2	MCF-7	breast:
12	chr12:50134293..50136830-chr12:50171612..50173479,2	K562	blood:
13	chr12:50170407..50172226-chr12:50230381..50232987,2	K562	blood:
14	chr12:50171688..50172586-chr12:50232580..50233542,2	K562	blood:
15	chr12:50038093..50038993-chr12:50171692..50172608,3	MCF-7	breast:
16	chr12:50171445..50173628-chr12:50220779..50222982,3	MCF-7	breast:
17	chr12:49995716..49998713-chr12:50171804..50173313,2	MCF-7	breast:
18	chr12:50134733..50136828-chr12:50171979..50173691,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139644	Chromatin interaction
ENSG00000258057	Chromatin interaction
ENSG00000167566	Chromatin interaction
ENSG00000161791	Chromatin interaction
ENSG00000186666	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11169150	0.82[AMR][1000 genomes]
rs11169153	0.90[AMR][1000 genomes]
rs11169154	0.87[AMR][1000 genomes]
rs11169156	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169160	0.88[AMR][1000 genomes]
rs1470907	0.91[AMR][1000 genomes]
rs1470908	0.81[AMR][1000 genomes]
rs3741554	0.82[AMR][1000 genomes]
rs3741555	0.88[AMR][1000 genomes]
rs3813526	0.88[AMR][1000 genomes]
rs4898531	0.81[AMR][1000 genomes]
rs897059	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50158800-50181600	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:50159200-50172200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:50159200-50177600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:50159400-50178600	Weak transcription	Right Ventricle	heart
5	chr12:50160600-50183400	Weak transcription	Primary T cells from cord blood	blood
6	chr12:50169600-50172200	Enhancers	Fetal Thymus	thymus
7	chr12:50170000-50172200	Enhancers	GM12878-XiMat	blood
8	chr12:50170000-50172400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:50170000-50184800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:50170200-50172200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr12:50170200-50172400	Enhancers	NHEK	skin
12	chr12:50170200-50184400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:50170600-50172200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:50170800-50176600	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:50170800-50191200	Weak transcription	Brain Substantia Nigra	brain
16	chr12:50171400-50172200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr12:50171400-50172400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:50171400-50172400	Enhancers	HepG2	liver
19	chr12:50171600-50172200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:50171600-50172400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr12:50171600-50172400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:50171600-50172400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr12:50171600-50172400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr12:50171600-50172400	Enhancers	Esophagus	oesophagus
25	chr12:50171600-50172400	Enhancers	K562	blood
26	chr12:50171600-50172800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:50171800-50172200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:50171800-50172200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:50171800-50172200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:50171800-50172200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:50171800-50172200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr12:50171800-50172200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
33	chr12:50171800-50172200	Enhancers	Right Atrium	heart
34	chr12:50171800-50172400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:50171800-50172400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:50171800-50172400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr12:50171800-50172400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:50171800-50172400	Enhancers	Liver	Liver
39	chr12:50171800-50172400	Enhancers	Placenta	Placenta
40	chr12:50171800-50172400	Enhancers	Dnd41	blood
41	chr12:50172000-50172200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:50172000-50172200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:50172000-50172200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr12:50172000-50172200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:50172000-50172200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:50172000-50172200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:50172000-50172200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:50172000-50172200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr12:50172000-50172200	Bivalent Enhancer	Fetal Stomach	stomach
50	chr12:50172000-50172200	Enhancers	Hela-S3	cervix

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