Variant report

Variant	rs11169171
Chromosome Location	chr12:50223719-50223720
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50220424..50223939-chr12:50233012..50238065,9	K562	blood:
2	chr12:50216965..50224421-chr12:50234869..50238255,17	MCF-7	breast:
3	chr12:50193481..50196503-chr12:50223666..50226555,3	MCF-7	breast:
4	chr12:50134058..50135690-chr12:50222133..50224042,2	MCF-7	breast:
5	chr12:50134227..50139526-chr12:50218668..50224471,9	K562	blood:
6	chr12:50183912..50186626-chr12:50222654..50225172,2	K562	blood:
7	chr12:50221331..50224259-chr12:50293444..50296232,2	K562	blood:
8	chr12:50133925..50140140-chr12:50217980..50223924,8	K562	blood:
9	chr12:50217971..50224800-chr12:50231213..50239207,27	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139644	Chromatin interaction
ENSG00000135472	Chromatin interaction
ENSG00000186666	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10875977	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169164	1.00[ASN][1000 genomes]
rs11169165	1.00[ASN][1000 genomes]
rs12315844	1.00[ASN][1000 genomes]
rs12321190	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123990	1.00[ASN][1000 genomes]
rs56751503	1.00[ASN][1000 genomes]
rs57832845	1.00[ASN][1000 genomes]
rs61691368	1.00[ASN][1000 genomes]
rs7137037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309054	1.00[ASN][1000 genomes]
rs73309064	1.00[ASN][1000 genomes]
rs73309090	1.00[ASN][1000 genomes]
rs73310907	1.00[ASN][1000 genomes]
rs7968164	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50222800-50235400	Weak transcription	Ovary	ovary
2	chr12:50222800-50236200	Weak transcription	Aorta	Aorta
3	chr12:50223000-50223800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:50223000-50226400	Weak transcription	Placenta	Placenta
5	chr12:50223000-50226400	Weak transcription	Osteobl	bone
6	chr12:50223000-50231800	Weak transcription	Pancreas	Pancrea
7	chr12:50223000-50232000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:50223000-50234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:50223000-50234600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:50223000-50235000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:50223000-50235400	Weak transcription	Brain Anterior Caudate	brain
12	chr12:50223000-50235400	Weak transcription	Left Ventricle	heart
13	chr12:50223000-50235600	Weak transcription	Brain Substantia Nigra	brain
14	chr12:50223000-50236000	Weak transcription	Lung	lung
15	chr12:50223200-50223800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:50223200-50226200	Weak transcription	HSMMtube	muscle
17	chr12:50223200-50226400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:50223200-50226400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:50223200-50226400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:50223200-50226600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:50223200-50226800	Weak transcription	NH-A	brain
22	chr12:50223200-50231800	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:50223200-50232000	Weak transcription	NHLF	lung
24	chr12:50223200-50235200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:50223200-50235200	Weak transcription	Liver	Liver
26	chr12:50223200-50235200	Weak transcription	HSMM	muscle
27	chr12:50223200-50235400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:50223200-50235400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:50223200-50235400	Weak transcription	Adipose Nuclei	Adipose
30	chr12:50223200-50235400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:50223200-50235400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:50223200-50235400	Weak transcription	Thymus	Thymus
33	chr12:50223200-50235400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:50223200-50235400	Weak transcription	NHDF-Ad	bronchial
35	chr12:50223200-50235600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:50223400-50224800	Weak transcription	HepG2	liver
37	chr12:50223400-50225400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:50223400-50225400	Weak transcription	K562	blood
39	chr12:50223400-50226000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:50223400-50226200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:50223400-50226200	Weak transcription	NHEK	skin
42	chr12:50223400-50226400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:50223400-50226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:50223400-50226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:50223400-50226400	Weak transcription	HMEC	breast
46	chr12:50223400-50231800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:50223400-50231800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:50223400-50231800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:50223400-50232000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:50223400-50232000	Weak transcription	Fetal Muscle Leg	muscle

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