Variant report

Variant	rs12807179
Chromosome Location	chr11:45866139-45866140
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45864486..45866793-chr11:45867171..45870088,4	K562	blood:
2	chr11:45823557..45830738-chr11:45863397..45877001,19	MCF-7	breast:
3	chr11:45863464..45866206-chr11:45876321..45877929,2	K562	blood:
4	chr11:45817744..45819460-chr11:45865438..45867718,2	K562	blood:
5	chr11:45864922..45867381-chr11:46128289..46130207,2	K562	blood:
6	chr11:45863403..45866148-chr11:46264573..46266399,2	MCF-7	breast:
7	chr11:45843885..45845928-chr11:45863860..45866238,2	MCF-7	breast:
8	chr11:45850331..45852679-chr11:45862063..45866263,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181830	Chromatin interaction
ENSG00000121671	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10838524	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11038672	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11038678	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11038694	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11605924	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11607182	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11607883	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12419690	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12794698	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12805422	0.83[EUR][1000 genomes]
rs1401419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34043764	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6485644	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6485645	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6485646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105751	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7112505	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7115753	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7121611	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933420	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7945565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7945689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45845800-45869000	Weak transcription	Right Atrium	heart
2	chr11:45856200-45868600	Weak transcription	Left Ventricle	heart
3	chr11:45865200-45867600	Weak transcription	Psoas Muscle	Psoas
4	chr11:45865200-45867600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:45865200-45867800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:45865200-45867800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:45865200-45867800	Weak transcription	Brain Angular Gyrus	brain
8	chr11:45865200-45867800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:45865200-45867800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:45865200-45867800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:45865200-45867800	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:45865200-45867800	Weak transcription	Placenta	Placenta
13	chr11:45865200-45867800	Weak transcription	Ovary	ovary
14	chr11:45865200-45867800	Weak transcription	NHDF-Ad	bronchial
15	chr11:45865200-45868000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:45865200-45868000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:45865200-45868000	Weak transcription	Brain Anterior Caudate	brain
18	chr11:45865200-45868000	Weak transcription	Brain Germinal Matrix	brain
19	chr11:45865200-45868000	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:45865200-45868000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:45865200-45868000	Weak transcription	Fetal Lung	lung
22	chr11:45865200-45868000	Weak transcription	Fetal Stomach	stomach
23	chr11:45865200-45868000	Weak transcription	HSMMtube	muscle
24	chr11:45865200-45868200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:45865200-45868200	Weak transcription	Brain Substantia Nigra	brain
26	chr11:45865200-45868200	Weak transcription	Colonic Mucosa	Colon
27	chr11:45865200-45868200	Weak transcription	HMEC	breast
28	chr11:45865200-45868400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:45865200-45868400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:45865200-45868400	Weak transcription	Stomach Mucosa	stomach
31	chr11:45865200-45869000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:45865400-45866600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr11:45865400-45866800	Weak transcription	Adipose Nuclei	Adipose
34	chr11:45865400-45867400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:45865400-45867600	Weak transcription	K562	blood
36	chr11:45865400-45867800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:45865400-45867800	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:45865400-45867800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:45865400-45867800	Weak transcription	Fetal Heart	heart
40	chr11:45865400-45867800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:45865400-45867800	Weak transcription	NHLF	lung
42	chr11:45865400-45868000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:45865400-45868000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr11:45865400-45868000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:45865400-45868000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:45865400-45868000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:45865400-45868000	Weak transcription	Dnd41	blood
48	chr11:45865400-45868200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:45865400-45868200	Weak transcription	GM12878-XiMat	blood
50	chr11:45865400-45868400	Enhancers	Liver	Liver

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