Variant report

Variant	rs17091009
Chromosome Location	chr12:42551345-42551346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42536641..42539823-chr12:42545599..42552985,7	MCF-7	breast:
2	chr12:42538421..42542265-chr12:42549235..42553019,4	K562	blood:

Variant related genes	Relation type
ENSG00000151233	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17090889	1.00[AMR][1000 genomes]
rs17090923	1.00[AMR][1000 genomes]
rs17091030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091065	1.00[AMR][1000 genomes]
rs17091072	1.00[AMR][1000 genomes]
rs1882664	1.00[AMR][1000 genomes]
rs1882665	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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42539200-42552200	Weak transcription	HSMM	muscle
2	chr12:42539200-42563800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:42539400-42551400	Weak transcription	Primary B cells from cord blood	blood
4	chr12:42539400-42551800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:42539400-42554000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:42539400-42554200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:42539400-42556000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:42539400-42577000	Weak transcription	Aorta	Aorta
9	chr12:42539400-42583200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:42539600-42551600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:42539600-42551800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:42539600-42552200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:42539600-42552400	Weak transcription	HUVEC	blood vessel
14	chr12:42539600-42553600	Weak transcription	Adipose Nuclei	Adipose
15	chr12:42539600-42553800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:42539600-42553800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:42539600-42555800	Weak transcription	Brain Substantia Nigra	brain
18	chr12:42539600-42556200	Weak transcription	HSMMtube	muscle
19	chr12:42539600-42574000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:42539600-42578400	Weak transcription	Left Ventricle	heart
21	chr12:42539600-42586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:42539800-42551600	Weak transcription	GM12878-XiMat	blood
23	chr12:42539800-42551800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr12:42539800-42551800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:42539800-42553000	Weak transcription	Hela-S3	cervix
26	chr12:42539800-42554200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:42539800-42568600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:42539800-42569000	Weak transcription	Fetal Kidney	kidney
29	chr12:42539800-42582800	Weak transcription	Spleen	Spleen
30	chr12:42539800-42607800	Weak transcription	Pancreas	Pancrea
31	chr12:42540000-42552200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:42540000-42552200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:42540000-42553800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr12:42540000-42556000	Weak transcription	Fetal Intestine Small	intestine
35	chr12:42540000-42574800	Weak transcription	Brain Anterior Caudate	brain
36	chr12:42541200-42553600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:42543800-42551800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:42545200-42553800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr12:42545400-42554200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:42545600-42553200	Weak transcription	NH-A	brain
41	chr12:42546000-42564400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:42546400-42553800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:42546600-42553800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:42547200-42553000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:42547200-42563800	Weak transcription	Fetal Stomach	stomach
46	chr12:42547600-42554000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:42547800-42610400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:42548000-42551800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:42548200-42553800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:42548400-42553000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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