Variant report

Variant	rs11183518
Chromosome Location	chr12:46912810-46912811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46912402..46915807-chr12:46917000..46920176,3	MCF-7	breast:
2	chr12:46908061..46910450-chr12:46912545..46914352,2	K562	blood:
3	chr12:46912625..46916029-chr12:46919758..46923382,3	K562	blood:
4	chr12:46764738..46768711-chr12:46912622..46917783,6	MCF-7	breast:
5	chr12:46764341..46767091-chr12:46912635..46915718,3	K562	blood:
6	chr12:46912707..46915365-chr12:46917310..46918861,2	K562	blood:
7	chr12:46912293..46914214-chr12:46916250..46918068,2	K562	blood:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11183456	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11536241	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46903400-46917800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:46905400-46915800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:46908000-46917400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:46908400-46914400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:46909400-46916000	Enhancers	Ovary	ovary
6	chr12:46909600-46916400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:46910000-46915800	Weak transcription	HUVEC	blood vessel
8	chr12:46910200-46915000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:46910400-46913000	Flanking Active TSS	GM12878-XiMat	blood
10	chr12:46910400-46913600	Enhancers	Fetal Stomach	stomach
11	chr12:46910400-46914800	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:46910600-46914600	Weak transcription	Fetal Heart	heart
13	chr12:46910800-46913600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:46910800-46914800	Weak transcription	Placenta	Placenta
15	chr12:46910800-46915600	Weak transcription	A549	lung
16	chr12:46910800-46918000	Weak transcription	Psoas Muscle	Psoas
17	chr12:46910800-46920000	Enhancers	Fetal Lung	lung
18	chr12:46911000-46914800	Weak transcription	Spleen	Spleen
19	chr12:46911000-46915000	Weak transcription	Right Ventricle	heart
20	chr12:46911000-46917000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:46911000-46917000	Weak transcription	Lung	lung
22	chr12:46911000-46917200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:46911200-46913200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:46911200-46913200	Weak transcription	Right Atrium	heart
25	chr12:46911200-46913400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:46911200-46913400	Enhancers	Colon Smooth Muscle	Colon
27	chr12:46911200-46913800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:46911200-46914400	Weak transcription	K562	blood
29	chr12:46911200-46914800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:46911200-46915000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:46911200-46915000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:46911200-46915800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:46911200-46917200	Weak transcription	Left Ventricle	heart
34	chr12:46911200-46917200	Weak transcription	Thymus	Thymus
35	chr12:46911200-46918000	Weak transcription	Pancreas	Pancrea
36	chr12:46911400-46915000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:46911400-46917200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:46911400-46917200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:46911400-46917200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:46911600-46913000	Enhancers	NHDF-Ad	bronchial
41	chr12:46911600-46913400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:46911600-46913400	Enhancers	Osteobl	bone
43	chr12:46911600-46913800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:46911600-46915000	Weak transcription	HSMM	muscle
45	chr12:46911600-46915800	Weak transcription	NHEK	skin
46	chr12:46911600-46916400	Weak transcription	Dnd41	blood
47	chr12:46911600-46916800	Weak transcription	Fetal Thymus	thymus
48	chr12:46911600-46922800	Weak transcription	Primary B cells from cord blood	blood
49	chr12:46911800-46913200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:46911800-46913200	Enhancers	Rectal Smooth Muscle	rectum

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