Variant report

Variant	rs11183675
Chromosome Location	chr12:47356089-47356090
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11183673	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183676	0.85[ASN][1000 genomes]
rs12581646	1.00[EUR][1000 genomes]
rs17097420	1.00[AFR][1000 genomes]
rs17097467	1.00[CEU][hapmap]
rs17097509	1.00[CEU][hapmap]
rs2075335	1.00[CEU][hapmap]
rs2109125	1.00[CEU][hapmap]
rs2287473	1.00[CEU][hapmap]
rs2302855	1.00[CEU][hapmap]
rs2429466	1.00[CEU][hapmap]
rs2429467	1.00[CEU][hapmap]
rs2897981	1.00[CEU][hapmap]
rs34778442	1.00[AFR][1000 genomes]
rs4623984	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768765	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73287907	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7963571	0.91[EUR][1000 genomes]
rs7966649	0.88[AMR][1000 genomes];0.96[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	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47350800-47357400	Weak transcription	Left Ventricle	heart
2	chr12:47353400-47357000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:47353400-47357600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:47353400-47357600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:47353400-47358000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:47353600-47356200	Weak transcription	Fetal Heart	heart
7	chr12:47353600-47357200	Weak transcription	HMEC	breast
8	chr12:47353600-47357400	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:47353600-47357400	Weak transcription	NHEK	skin
10	chr12:47353600-47357800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:47353600-47357800	Weak transcription	NH-A	brain
12	chr12:47353600-47358000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:47353800-47356600	Weak transcription	NHDF-Ad	bronchial
14	chr12:47353800-47357200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:47353800-47357400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:47353800-47357800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:47353800-47357800	Weak transcription	HUVEC	blood vessel
18	chr12:47353800-47358000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:47353800-47358000	Weak transcription	NHLF	lung
20	chr12:47354000-47357600	Weak transcription	A549	lung
21	chr12:47354000-47357800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:47354200-47357600	Weak transcription	Osteobl	bone
23	chr12:47354400-47356600	Weak transcription	HSMM	muscle
24	chr12:47354400-47357200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:47354400-47357200	Weak transcription	Liver	Liver
26	chr12:47354400-47357400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:47354800-47356400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:47354800-47357000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:47354800-47357200	Weak transcription	HSMMtube	muscle
30	chr12:47354800-47357400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:47354800-47357400	Weak transcription	Psoas Muscle	Psoas
32	chr12:47354800-47359600	Weak transcription	Esophagus	oesophagus
33	chr12:47355000-47356400	Weak transcription	Hela-S3	cervix
34	chr12:47355000-47356600	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:47355200-47357800	Enhancers	Fetal Brain Male	brain
36	chr12:47355600-47357800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:47356000-47356200	Enhancers	Right Atrium	heart

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