Variant report

Variant	rs12504223
Chromosome Location	chr4:141863287-141863288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1001487	0.84[EUR][1000 genomes]
rs11730659	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17424664	0.82[EUR][1000 genomes]
rs2321687	0.84[EUR][1000 genomes]
rs6857782	0.84[EUR][1000 genomes]
rs7666146	0.93[ASN][1000 genomes]
rs7689080	0.94[ASN][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	nsv880167	chr4:141616979-142092124	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830090	chr4:141770494-141947764	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830091	chr4:141796603-141980546	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv880168	chr4:141826780-141900370	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:141852000-141863400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:141855600-141867600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:141856000-141863400	Weak transcription	Ovary	ovary
4	chr4:141856000-141863400	Weak transcription	Right Atrium	heart
5	chr4:141856000-141875600	Weak transcription	Fetal Kidney	kidney
6	chr4:141856600-141864000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:141857600-141864800	Weak transcription	Adipose Nuclei	Adipose
8	chr4:141858600-141863400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:141859400-141864800	Enhancers	Osteobl	bone
10	chr4:141859400-141866200	Enhancers	Fetal Heart	heart
11	chr4:141859600-141868800	Weak transcription	A549	lung
12	chr4:141859800-141864400	Weak transcription	NHLF	lung
13	chr4:141859800-141875200	Weak transcription	Fetal Lung	lung
14	chr4:141860000-141863400	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:141860200-141864000	Weak transcription	NH-A	brain
16	chr4:141860200-141864600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:141860200-141864800	Weak transcription	Fetal Stomach	stomach
18	chr4:141860400-141864000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:141860400-141864800	Weak transcription	HSMM	muscle
20	chr4:141860400-141865400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:141861200-141863800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:141861200-141864000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:141861400-141863600	Weak transcription	NHDF-Ad	bronchial
24	chr4:141861400-141864000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:141861400-141864200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:141861400-141864200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:141861400-141864800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:141861400-141865400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:141861400-141865400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:141861400-141867400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:141861400-141876400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr4:141861400-141876600	Weak transcription	Aorta	Aorta
33	chr4:141861800-141868400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr4:141862000-141864000	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:141862000-141864800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:141862000-141865400	Weak transcription	Right Ventricle	heart
37	chr4:141862200-141863400	Weak transcription	Left Ventricle	heart
38	chr4:141862200-141864000	Weak transcription	HSMMtube	muscle
39	chr4:141862200-141891000	Weak transcription	Psoas Muscle	Psoas

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