Variant report

Variant	rs60775983
Chromosome Location	chr5:124204071-124204072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10038794	0.82[ASN][1000 genomes]
rs10051446	0.82[ASN][1000 genomes]
rs10058365	0.80[ASN][1000 genomes]
rs10077638	0.81[ASN][1000 genomes]
rs10463783	0.90[ASN][1000 genomes]
rs10478645	0.87[ASN][1000 genomes]
rs11241775	0.89[ASN][1000 genomes]
rs12652556	0.89[ASN][1000 genomes]
rs12656194	0.90[ASN][1000 genomes]
rs12658172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59020249	0.87[ASN][1000 genomes]
rs62370848	0.83[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	nsv830473	chr5:124006421-124212038	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124201000-124204200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:124201000-124206200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:124201200-124209200	Enhancers	Fetal Lung	lung
4	chr5:124201200-124213200	Weak transcription	Pancreas	Pancrea
5	chr5:124201800-124204200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:124201800-124206000	Enhancers	Ovary	ovary
7	chr5:124202000-124207400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:124202600-124212000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:124202800-124205800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:124203000-124204200	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:124203000-124205200	Weak transcription	Fetal Heart	heart
12	chr5:124203000-124207000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:124203000-124207200	Weak transcription	Fetal Stomach	stomach
14	chr5:124203000-124208000	Weak transcription	Stomach Mucosa	stomach
15	chr5:124203000-124209600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:124203000-124217800	Weak transcription	Brain Substantia Nigra	brain
17	chr5:124203200-124204400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:124203200-124204600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:124203200-124205000	Weak transcription	Brain Anterior Caudate	brain
20	chr5:124203200-124205200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:124203200-124205400	Weak transcription	Psoas Muscle	Psoas
22	chr5:124203200-124205600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:124203200-124206000	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:124203200-124206000	Enhancers	HSMM	muscle
25	chr5:124203200-124206200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:124203200-124206200	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:124203200-124206200	Weak transcription	Fetal Brain Female	brain
28	chr5:124203200-124206600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:124203200-124206600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:124203200-124206600	Enhancers	Dnd41	blood
31	chr5:124203200-124207200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:124203200-124207400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:124203200-124207600	Enhancers	NHDF-Ad	bronchial
34	chr5:124203200-124207800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:124203200-124208000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:124203200-124210800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:124203200-124210800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:124203200-124211000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:124203400-124205200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:124203400-124205200	Weak transcription	Fetal Kidney	kidney
41	chr5:124203400-124205400	Weak transcription	Brain Germinal Matrix	brain
42	chr5:124203400-124206000	Weak transcription	Fetal Brain Male	brain
43	chr5:124203400-124208000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr5:124203400-124217400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:124203600-124204200	Weak transcription	NH-A	brain
46	chr5:124203600-124205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:124203800-124208000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:124203800-124212200	Weak transcription	HSMMtube	muscle
49	chr5:124204000-124205200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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