Variant report

Variant	rs16997760
Chromosome Location	chr4:124663730-124663731
allele	C/T
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:9)

rs_ID	r²[population]
rs12233664	1.00[EUR][1000 genomes]
rs12233817	1.00[EUR][1000 genomes]
rs17007233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17007251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67776518	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72670538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72670539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72670547	1.00[EUR][1000 genomes]
rs72670548	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124651000-124666000	Weak transcription	Psoas Muscle	Psoas
2	chr4:124658400-124665000	Weak transcription	Fetal Intestine Small	intestine
3	chr4:124658800-124664800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:124660600-124665600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:124661800-124665000	Weak transcription	Adipose Nuclei	Adipose
6	chr4:124662800-124663800	Enhancers	HUVEC	blood vessel
7	chr4:124662800-124666000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:124663000-124663800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:124663200-124664000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:124663400-124663800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:124663400-124664600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:124663400-124665400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:124663400-124665800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:124663400-124665800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:124663400-124666000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:124663400-124666000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr4:124663600-124664600	Weak transcription	Fetal Lung	lung
18	chr4:124663600-124664800	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:124663600-124665200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr4:124663600-124666000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:124663600-124666000	Weak transcription	Brain Substantia Nigra	brain
22	chr4:124663600-124676600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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