Variant report

Variant	rs1994772
Chromosome Location	chr3:111857750-111857751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10511306	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10511307	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11928130	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13069933	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1388855	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1492480	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1492481	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1492483	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492484	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492485	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492486	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1602672	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1948404	0.84[EUR][1000 genomes]
rs2029638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7651558	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs879652	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs950528	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv1010219	chr3:111856709-111923647	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111852200-111863400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:111853400-111867400	Weak transcription	Gastric	stomach
3	chr3:111854600-111858000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:111854800-111857800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:111855000-111858000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:111855200-111858000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:111855400-111858000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:111856200-111857800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:111856200-111860200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:111856200-111867400	Weak transcription	Thymus	Thymus
11	chr3:111856200-111867600	Weak transcription	Left Ventricle	heart
12	chr3:111856400-111857800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr3:111856400-111861800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:111856400-111862400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:111857000-111858400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr3:111857000-111861000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:111857200-111860200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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