Variant report

Variant	rs2016991
Chromosome Location	chr1:186960684-186960685
allele	A/G
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]
rs10157406	1.00[EUR][1000 genomes]
rs10798077	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10911978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1555205	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2307198	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2383557	0.92[EUR][1000 genomes]
rs4650711	0.92[EUR][1000 genomes]
rs4650712	0.96[EUR][1000 genomes]
rs4650713	0.96[EUR][1000 genomes]
rs4650714	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6663060	1.00[AMR][1000 genomes]
rs6672835	0.96[EUR][1000 genomes]
rs6674263	0.92[EUR][1000 genomes]
rs6690278	1.00[EUR][1000 genomes]
rs6696994	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6700651	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6703327	1.00[AFR][1000 genomes]
rs981581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9970500	1.00[AMR][1000 genomes];0.87[EUR][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	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186949800-186970000	Weak transcription	Hela-S3	cervix
2	chr1:186950400-186961400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:186951800-186963200	Weak transcription	NHEK	skin
4	chr1:186952000-186969800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:186953000-186963200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:186953200-186970800	Weak transcription	Adipose Nuclei	Adipose
7	chr1:186953600-186969800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:186955400-186961000	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:186956400-186961400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:186959400-186961000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:186959400-186967400	Weak transcription	HUVEC	blood vessel
12	chr1:186959600-186961200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:186959600-186962200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:186959600-186963200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr1:186959600-186970000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:186959600-186970200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:186959800-186961400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:186959800-186963400	Weak transcription	Monocytes-CD14+_RO01746	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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