Variant report

Variant	rs7516619
Chromosome Location	chr1:212354443-212354444
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10779572	1.00[ASN][1000 genomes]
rs10863949	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10863950	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119881	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1472225	0.92[CEU][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes]
rs1873298	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2358453	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7549707	0.93[EUR][1000 genomes]
rs903123	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212336800-212359600	Weak transcription	Dnd41	blood
2	chr1:212350600-212359600	Weak transcription	K562	blood
3	chr1:212352600-212355800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:212352600-212357200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:212352600-212357200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr1:212352800-212356000	Weak transcription	Adipose Nuclei	Adipose
7	chr1:212353000-212357400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:212353000-212357400	Weak transcription	Spleen	Spleen
9	chr1:212353000-212361200	Weak transcription	Right Atrium	heart
10	chr1:212353200-212354600	Weak transcription	Left Ventricle	heart
11	chr1:212353200-212357400	Weak transcription	Placenta	Placenta
12	chr1:212353200-212361200	Weak transcription	Lung	lung
13	chr1:212354000-212360400	Weak transcription	Esophagus	oesophagus
14	chr1:212354200-212359800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:212354200-212360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:212354200-212361200	Weak transcription	HMEC	breast

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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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