Variant report

Variant	rs6678627
Chromosome Location	chr1:212363072-212363073
allele	A/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	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11119881	0.91[ASN][1000 genomes]
rs1472225	0.86[ASN][1000 genomes]
rs1873298	0.91[ASN][1000 genomes]
rs1962127	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1967115	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4951578	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7548606	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs903123	0.86[ASN][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	chr1:212359400-212363400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:212359600-212363200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:212359600-212363200	Enhancers	Adipose Nuclei	Adipose
4	chr1:212359600-212363200	Enhancers	Spleen	Spleen
5	chr1:212360400-212363200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:212360400-212365600	Weak transcription	HepG2	liver
7	chr1:212360600-212363400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:212361200-212363600	Enhancers	Lung	lung
9	chr1:212361400-212363200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:212361800-212363200	Enhancers	Right Atrium	heart
11	chr1:212362400-212363200	Enhancers	Fetal Muscle Trunk	muscle
12	chr1:212362400-212363200	Enhancers	Psoas Muscle	Psoas
13	chr1:212362400-212363800	Enhancers	Left Ventricle	heart
14	chr1:212363000-212363200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:212363000-212365600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:212363000-212365600	Weak transcription	NHEK	skin

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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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