Variant report

Variant	rs12549573
Chromosome Location	chr8:61139280-61139281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10081509	0.82[EUR][1000 genomes]
rs10504307	0.82[CEU][hapmap]
rs11780368	0.97[ASN][1000 genomes]
rs11784742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17811959	0.82[CEU][hapmap]
rs28608109	0.82[CEU][hapmap]
rs4738799	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62511578	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62511580	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6471849	0.98[ASN][1000 genomes]
rs6471850	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6987086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7013855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7462315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9969468	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831332	chr8:60985600-61157730	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 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	chr8:61105800-61149400	Weak transcription	Gastric	stomach
2	chr8:61117800-61167400	Weak transcription	Fetal Stomach	stomach
3	chr8:61119400-61139400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:61120600-61158200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:61127600-61146000	Weak transcription	Brain Anterior Caudate	brain
6	chr8:61129000-61149400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:61129600-61139400	Strong transcription	K562	blood
8	chr8:61133600-61141800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:61133600-61146000	Weak transcription	Left Ventricle	heart
10	chr8:61135400-61142400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:61137000-61139600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:61137400-61139800	Enhancers	Fetal Intestine Large	intestine
13	chr8:61138000-61139400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:61138000-61139600	Enhancers	Fetal Intestine Small	intestine
15	chr8:61138400-61147200	Weak transcription	Right Atrium	heart
16	chr8:61138400-61150400	Weak transcription	A549	lung
17	chr8:61138600-61141800	Weak transcription	Placenta	Placenta
18	chr8:61138800-61139400	Strong transcription	Primary hematopoietic stem cells	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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