Variant report

Variant	rs17414527
Chromosome Location	chr8:103063897-103063898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1465165	1.00[AFR][1000 genomes]
rs1465166	1.00[AFR][1000 genomes]
rs16868879	1.00[MKK][hapmap]
rs17414289	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17414892	1.00[AFR][1000 genomes]
rs17415702	1.00[AFR][1000 genomes]
rs17415729	1.00[AFR][1000 genomes]
rs17498430	0.91[EUR][1000 genomes]
rs17498920	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs17499768	1.00[AFR][1000 genomes]
rs17500046	1.00[AFR][1000 genomes]
rs17500151	1.00[AFR][1000 genomes]
rs17500306	1.00[AFR][1000 genomes]
rs17500367	1.00[AFR][1000 genomes]
rs17506740	1.00[AFR][1000 genomes]
rs57919082	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv891231	chr8:103001914-103076379	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv891234	chr8:103020391-103113701	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv891236	chr8:103039917-103070301	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv891237	chr8:103039917-103113701	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv891238	chr8:103055520-103116959	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
11	esv3334374	chr8:103062126-103064224	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103051600-103064600	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:103053800-103072600	Weak transcription	Aorta	Aorta
3	chr8:103056600-103066000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:103057200-103064600	Weak transcription	Right Atrium	heart
5	chr8:103057400-103067200	Weak transcription	Fetal Heart	heart
6	chr8:103057400-103068600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:103057600-103068600	Weak transcription	Left Ventricle	heart
8	chr8:103057600-103068800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:103063200-103065800	Enhancers	Ovary	ovary
10	chr8:103063200-103066600	Enhancers	Fetal Brain Female	brain
11	chr8:103063400-103064600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:103063600-103064000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:103063600-103066600	Weak transcription	Psoas Muscle	Psoas
14	chr8:103063800-103067000	Enhancers	Fetal Brain Male	brain

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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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