Variant report

Variant	rs6989488
Chromosome Location	chr8:9936153-9936154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17151069	0.87[YRI][hapmap]
rs2628145	0.83[AMR][1000 genomes]
rs56668047	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58730040	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6986358	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6986375	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs6990444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7012397	0.84[YRI][hapmap]
rs73526797	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73526799	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7812824	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7834738	0.97[AFR][1000 genomes];1.00[AMR][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	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv869934	chr8:9806639-9940586	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018236	chr8:9915428-9940481	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9913200-9944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:9913600-9938600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:9914800-9947200	Weak transcription	Left Ventricle	heart
4	chr8:9920200-9938400	Weak transcription	Spleen	Spleen
5	chr8:9926400-9940400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:9929600-9947200	Weak transcription	Aorta	Aorta
7	chr8:9930200-9937200	Weak transcription	Primary B cells from cord blood	blood
8	chr8:9931200-9939600	Weak transcription	Primary T cells from cord blood	blood
9	chr8:9931200-9940200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:9932200-9939000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:9933400-9937000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:9934000-9939800	Weak transcription	Gastric	stomach
13	chr8:9934000-9940200	Weak transcription	Pancreas	Pancrea
14	chr8:9934400-9939800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:9935800-9936200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:9935800-9936200	Enhancers	Ovary	ovary
17	chr8:9935800-9936600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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