Variant report

Variant	rs8075306
Chromosome Location	chr17:17268266-17268267
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10521328	1.00[ASN][1000 genomes]
rs16961593	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs16961599	0.85[ASN][1000 genomes]
rs242251	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs242252	0.85[ASN][1000 genomes]
rs6502581	1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6502582	1.00[ASN][1000 genomes]
rs6502583	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7210856	1.00[ASN][1000 genomes]
rs7216091	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222318	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7223820	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981909	0.85[ASN][1000 genomes]
rs73981911	0.92[ASN][1000 genomes]
rs955893	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17265000-17268400	Enhancers	Fetal Muscle Leg	muscle
2	chr17:17265200-17268400	Enhancers	Fetal Thymus	thymus
3	chr17:17266600-17268400	Enhancers	Spleen	Spleen
4	chr17:17267200-17270000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr17:17267800-17268400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr17:17267800-17268800	Weak transcription	Dnd41	blood
7	chr17:17267800-17279400	Weak transcription	Right Ventricle	heart
8	chr17:17268000-17270000	Weak transcription	Right Atrium	heart
9	chr17:17268000-17270000	Weak transcription	NHDF-Ad	bronchial
10	chr17:17268000-17271200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:17268200-17268600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:17268200-17269000	Weak transcription	Adipose Nuclei	Adipose
13	chr17:17268200-17269000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr17:17268200-17269000	Weak transcription	Thymus	Thymus
15	chr17:17268200-17269800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:17268200-17269800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr17:17268200-17270000	Weak transcription	HepG2	liver
18	chr17:17268200-17271000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:17268200-17272800	Weak transcription	Fetal Intestine Large	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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