Variant report

Variant	rs993176
Chromosome Location	chr8:107092613-107092614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107071595..107074143-chr8:107092425..107094759,2	K562	blood:

Variant related genes	Relation type
ENSG00000251003	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11773948	0.81[EUR][1000 genomes]
rs1366966	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1429673	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1429677	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1429679	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1429682	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1540419	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16873995	0.94[CEU][hapmap];1.00[YRI][hapmap]
rs16874116	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1864318	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1864319	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2082066	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55739474	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55874550	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56098431	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56141525	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56172266	0.81[EUR][1000 genomes]
rs57615676	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62527364	0.83[EUR][1000 genomes]
rs62527371	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62527406	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62527409	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469029	0.80[EUR][1000 genomes]
rs6469036	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6469037	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6984942	0.85[EUR][1000 genomes]
rs7007882	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7841482	1.00[CEU][hapmap];0.90[YRI][hapmap];0.81[EUR][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	nsv1021369	chr8:106493317-107243322	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv611840	chr8:106913294-107265915	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv611842	chr8:107076421-107115482	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv891262	chr8:107076421-107209378	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv611843	chr8:107088426-107104545	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv2830191	chr8:107088426-107115482	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107090400-107095000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:107090600-107099000	Weak transcription	Esophagus	oesophagus
3	chr8:107091400-107092800	Enhancers	Aorta	Aorta
4	chr8:107091800-107092800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:107091800-107093400	Enhancers	Brain Hippocampus Middle	brain
6	chr8:107092000-107092800	Weak transcription	Adipose Nuclei	Adipose
7	chr8:107092000-107092800	Enhancers	HUVEC	blood vessel
8	chr8:107092200-107092800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr8:107092200-107092800	Enhancers	NHLF	lung
10	chr8:107092400-107093000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:107092400-107093000	Enhancers	Ovary	ovary
12	chr8:107092400-107093600	Enhancers	Stomach Smooth Muscle	stomach
13	chr8:107092400-107094800	Enhancers	NH-A	brain
14	chr8:107092400-107095400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:107092400-107096200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:107092400-107096200	Enhancers	Osteobl	bone
17	chr8:107092600-107092800	Enhancers	Duodenum Mucosa	Duodenum
18	chr8:107092600-107093000	Enhancers	Brain Cingulate Gyrus	brain
19	chr8:107092600-107093000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr8:107092600-107094200	Weak transcription	Brain Anterior Caudate	brain

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