Variant report

Variant	rs71636251
Chromosome Location	chr5:80192358-80192359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80187844..80190265-chr5:80191742..80193498,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10041898	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10057510	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs184967	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs245337	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs245339	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs245344	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs245347	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs245350	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs245352	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs245353	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs245354	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs245358	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs245359	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs245361	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs245366	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs245368	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs245369	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs245370	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs245371	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs245375	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs245381	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs245382	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs245383	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs245384	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs245387	0.82[AMR][1000 genomes]
rs245394	0.83[EUR][1000 genomes]
rs245395	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs245396	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs32965	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs32966	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs32980	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs32984	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs32987	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs32994	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs32998	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs33000	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs33001	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35039937	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs39627	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs40408	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41100	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6869090	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6870306	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71636249	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71636250	0.96[AMR][1000 genomes];1.00[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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1799323	chr5:80179312-80219650	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80171400-80196400	Weak transcription	Hela-S3	cervix
2	chr5:80173600-80208000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:80174000-80197000	Weak transcription	Left Ventricle	heart
4	chr5:80180400-80215000	Weak transcription	Fetal Kidney	kidney
5	chr5:80181600-80193200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:80187000-80197200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:80187200-80193400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:80187200-80194000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:80187200-80196400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:80187200-80197000	Weak transcription	Liver	Liver
11	chr5:80187200-80197200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:80187400-80196800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:80187400-80197000	Weak transcription	Aorta	Aorta
14	chr5:80187400-80197000	Weak transcription	Thymus	Thymus
15	chr5:80187400-80197200	Weak transcription	Pancreas	Pancrea
16	chr5:80190000-80197000	Weak transcription	Primary T cells from cord blood	blood

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