Variant report

Variant	rs9641
Chromosome Location	chr5:80715913-80715914
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80715728..80718052-chr5:80720776..80722982,2	K562	blood:
2	chr5:80706922..80709797-chr5:80713834..80717319,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10036942	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10044074	0.87[TSI][hapmap]
rs10050981	0.89[ASN][1000 genomes]
rs10054360	0.89[ASN][1000 genomes]
rs10056236	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10057707	1.00[JPT][hapmap]
rs10060208	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10060828	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064862	1.00[JPT][hapmap]
rs10066110	1.00[JPT][hapmap]
rs10474032	1.00[JPT][hapmap]
rs10474033	1.00[JPT][hapmap]
rs10474035	0.89[ASN][1000 genomes]
rs10514221	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10942268	1.00[JPT][hapmap]
rs11949541	1.00[GIH][hapmap];0.87[TSI][hapmap]
rs11949697	0.81[LWK][hapmap]
rs13354281	0.89[ASN][1000 genomes]
rs16876417	1.00[JPT][hapmap]
rs16898954	1.00[GIH][hapmap];0.87[TSI][hapmap]
rs16898989	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28546170	0.89[ASN][1000 genomes]
rs3805725	1.00[GIH][hapmap];0.87[TSI][hapmap]
rs56414093	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57587453	0.89[ASN][1000 genomes]
rs57681369	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58652756	0.89[ASN][1000 genomes]
rs61511117	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61561045	0.89[ASN][1000 genomes]
rs6452405	0.87[ASN][1000 genomes]
rs6452417	0.89[ASN][1000 genomes]
rs6869839	0.89[ASN][1000 genomes]
rs6872668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875373	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6875430	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6884379	0.89[ASN][1000 genomes]
rs6887061	0.89[ASN][1000 genomes]
rs6888401	1.00[JPT][hapmap]
rs6893886	0.89[ASN][1000 genomes]
rs6896772	1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897373	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6898968	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs73133677	0.89[ASN][1000 genomes]
rs73135608	0.89[ASN][1000 genomes]
rs73766239	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703543	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7717767	0.89[ASN][1000 genomes]
rs9293277	0.89[ASN][1000 genomes]
rs9986216	1.00[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80693400-80721600	Weak transcription	Fetal Brain Male	brain
2	chr5:80694800-80722400	Weak transcription	Aorta	Aorta
3	chr5:80695400-80716000	Weak transcription	Brain Angular Gyrus	brain
4	chr5:80697200-80739600	Weak transcription	Left Ventricle	heart
5	chr5:80697400-80716000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:80698200-80716000	Weak transcription	Thymus	Thymus
7	chr5:80701800-80722000	Weak transcription	Ovary	ovary
8	chr5:80702000-80716000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:80702200-80733600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:80703200-80779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:80703400-80716000	Weak transcription	Fetal Brain Female	brain
12	chr5:80704000-80716800	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:80704400-80721600	Weak transcription	Fetal Stomach	stomach
14	chr5:80704400-80747600	Weak transcription	Placenta	Placenta
15	chr5:80704600-80721600	Weak transcription	Fetal Kidney	kidney
16	chr5:80705600-80722000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:80706600-80716000	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:80707400-80748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:80708000-80722400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:80708000-80729400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:80708200-80721600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:80709200-80755200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr5:80710400-80718400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:80710400-80721600	Strong transcription	Fetal Thymus	thymus
25	chr5:80710600-80721600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:80711000-80716000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:80711200-80716000	Weak transcription	K562	blood
28	chr5:80712200-80717000	Enhancers	NHEK	skin
29	chr5:80712200-80721600	Strong transcription	Dnd41	blood
30	chr5:80712600-80716000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:80712600-80721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:80712600-80722200	Weak transcription	Psoas Muscle	Psoas
33	chr5:80713200-80716600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:80713600-80728200	Weak transcription	Lung	lung
35	chr5:80713600-80769200	Weak transcription	Esophagus	oesophagus
36	chr5:80713800-80717200	Weak transcription	GM12878-XiMat	blood
37	chr5:80713800-80719400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:80714000-80716400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr5:80714000-80717200	Enhancers	HMEC	breast
40	chr5:80714000-80717800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:80714000-80718400	Strong transcription	Primary B cells from cord blood	blood
42	chr5:80714200-80716200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:80714200-80716600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr5:80714200-80717000	Strong transcription	Fetal Lung	lung
45	chr5:80714200-80721600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr5:80714400-80717800	Strong transcription	Adipose Nuclei	Adipose
47	chr5:80714400-80719400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:80714800-80716600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:80714800-80717000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:80714800-80718800	Enhancers	Cortex derived primary cultured neurospheres	brain

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