Variant report

Variant	rs56193096
Chromosome Location	chr8:100502660-100502661
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1039448	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10955207	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10955213	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10955215	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11986595	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12234903	0.82[AMR][1000 genomes]
rs12541387	0.80[ASN][1000 genomes]
rs12542214	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12544095	0.80[ASN][1000 genomes]
rs12550617	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12676009	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12681244	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1386377	0.80[ASN][1000 genomes]
rs2035619	0.80[ASN][1000 genomes]
rs2280061	0.82[ASN][1000 genomes]
rs3103102	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3103702	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3103713	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3103715	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3103716	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3105179	0.83[AMR][1000 genomes]
rs3105182	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3105183	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3105184	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3105188	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3105189	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3105196	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3105197	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3105200	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3105202	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3134147	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3134148	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3134149	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3134151	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3134153	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3134154	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3134157	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3134160	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3134165	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3134169	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3134170	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3134172	0.83[AMR][1000 genomes]
rs3134186	0.83[AMR][1000 genomes]
rs3134187	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3134299	0.83[AMR][1000 genomes]
rs3134302	0.83[AMR][1000 genomes]
rs3134304	0.80[AMR][1000 genomes]
rs4735615	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4735619	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4735620	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735627	0.83[ASN][1000 genomes]
rs56174158	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57636892	0.80[ASN][1000 genomes]
rs59375661	0.83[ASN][1000 genomes]
rs61097926	0.81[ASN][1000 genomes]
rs6468690	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6985574	0.80[ASN][1000 genomes]
rs717365	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs721995	0.83[ASN][1000 genomes]
rs72674642	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72674644	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72674651	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72674675	0.81[ASN][1000 genomes]
rs72674698	0.80[ASN][1000 genomes]
rs72676204	0.80[ASN][1000 genomes]
rs7825783	0.80[ASN][1000 genomes]
rs957539	0.82[AMR][1000 genomes]
rs965657	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1031100	chr8:100290887-100508952	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv539697	chr8:100290887-100508952	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
12	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
13	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
14	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
15	nsv933879	chr8:100417371-100622310	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
17	nsv1023922	chr8:100474230-100702005	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100473200-100504600	Weak transcription	Aorta	Aorta
2	chr8:100473200-100508000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:100473200-100510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:100473400-100526000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:100473600-100504400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:100473600-100508000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:100473600-100508000	Weak transcription	Small Intestine	intestine
8	chr8:100474000-100510800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:100474400-100515400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:100477200-100507400	Weak transcription	Osteobl	bone
11	chr8:100478200-100507200	Weak transcription	NH-A	brain
12	chr8:100479400-100508000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:100479800-100504400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:100481800-100504400	Weak transcription	Fetal Intestine Small	intestine
15	chr8:100487000-100512800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:100488000-100504400	Weak transcription	Gastric	stomach
17	chr8:100490200-100504400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:100490600-100506600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:100491200-100537000	Weak transcription	Placenta	Placenta
20	chr8:100492200-100508000	Weak transcription	Right Ventricle	heart
21	chr8:100493200-100510600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:100493400-100504400	Weak transcription	Fetal Stomach	stomach
23	chr8:100493400-100511000	Weak transcription	HSMMtube	muscle
24	chr8:100494000-100508000	Weak transcription	Fetal Kidney	kidney
25	chr8:100494000-100516600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:100494400-100504400	Weak transcription	Fetal Intestine Large	intestine
27	chr8:100494400-100504600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:100494400-100504800	Weak transcription	Fetal Lung	lung
29	chr8:100494400-100508000	Weak transcription	Left Ventricle	heart
30	chr8:100494400-100508000	Weak transcription	Pancreas	Pancrea
31	chr8:100494400-100508000	Weak transcription	Psoas Muscle	Psoas
32	chr8:100494400-100511000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:100494400-100511200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:100494600-100511800	Weak transcription	Brain Substantia Nigra	brain
35	chr8:100495000-100504400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:100495200-100504800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr8:100495200-100511000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:100495200-100532600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:100495400-100504800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:100495400-100510400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:100495400-100511000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:100495600-100511200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr8:100495800-100504600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:100496000-100504200	Weak transcription	Primary T cells from cord blood	blood
45	chr8:100496000-100504200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:100496000-100511000	Weak transcription	Dnd41	blood
47	chr8:100496200-100504600	Weak transcription	Adipose Nuclei	Adipose
48	chr8:100496200-100504600	Weak transcription	Liver	Liver
49	chr8:100496200-100510400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:100496200-100510800	Weak transcription	Primary B cells from peripheral blood	blood

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