Variant report

Variant	rs16926294
Chromosome Location	chr8:61485137-61485138
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	chr8:61483782..61485918-chr8:61489573..61491999,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1384687	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16926270	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16926284	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926324	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16926354	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16926358	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1893273	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1941462	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2007283	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2178953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735827	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55761966	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55831959	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55837608	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55841758	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56030634	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56114656	0.85[ASN][1000 genomes]
rs56123131	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56141796	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56160504	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56165842	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56192263	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56332284	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56342714	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57550331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58183709	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59162154	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59861870	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60012828	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60183060	0.85[ASN][1000 genomes]
rs60369157	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60991551	0.82[ASN][1000 genomes]
rs61120651	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471892	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6980590	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7016685	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs714207	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72648553	0.85[ASN][1000 genomes]
rs72648562	0.83[ASN][1000 genomes]
rs72648567	0.85[ASN][1000 genomes]
rs72648576	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72648589	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72648590	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72648594	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72648597	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648602	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650405	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650416	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72650417	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72650422	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72650425	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7817790	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7825009	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7825055	0.86[ASN][1000 genomes]
rs7830976	0.85[ASN][1000 genomes]
rs7845982	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv870164	chr8:61484657-61529482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61438000-61488600	Weak transcription	Fetal Brain Female	brain
2	chr8:61439400-61494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:61448600-61505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:61458200-61497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:61459400-61495800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:61466400-61516800	Weak transcription	Stomach Mucosa	stomach
7	chr8:61467200-61515400	Weak transcription	Fetal Brain Male	brain
8	chr8:61468800-61488600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:61469000-61495000	Weak transcription	Brain Germinal Matrix	brain
10	chr8:61469400-61488600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:61472000-61488800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:61473200-61489200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:61473600-61493800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:61473600-61495000	Weak transcription	Spleen	Spleen
15	chr8:61473600-61497800	Weak transcription	Lung	lung
16	chr8:61474200-61485600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:61474200-61504000	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:61474400-61486600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:61474600-61496200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:61474600-61496400	Weak transcription	Thymus	Thymus
21	chr8:61474800-61485600	Weak transcription	Small Intestine	intestine
22	chr8:61474800-61496000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:61474800-61504000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:61475000-61493600	Weak transcription	Fetal Kidney	kidney
25	chr8:61475000-61495600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:61475400-61494600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:61475400-61498200	Weak transcription	A549	lung
28	chr8:61476200-61488600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:61476200-61488600	Weak transcription	Fetal Heart	heart
30	chr8:61476200-61495400	Weak transcription	Hela-S3	cervix
31	chr8:61476200-61504800	Weak transcription	NHLF	lung
32	chr8:61476200-61517000	Weak transcription	Brain Angular Gyrus	brain
33	chr8:61476400-61495400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:61476400-61496400	Weak transcription	Brain Substantia Nigra	brain
35	chr8:61476600-61487800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:61476600-61488400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:61476600-61488600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:61476600-61495400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:61476800-61485600	Weak transcription	Adipose Nuclei	Adipose
40	chr8:61476800-61485800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:61476800-61488400	Weak transcription	K562	blood
42	chr8:61476800-61488800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:61476800-61495200	Weak transcription	Brain Anterior Caudate	brain
44	chr8:61477000-61485800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:61477000-61495000	Weak transcription	Ovary	ovary
46	chr8:61477200-61491200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:61477200-61494600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:61477400-61497600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr8:61477600-61485800	Weak transcription	NH-A	brain
50	chr8:61477800-61485600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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