Variant report

Variant	rs6473906
Chromosome Location	chr8:54984313-54984314
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	chr8:54930533..54932312-chr8:54982689..54985099,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10093311	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10093431	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10095163	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10095164	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10095679	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs10096376	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10099080	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10101289	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10102439	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10102726	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10102905	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10112203	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1044604	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1112697	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1112698	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11986605	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11988830	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988859	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11993180	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11994366	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11998000	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11998659	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12115094	0.87[EUR][1000 genomes]
rs16919750	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919924	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28369337	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28379732	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28397021	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28412019	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28413072	0.96[AMR][1000 genomes]
rs28507589	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28533970	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28565202	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28707072	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28736685	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28759114	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55704212	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55781183	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55864901	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56087054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56902942	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57093383	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58515879	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58595525	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59087284	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59114404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59270026	0.87[EUR][1000 genomes]
rs59277432	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59387379	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60186893	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60672236	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60805450	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6473899	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473901	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473902	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473903	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473905	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473908	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473910	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6981386	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6983650	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6983958	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6984119	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6989211	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6992073	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7001391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7003793	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004808	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7005653	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7007028	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7007031	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7007176	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7008593	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7011032	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7014036	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7016108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018089	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7018355	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73589273	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73589286	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73589295	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73590817	0.80[EUR][1000 genomes]
rs73679588	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73679589	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73679596	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73679602	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681304	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681307	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681309	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681805	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681806	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7815998	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7822750	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7823234	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7824355	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7824979	1.00[AMR][1000 genomes]
rs7833336	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7834757	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7836760	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7839276	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7844291	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7844299	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844390	1.00[CEU][hapmap]
rs7846650	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9771960	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9918912	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv1818072	chr8:54968014-54991447	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv967590	chr8:54980634-54991502	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54944000-54985800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
3	chr8:54949800-54999400	Weak transcription	NHLF	lung
4	chr8:54956000-54999000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:54956600-54991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:54957200-54991600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:54960000-54993000	Weak transcription	Brain Substantia Nigra	brain
9	chr8:54962200-54991000	Weak transcription	Esophagus	oesophagus
10	chr8:54963200-54999200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:54963200-54999200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:54963200-54999200	Weak transcription	Colonic Mucosa	Colon
13	chr8:54963200-54999200	Weak transcription	Small Intestine	intestine
14	chr8:54963400-54999200	Weak transcription	HSMMtube	muscle
15	chr8:54963800-54999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:54966200-54997600	Weak transcription	Pancreas	Pancrea
17	chr8:54966400-54991800	Weak transcription	NH-A	brain
18	chr8:54966400-55007600	Weak transcription	Psoas Muscle	Psoas
19	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
20	chr8:54966600-54991800	Weak transcription	Osteobl	bone
21	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:54967200-54991600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:54967200-54999200	Weak transcription	Ovary	ovary
24	chr8:54974400-54985600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:54974400-54999200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:54974600-54985200	Weak transcription	Lung	lung
27	chr8:54974600-54991000	Weak transcription	K562	blood
28	chr8:54974600-54991600	Weak transcription	Thymus	Thymus
29	chr8:54974600-54997400	Weak transcription	Spleen	Spleen
30	chr8:54974600-54999200	Weak transcription	Right Ventricle	heart
31	chr8:54974800-54985600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:54974800-54987400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:54974800-54989600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:54974800-54991000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:54974800-54991400	Weak transcription	Adipose Nuclei	Adipose
36	chr8:54974800-54991600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:54974800-54991600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:54974800-54999200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:54974800-55002200	Weak transcription	Gastric	stomach
40	chr8:54975400-54985200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:54975400-54991000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:54975600-54984400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:54975600-54984400	Weak transcription	Fetal Intestine Large	intestine
44	chr8:54975600-54984400	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:54975600-55012800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:54975800-54991000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:54975800-54999200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr8:54975800-54999600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:54976200-54985600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:54976200-54990800	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links