Variant report

Variant	rs10483648
Chromosome Location	chr14:56104278-56104279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56101889..56105853-chr14:56107857..56111727,3	K562	blood:

Variant related genes	Relation type
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10083303	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10083353	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10083431	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10083493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs10083499	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133729	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10133962	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135426	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135600	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136155	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137364	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137885	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10139905	0.84[EUR][1000 genomes]
rs10142497	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142757	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143002	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145687	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146604	0.88[EUR][1000 genomes]
rs10147380	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147431	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148122	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148983	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149408	0.88[EUR][1000 genomes]
rs10150498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483643	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483646	0.87[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10483650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11546	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs12100949	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12323476	0.84[EUR][1000 genomes]
rs12886406	1.00[AFR][1000 genomes]
rs12892022	1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs12892413	1.00[AFR][1000 genomes]
rs12893081	1.00[AFR][1000 genomes]
rs12893836	1.00[AFR][1000 genomes]
rs12894368	1.00[CHB][hapmap]
rs13379151	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379340	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379342	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379343	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379353	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17253716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17253723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17253730	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17253744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17253792	0.87[AMR][1000 genomes]
rs17683614	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17683626	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs17683656	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17683728	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17685078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17685102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17744929	1.00[AFR][1000 genomes]
rs17745274	1.00[AFR][1000 genomes]
rs17745459	1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs17746033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17746106	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17747083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17747301	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17832365	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17832371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17832389	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2147114	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274075	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296181	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28375514	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28380739	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28392709	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28409547	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28478195	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513551	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28537145	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28539882	0.84[EUR][1000 genomes]
rs28549152	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28581185	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28587929	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28616134	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28661008	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28663681	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28681420	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28754619	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28831725	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34136598	1.00[AFR][1000 genomes]
rs34446601	1.00[AFR][1000 genomes]
rs35230683	1.00[AFR][1000 genomes]
rs35536987	1.00[AFR][1000 genomes]
rs3736876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45458197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45501402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58569951	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58589065	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71412688	1.00[AFR][1000 genomes]
rs71412689	1.00[AFR][1000 genomes]
rs71412690	1.00[AFR][1000 genomes]
rs71412693	1.00[AFR][1000 genomes]
rs71413577	1.00[AFR][1000 genomes]
rs71413578	1.00[AFR][1000 genomes]
rs7145064	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74051609	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74053651	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8006705	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8007065	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009239	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009608	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010475	0.87[AMR][1000 genomes]
rs8013714	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8013831	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8017891	0.86[EUR][1000 genomes]
rs8018142	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9323289	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9944028	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972178	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972180	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[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	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10483648	KTN1-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs10483648	KTN1	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
2	chr14:56079800-56111400	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr14:56080800-56110800	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr14:56087400-56111800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:56087400-56112200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:56087400-56132200	Strong transcription	Dnd41	blood
7	chr14:56087600-56107400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:56087600-56110000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:56087600-56145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:56088200-56108600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:56088200-56129400	Weak transcription	Spleen	Spleen
12	chr14:56088200-56132200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:56088400-56121600	Weak transcription	Aorta	Aorta
14	chr14:56088400-56121800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:56088400-56153200	Weak transcription	Gastric	stomach
16	chr14:56090800-56107000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:56091200-56104800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:56092800-56135400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:56093200-56110000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr14:56093400-56105000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:56093400-56107600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:56093800-56104400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:56093800-56110000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr14:56094200-56110000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:56094200-56110200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:56094400-56105000	Strong transcription	Adipose Nuclei	Adipose
27	chr14:56094400-56108000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:56094400-56109800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:56094400-56113000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:56094400-56132600	Strong transcription	HSMM	muscle
31	chr14:56094600-56110000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:56094600-56110200	Strong transcription	Liver	Liver
33	chr14:56095000-56142200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:56096200-56112000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:56096600-56109400	Strong transcription	GM12878-XiMat	blood
36	chr14:56097000-56105000	Strong transcription	HepG2	liver
37	chr14:56097600-56115600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:56097600-56145200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:56098600-56121600	Weak transcription	Small Intestine	intestine
41	chr14:56098800-56107600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:56099000-56128000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:56099400-56104800	Strong transcription	HUVEC	blood vessel
44	chr14:56099400-56118600	Strong transcription	Hela-S3	cervix
45	chr14:56099600-56104800	Strong transcription	Fetal Lung	lung
46	chr14:56099800-56104800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr14:56099800-56104800	Strong transcription	Left Ventricle	heart
48	chr14:56099800-56105200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr14:56099800-56110000	Strong transcription	Fetal Thymus	thymus
50	chr14:56100000-56104800	Strong transcription	Stomach Smooth Muscle	stomach

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