Variant report

Variant	rs6466638
Chromosome Location	chr7:79044846-79044847
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:78977361..78978896-chr7:79043903..79046403,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10085854	0.80[ASN][1000 genomes]
rs10214949	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10224707	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10225318	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10238084	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10239869	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10247922	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248439	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10248625	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10256084	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10258290	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10260696	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261439	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10262779	0.91[EUR][1000 genomes]
rs10263112	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269542	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275975	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276665	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10485936	1.00[JPT][hapmap]
rs1100310	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1155234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11972217	1.00[JPT][hapmap]
rs11980152	1.00[JPT][hapmap]
rs11980253	1.00[JPT][hapmap]
rs12670442	1.00[JPT][hapmap]
rs12670971	1.00[JPT][hapmap]
rs13239510	0.91[EUR][1000 genomes]
rs1358471	1.00[JPT][hapmap]
rs1406153	1.00[JPT][hapmap]
rs1406154	1.00[JPT][hapmap]
rs1528262	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1534492	1.00[JPT][hapmap]
rs1534493	1.00[JPT][hapmap]
rs1609273	1.00[JPT][hapmap]
rs1609276	1.00[JPT][hapmap]
rs16886476	1.00[JPT][hapmap]
rs16886549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147873	1.00[JPT][hapmap]
rs17152076	1.00[JPT][hapmap]
rs17152125	1.00[JPT][hapmap]
rs17152224	1.00[JPT][hapmap]
rs17152238	1.00[JPT][hapmap]
rs17152245	1.00[JPT][hapmap]
rs17421940	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17478565	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17481134	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17488042	1.00[JPT][hapmap]
rs17818755	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1918930	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918932	1.00[JPT][hapmap]
rs1997277	0.80[ASN][1000 genomes]
rs2190181	0.91[EUR][1000 genomes]
rs2190182	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2214808	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs2364908	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364920	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs28450541	0.80[ASN][1000 genomes]
rs28611031	0.80[ASN][1000 genomes]
rs28681068	0.91[EUR][1000 genomes]
rs28700941	0.80[ASN][1000 genomes]
rs2886214	0.88[EUR][1000 genomes]
rs4236606	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4236607	0.91[EUR][1000 genomes]
rs4291207	0.89[EUR][1000 genomes]
rs4559162	0.88[EUR][1000 genomes]
rs4621743	0.89[EUR][1000 genomes]
rs4727839	1.00[JPT][hapmap]
rs4727840	1.00[JPT][hapmap]
rs4730758	1.00[JPT][hapmap]
rs4730814	0.88[EUR][1000 genomes]
rs4730815	0.88[EUR][1000 genomes]
rs4730816	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4730818	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4730820	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs56829360	0.80[ASN][1000 genomes]
rs61075638	0.80[ASN][1000 genomes]
rs62458985	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458986	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458987	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458988	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458989	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458990	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466602	0.80[ASN][1000 genomes]
rs6466622	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466639	1.00[CEU][hapmap]
rs6466640	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6953480	0.88[EUR][1000 genomes]
rs6953613	0.88[EUR][1000 genomes]
rs6963068	1.00[JPT][hapmap]
rs6970833	0.88[EUR][1000 genomes]
rs6971965	0.88[EUR][1000 genomes]
rs6977556	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375167	0.80[ASN][1000 genomes]
rs7787904	1.00[JPT][hapmap]
rs7787956	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791179	0.88[EUR][1000 genomes]
rs7791667	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7800314	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7803949	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7806922	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7810770	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7811441	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848913	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs848916	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848932	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848934	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848944	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848948	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848953	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991261	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv888514	chr7:78987060-79061837	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv888515	chr7:78987060-79221707	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv607664	chr7:78998409-79057761	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv607665	chr7:79027730-79063644	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv607666	chr7:79029872-79063644	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv607667	chr7:79029872-79065268	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv607668	chr7:79029872-79070452	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv427792	chr7:79039802-79253373	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79037200-79048800	Weak transcription	NHLF	lung
2	chr7:79040000-79048800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:79040000-79049200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:79043000-79049200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:79043000-79051200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:79043200-79045000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:79043400-79047600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:79043600-79045800	Weak transcription	Brain Substantia Nigra	brain
9	chr7:79043800-79045000	Enhancers	NHDF-Ad	bronchial
10	chr7:79044200-79045800	Enhancers	Brain Hippocampus Middle	brain
11	chr7:79044400-79045000	Enhancers	Brain Angular Gyrus	brain
12	chr7:79044600-79049600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:79044800-79045000	Enhancers	Brain Anterior Caudate	brain
14	chr7:79044800-79048600	Weak transcription	Adipose Nuclei	Adipose

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