Variant report

Variant	rs72994861
Chromosome Location	chr6:132714842-132714843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1416100	1.00[ASN][1000 genomes]
rs1577995	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17061243	1.00[ASN][1000 genomes]
rs17190773	1.00[ASN][1000 genomes]
rs2153176	1.00[ASN][1000 genomes]
rs34871318	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36032364	1.00[ASN][1000 genomes]
rs3861470	1.00[ASN][1000 genomes]
rs55753187	1.00[ASN][1000 genomes]
rs55779505	1.00[ASN][1000 genomes]
rs56067804	1.00[ASN][1000 genomes]
rs56172786	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56336490	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66578544	1.00[ASN][1000 genomes]
rs6925224	1.00[ASN][1000 genomes]
rs72994859	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72994866	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72994868	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72994871	1.00[ASN][1000 genomes]
rs72994872	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72994875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7449646	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7739846	1.00[ASN][1000 genomes]
rs7755527	1.00[ASN][1000 genomes]
rs7755532	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773683	1.00[ASN][1000 genomes]
rs951466	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951467	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951468	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830811	chr6:132623160-132787539	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv886675	chr6:132683762-132730947	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv604668	chr6:132687248-132731358	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv604677	chr6:132708163-132718231	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv604690	chr6:132709300-132718231	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132713200-132719200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:132713400-132720000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:132713800-132715200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:132713800-132715200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:132714000-132715000	Enhancers	Fetal Lung	lung
6	chr6:132714000-132715200	Enhancers	NHDF-Ad	bronchial
7	chr6:132714000-132715400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:132714000-132721200	Weak transcription	NH-A	brain
9	chr6:132714200-132715400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:132714400-132715000	Weak transcription	Fetal Kidney	kidney
11	chr6:132714400-132720200	Weak transcription	Osteobl	bone
12	chr6:132714400-132720800	Weak transcription	HSMMtube	muscle
13	chr6:132714600-132715200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:132714600-132715200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:132714600-132715400	ZNF genes & repeats	Lung	lung
16	chr6:132714800-132715400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:132714800-132721000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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