Variant report

Variant	rs72992266
Chromosome Location	chr6:130996447-130996448
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	chr6:130994751..130996672-chr6:131006100..131008606,2	K562	blood:
2	chr6:130990956..130992945-chr6:130994542..130996616,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10485095	1.00[AFR][1000 genomes]
rs17059344	1.00[AFR][1000 genomes]
rs17059420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17059453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17059490	1.00[AFR][1000 genomes]
rs17059520	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17059525	1.00[EUR][1000 genomes]
rs4144215	1.00[AFR][1000 genomes]
rs55925405	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56116438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56275069	1.00[AFR][1000 genomes]
rs56684748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56725541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56771583	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60789680	1.00[AFR][1000 genomes]
rs72499767	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72988292	1.00[AFR][1000 genomes]
rs72988295	1.00[AFR][1000 genomes]
rs72990208	1.00[AFR][1000 genomes]
rs72990221	1.00[AFR][1000 genomes]
rs72990296	1.00[AFR][1000 genomes]
rs72990301	1.00[AFR][1000 genomes]
rs72992209	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72992224	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72992225	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72992244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72992272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72992280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72992285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72992289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72992294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72994307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72994310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72994322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72994328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72996247	1.00[AFR][1000 genomes]
rs72996254	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72996263	1.00[EUR][1000 genomes]
rs72996267	1.00[AFR][1000 genomes]
rs72996271	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72996290	1.00[EUR][1000 genomes]
rs72996293	1.00[EUR][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	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv427767	chr6:130875056-131008620	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv830806	chr6:130938330-131107137	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:130993000-130997200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:130993000-130997400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:130993200-130997400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:130993400-130997400	Weak transcription	NHDF-Ad	bronchial
5	chr6:130993400-130997400	Weak transcription	NHLF	lung
6	chr6:130993800-131005400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:130994400-130996800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:130996000-130996800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:130996200-130996600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:130996200-130996600	Enhancers	HMEC	breast
11	chr6:130996200-130996600	Enhancers	HUVEC	blood vessel
12	chr6:130996200-130996600	Enhancers	NHEK	skin
13	chr6:130996200-130997200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr6:130996200-130997600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:130996400-130996600	Enhancers	Fetal Muscle Leg	muscle
16	chr6:130996400-130996600	Enhancers	Ovary	ovary
17	chr6:130996400-130996800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:130996400-130997000	Enhancers	NH-A	brain
19	chr6:130996400-130997200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:130996400-130997200	Enhancers	Colon Smooth Muscle	Colon
21	chr6:130996400-130997800	Enhancers	Osteobl	bone
22	chr6:130996400-130998000	Enhancers	HSMM	muscle
23	chr6:130996400-130998000	Enhancers	HSMMtube	muscle
24	chr6:130996400-131000600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links