Variant report

Variant	rs72844218
Chromosome Location	chr6:28446983-28446984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28364005..28367844-chr6:28444304..28449588,6	K562	blood:
2	chr6:28441214..28445163-chr6:28446286..28449658,4	K562	blood:
3	chr6:28445552..28448033-chr6:28451076..28452971,2	K562	blood:
4	chr6:28440523..28445742-chr6:28446027..28449241,8	K562	blood:
5	chr6:28446745..28449657-chr6:28455146..28458037,3	MCF-7	breast:
6	chr6:28446299..28448037-chr6:28455509..28457029,2	MCF-7	breast:
7	chr6:28429774..28433738-chr6:28446930..28450436,3	K562	blood:

Variant related genes	Relation type
ENSG00000158691	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11546572	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2079705	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2394101	0.91[EUR][1000 genomes]
rs2531821	0.81[EUR][1000 genomes]
rs34951544	1.00[AFR][1000 genomes]
rs41269287	1.00[AMR][1000 genomes]
rs41269289	1.00[AFR][1000 genomes]
rs41269291	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs41270579	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs41270589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41270596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4540253	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72844204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72844212	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72844220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844223	0.91[EUR][1000 genomes]
rs72844224	0.88[EUR][1000 genomes]
rs72844225	0.88[EUR][1000 genomes]
rs72844226	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72850297	1.00[AFR][1000 genomes]
rs72850298	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72850299	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72850300	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72850302	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72854503	1.00[AFR][1000 genomes]
rs72854506	0.87[EUR][1000 genomes]
rs72854515	1.00[AFR][1000 genomes]
rs72854521	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72854522	1.00[AFR][1000 genomes]
rs72854525	1.00[AFR][1000 genomes]
rs72854527	1.00[AFR][1000 genomes]
rs72854531	1.00[AFR][1000 genomes]
rs72854533	1.00[AFR][1000 genomes]
rs72854535	1.00[AFR][1000 genomes]
rs72854536	1.00[AFR][1000 genomes]
rs72854542	0.91[EUR][1000 genomes]
rs72854546	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72854553	0.91[EUR][1000 genomes]
rs72854556	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7752415	1.00[AFR][1000 genomes]
rs7770236	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462666	chr6:28417222-28574415	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv601210	chr6:28417222-28574415	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28443200-28456600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:28443400-28447800	Weak transcription	K562	blood
3	chr6:28446200-28447400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:28446400-28447200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:28446600-28447000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:28446600-28447000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:28446600-28447200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr6:28446600-28447200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:28446600-28447200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:28446600-28447200	Bivalent/Poised TSS	GM12878-XiMat	blood
11	chr6:28446600-28447400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:28446800-28447000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
13	chr6:28446800-28447000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:28446800-28447000	Flanking Bivalent TSS/Enh	HepG2	liver
15	chr6:28446800-28447000	Flanking Bivalent TSS/Enh	NHEK	skin
16	chr6:28446800-28447200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr6:28446800-28447200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:28446800-28447200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:28446800-28447200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:28446800-28447200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:28446800-28447200	Bivalent Enhancer	Fetal Lung	lung

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