Variant report

Variant	rs73740948
Chromosome Location	chr6:28447005-28447006
allele	A/T
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: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs55824022	1.00[AMR][1000 genomes]
rs55824759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56149387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56202543	1.00[AMR][1000 genomes]
rs56210889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57264899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57322407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57378414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57405872	1.00[AMR][1000 genomes]
rs57944534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58096372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58676312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58973509	1.00[AMR][1000 genomes]
rs59373145	1.00[AMR][1000 genomes]
rs60534266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60572869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60706469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60971314	1.00[AMR][1000 genomes]
rs61191532	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61511418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61624419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740946	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740949	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740953	1.00[AMR][1000 genomes]
rs73740954	1.00[AMR][1000 genomes]
rs73742519	1.00[AMR][1000 genomes]
rs73742523	1.00[AMR][1000 genomes]
rs73742540	1.00[AMR][1000 genomes]
rs73742556	1.00[AMR][1000 genomes]
rs73742557	1.00[AMR][1000 genomes]
rs73743509	1.00[AMR][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:23 , 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	chr6:28446600-28447200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr6:28446600-28447200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:28446600-28447200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:28446600-28447200	Bivalent/Poised TSS	GM12878-XiMat	blood
9	chr6:28446600-28447400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:28446800-28447200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:28446800-28447200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:28446800-28447200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:28446800-28447200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:28446800-28447200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:28446800-28447200	Bivalent Enhancer	Fetal Lung	lung
16	chr6:28447000-28447200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:28447000-28447200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:28447000-28447200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr6:28447000-28447200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
20	chr6:28447000-28447200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:28447000-28447200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:28447000-28447200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:28447000-28447600	Bivalent Enhancer	HepG2	liver

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