Variant report

Variant	rs60534266
Chromosome Location	chr6:28442333-28442334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28439833..28442457-chr6:28444087..28445885,2	K562	blood:
2	chr6:28422985..28425247-chr6:28440349..28442926,2	K562	blood:
3	chr6:28436210..28439439-chr6:28440893..28443830,3	K562	blood:
4	chr6:28441214..28445163-chr6:28446286..28449658,4	K562	blood:
5	chr6:28302344..28303875-chr6:28441340..28443590,2	K562	blood:
6	chr6:28440403..28442381-chr6:28583746..28585382,2	K562	blood:
7	chr6:28440523..28445742-chr6:28446027..28449241,8	K562	blood:

Variant related genes	Relation type
ENSG00000232040	Chromatin interaction
ENSG00000219262	Chromatin interaction
ENSG00000235109	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

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]
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]
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]
rs73740948	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28436800-28442400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:28438600-28442400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:28442000-28443400	Active TSS	K562	blood
4	chr6:28442200-28442400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:28442200-28442400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:28442200-28442400	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
7	chr6:28442200-28442400	Enhancers	HUVEC	blood vessel
8	chr6:28442200-28442600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:28442200-28442600	Bivalent Enhancer	Fetal Heart	heart
10	chr6:28442200-28442800	Bivalent/Poised TSS	HepG2	liver
11	chr6:28442200-28443000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:28442200-28443000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:28442200-28443000	Active TSS	Hela-S3	cervix
14	chr6:28442200-28443200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:28442200-28443200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:28442200-28443200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:28442200-28443200	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr6:28442200-28443200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:28442200-28443200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:28442200-28443200	Active TSS	GM12878-XiMat	blood
21	chr6:28442200-28443200	Active TSS	NHEK	skin
22	chr6:28442200-28443400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr6:28442200-28443400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr6:28442200-28443400	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr6:28442200-28443400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:28442200-28443400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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