Variant report

Variant	rs1225589
Chromosome Location	chr6:28225136-28225137
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:28225060-28225210	HFF-Myc	foreskin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:28219997..28223882-chr6:28224379..28228192,5	K562	blood:
2	chr6:28225119..28227553-chr6:28366156..28368716,2	K562	blood:
3	chr6:28218888..28222826-chr6:28224722..28227606,3	K562	blood:
4	chr6:28224904..28226983-chr6:28276563..28279040,2	K562	blood:

Variant related genes	Relation type
NKAPL	TF binding region
ENSG00000187626	Chromatin interaction
ENSG00000158691	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1144707	1.00[AMR][1000 genomes]
rs1150667	1.00[AMR][1000 genomes]
rs1150675	1.00[AMR][1000 genomes]
rs1150677	1.00[AMR][1000 genomes]
rs1150681	1.00[AMR][1000 genomes]
rs1150706	1.00[AMR][1000 genomes]
rs12208060	1.00[AMR][1000 genomes]
rs1225601	1.00[AMR][1000 genomes]
rs1233663	1.00[AMR][1000 genomes]
rs1233668	1.00[AMR][1000 genomes]
rs1778485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs213229	1.00[AMR][1000 genomes]
rs213234	1.00[AMR][1000 genomes]
rs213242	1.00[AMR][1000 genomes]
rs2394048	1.00[AMR][1000 genomes]
rs2531829	1.00[AMR][1000 genomes]
rs2799080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2859361	1.00[AMR][1000 genomes]
rs2859366	1.00[AMR][1000 genomes]
rs4713154	1.00[AMR][1000 genomes]
rs59183152	1.00[AMR][1000 genomes]
rs6902266	1.00[AMR][1000 genomes]
rs853675	1.00[AMR][1000 genomes]
rs853677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs853680	1.00[AMR][1000 genomes]
rs853686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs853691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs853692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28220600-28226600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:28220600-28226600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:28220600-28226600	Weak transcription	HSMM	muscle
4	chr6:28220600-28226600	Weak transcription	NHEK	skin
5	chr6:28220600-28226800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:28220600-28226800	Weak transcription	HSMMtube	muscle
7	chr6:28220600-28226800	Weak transcription	NH-A	brain
8	chr6:28220800-28226400	Weak transcription	Pancreas	Pancrea
9	chr6:28220800-28226400	Weak transcription	Psoas Muscle	Psoas
10	chr6:28220800-28226400	Weak transcription	Right Atrium	heart
11	chr6:28220800-28226600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:28220800-28226600	Weak transcription	HMEC	breast
13	chr6:28220800-28226600	Weak transcription	HUVEC	blood vessel
14	chr6:28220800-28226600	Weak transcription	Osteobl	bone
15	chr6:28220800-28226800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:28220800-28226800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:28220800-28226800	Weak transcription	Lung	lung
18	chr6:28220800-28227000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:28220800-28227000	Weak transcription	Gastric	stomach
20	chr6:28221200-28226400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:28221200-28226600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:28221600-28226600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:28221800-28226600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:28222400-28226400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:28222600-28226400	Weak transcription	Monocytes-CD14+_RO01746	blood

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