Variant report

Variant	rs72850299
Chromosome Location	chr6:28223725-28223726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28220144..28224072-chr6:28306303..28309254,3	K562	blood:
2	chr6:28219253..28222051-chr6:28222330..28224548,2	K562	blood:
3	chr6:28219546..28223731-chr6:28316147..28319107,5	K562	blood:
4	chr6:28219997..28223882-chr6:28224379..28228192,5	K562	blood:
5	chr6:28219245..28221589-chr6:28221663..28224285,2	K562	blood:

Variant related genes	Relation type
ENSG00000189134	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000187626	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11546572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2079705	1.00[AFR][1000 genomes]
rs41269285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41269289	1.00[AFR][1000 genomes]
rs41269291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41270579	1.00[AFR][1000 genomes]
rs41270589	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4540253	1.00[AFR][1000 genomes]
rs61744109	0.88[EUR][1000 genomes]
rs62620226	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72844204	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72844212	1.00[AFR][1000 genomes]
rs72844218	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72844220	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72846777	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72846788	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72846792	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72846797	0.88[EUR][1000 genomes]
rs72846802	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72848793	1.00[AFR][1000 genomes]
rs72849204	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72849206	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72849210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72849214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72849222	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72850297	1.00[AFR][1000 genomes]
rs72850298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72850300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72850302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72851105	0.86[EUR][1000 genomes]
rs72851135	0.80[EUR][1000 genomes]
rs72851138	0.88[EUR][1000 genomes]
rs72851139	0.88[EUR][1000 genomes]
rs72851156	0.88[EUR][1000 genomes]
rs72851158	0.88[EUR][1000 genomes]
rs72851160	0.88[EUR][1000 genomes]
rs72851161	0.88[EUR][1000 genomes]
rs72851168	0.88[EUR][1000 genomes]
rs72851173	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72851179	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72851182	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72854503	1.00[AFR][1000 genomes]
rs72854506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72854515	1.00[AFR][1000 genomes]
rs72854521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]
rs72854546	1.00[AFR][1000 genomes]
rs72854556	1.00[AFR][1000 genomes]
rs7752415	1.00[AFR][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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