Variant report

Variant	rs28722930
Chromosome Location	chr6:147134071-147134072
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11964579	1.00[AMR][1000 genomes]
rs11966293	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17076403	1.00[AMR][1000 genomes]
rs17833481	1.00[AMR][1000 genomes]
rs6899896	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6926607	1.00[AMR][1000 genomes]
rs7738837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7745833	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7746479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7749205	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7759494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7759615	1.00[AMR][1000 genomes]
rs7763638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7771966	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv966634	chr6:147128760-147141217	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2518343	chr6:147129690-147138004	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3526991	chr6:147130896-147137152	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3526992	chr6:147130896-147137152	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3475079	chr6:147130951-147138090	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3475080	chr6:147130951-147138090	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3329784	chr6:147131018-147137998	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3326141	chr6:147131185-147138244	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3388911	chr6:147133427-147137859	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3445930	chr6:147134038-147138289	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147129600-147136800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:147130800-147137400	Weak transcription	Placenta	Placenta
3	chr6:147133200-147136200	Enhancers	NH-A	brain
4	chr6:147133400-147136000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:147133600-147134200	Enhancers	K562	blood
6	chr6:147133600-147136200	Enhancers	Osteobl	bone
7	chr6:147133800-147134200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:147133800-147134200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:147133800-147134200	Enhancers	Ovary	ovary
10	chr6:147133800-147134400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:147133800-147134400	Active TSS	Hela-S3	cervix
12	chr6:147133800-147135600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:147133800-147136000	Enhancers	HSMM	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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