Variant report

Variant	rs62448552
Chromosome Location	chr7:47836868-47836869
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs59848490	0.83[AFR][1000 genomes]
rs6463449	0.83[AFR][1000 genomes]
rs73331721	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830990	chr7:47767540-47837584	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr7:47817200-47846600	Weak transcription	Left Ventricle	heart
2	chr7:47823400-47847200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:47823400-47849400	Weak transcription	Psoas Muscle	Psoas
4	chr7:47823400-47852200	Weak transcription	Right Ventricle	heart
5	chr7:47826600-47844000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:47827000-47851400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:47827600-47842000	Weak transcription	Fetal Intestine Small	intestine
8	chr7:47827600-47844400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:47827600-47845800	Weak transcription	Fetal Stomach	stomach
10	chr7:47828400-47839200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:47832200-47838800	Weak transcription	HepG2	liver
12	chr7:47834400-47837200	Weak transcription	Spleen	Spleen
13	chr7:47834400-47847000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:47835400-47845800	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:47836200-47837000	Enhancers	Osteobl	bone
16	chr7:47836200-47837400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:47836200-47839200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:47836200-47843400	Weak transcription	A549	lung
19	chr7:47836200-47844400	Weak transcription	NH-A	brain
20	chr7:47836200-47844600	Weak transcription	Ovary	ovary
21	chr7:47836400-47844400	Weak transcription	NHLF	lung
22	chr7:47836600-47837000	Flanking Active TSS	HSMMtube	muscle
23	chr7:47836800-47837000	Enhancers	HSMM	muscle

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