Variant report

Variant	rs62482242
Chromosome Location	chr7:100236266-100236267
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100236215-100237152	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100207856..100214217-chr7:100235772..100240956,9	K562	blood:
2	chr7:100235870..100241765-chr7:100269603..100274523,10	K562	blood:
3	chr7:100207856..100215304-chr7:100235701..100242038,10	K562	blood:
4	chr7:100235439..100238054-chr7:100270243..100272428,2	MCF-7	breast:
5	chr7:100234354..100241214-chr7:100269812..100274154,10	K562	blood:
6	chr7:100235578..100238290-chr7:100275939..100277984,2	K562	blood:

No data

Variant related genes	Relation type
TFR2	TF binding region
ENSG00000106330	Chromatin interaction
ENSG00000172354	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10487157	0.86[AMR][1000 genomes]
rs10953299	0.95[EUR][1000 genomes]
rs11764045	0.86[AMR][1000 genomes]
rs11766643	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11767547	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11770389	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11770534	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11772667	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11983745	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12532878	0.84[AMR][1000 genomes]
rs2075674	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2231170	0.82[ASN][1000 genomes]
rs2231172	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28584500	0.83[AMR][1000 genomes]
rs41303510	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4729601	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62482238	0.86[AMR][1000 genomes]
rs62482239	0.82[AMR][1000 genomes]
rs6952341	0.83[EUR][1000 genomes]
rs6958696	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6969584	0.84[AMR][1000 genomes]
rs6969697	0.84[AMR][1000 genomes]
rs73156234	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170760	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73407376	0.86[AMR][1000 genomes]
rs7812123	0.84[AMR][1000 genomes]
rs7812235	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
3	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
4	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62482242	MOSPD3	cis	Whole Blood	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100227200-100237000	Weak transcription	HepG2	liver
2	chr7:100231200-100238400	Weak transcription	Pancreas	Pancrea
3	chr7:100231400-100240200	Weak transcription	Spleen	Spleen
4	chr7:100231400-100242400	Weak transcription	Right Atrium	heart
5	chr7:100231400-100247200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:100231600-100237800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:100231600-100238000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:100231800-100238200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:100232000-100237600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:100232200-100237600	Weak transcription	Hela-S3	cervix
11	chr7:100234600-100236400	Weak transcription	K562	blood
12	chr7:100234800-100236400	Weak transcription	Liver	Liver

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