Variant report

Variant	rs221788
Chromosome Location	chr7:100270005-100270006
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100235870..100241765-chr7:100269603..100274523,10	K562	blood:
2	chr7:100024810..100029555-chr7:100269638..100276218,15	K562	blood:
3	chr7:100181574..100184448-chr7:100269546..100273047,4	K562	blood:
4	chr7:100207807..100212872-chr7:100269575..100273736,11	MCF-7	breast:
5	chr7:100178369..100186125-chr7:100269651..100278553,26	MCF-7	breast:
6	chr7:100208530..100211610-chr7:100269581..100272676,5	K562	blood:
7	chr7:100269556..100272634-chr7:100485447..100488529,3	K562	blood:
8	chr7:100238702..100243589-chr7:100269441..100273725,6	MCF-7	breast:
9	chr7:100202004..100207768-chr7:100269368..100273670,5	MCF-7	breast:
10	chr7:100269767..100273038-chr7:100301958..100304641,4	K562	blood:
11	chr7:100267775..100270348-chr7:100270743..100272340,2	MCF-7	breast:
12	chr7:100222479..100225299-chr7:100269623..100272327,3	MCF-7	breast:
13	chr7:100222720..100225673-chr7:100269427..100271412,2	K562	blood:
14	chr7:100269920..100272546-chr7:100486381..100488020,2	MCF-7	breast:
15	chr7:100234354..100241214-chr7:100269812..100274154,10	K562	blood:
16	chr7:100032100..100034084-chr7:100269925..100271746,2	MCF-7	breast:
17	chr7:100228266..100233162-chr7:100269916..100273013,5	MCF-7	breast:
18	chr7:100243605..100246571-chr7:100269514..100273196,3	MCF-7	breast:
19	chr7:100208069..100211610-chr7:100269776..100275197,5	K562	blood:
20	chr7:100179326..100185857-chr7:100269460..100275597,19	MCF-7	breast:
21	chr7:100180263..100184567-chr7:100269497..100273047,5	K562	blood:
22	chr7:100222858..100232262-chr7:100269297..100275934,19	MCF-7	breast:
23	chr7:100208328..100213557-chr7:100269728..100273649,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160813	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000077080	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000106336	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10277087	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1617640	0.87[EUR][1000 genomes]
rs1734908	0.85[EUR][1000 genomes]
rs1734909	0.87[EUR][1000 genomes]
rs1734910	0.87[EUR][1000 genomes]
rs221771	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs221772	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs221790	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs221795	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs221801	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2432930	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs475339	0.87[EUR][1000 genomes]
rs504141	0.87[EUR][1000 genomes]
rs507392	0.87[EUR][1000 genomes]
rs551238	0.85[EUR][1000 genomes]
rs554055	0.86[EUR][1000 genomes]
rs568733	0.87[EUR][1000 genomes]
rs576236	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
3	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
4	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
5	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
6	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
7	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv607934	chr7:100240505-100271521	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv8184	chr7:100240737-100345945	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv888792	chr7:100252918-100329189	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv888793	chr7:100266081-100279163	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv888794	chr7:100266081-100283261	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
14	nsv888795	chr7:100266081-100298626	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs221788	MOSPD3	cis	Whole Blood	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100255800-100270600	Weak transcription	Right Atrium	heart
2	chr7:100268000-100270400	Weak transcription	K562	blood
3	chr7:100269800-100270600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:100269800-100270800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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