Variant report

Variant	rs73170760
Chromosome Location	chr7:100254991-100254992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
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	MXI1	chr7:100252893-100254996	SK-N-SH	brain:	n/a	chr7:100253746-100253755

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100254948-100254998	GM12891	blood:	n/a
2	chr7:100254948-100254998	MCF-7	breast:	n/a
3	chr7:100254948-100254998	SK-N-SH	brain:	n/a
4	chr7:100254948-100254998	NB4	blood:	n/a
5	chr7:100254948-100254998	GM19239	blood:	n/a
6	chr7:100254948-100254998	RPTEC	kidney:	n/a
7	chr7:100254948-100254998	GM06990	blood:	n/a
8	chr7:100254948-100254998	MCF10A-Er-Src	breast:	n/a
9	chr7:100254948-100254998	H1-hESC	embryonic stem cell:	embryo
10	chr7:100254948-100254998	GM12892	blood:	n/a
11	chr7:100254948-100254998	HL-60	blood:	n/a
12	chr7:100254948-100254998	ProgFib	skin:	n/a
13	chr7:100254948-100254998	HUVEC	blood vessel:	n/a
14	chr7:100254948-100254998	PrEC	prostate:	n/a
15	chr7:100254948-100254998	LNCaP	prostate:	n/a
16	chr7:100254948-100254998	GM12878	blood:	n/a
17	chr7:100254948-100254998	T-47D	breast:	n/a
18	chr7:100254948-100254998	SAEC	small airway:	n/a
19	chr7:100254948-100254998	CMK	blood:	n/a
20	chr7:100254948-100254998	NH-A	brain:	n/a
21	chr7:100254948-100254998	AG10803	skin:	n/a
22	chr7:100254948-100254998	Hela-S3	cervix:	n/a
23	chr7:100254948-100254998	IMR90	lung:	fetal
24	chr7:100254948-100254998	HNPCEpiC	eye:	n/a
25	chr7:100254948-100254998	HCPEpiC	choroid plexus:	n/a
26	chr7:100254948-100254998	SK-N-MC	brain:	n/a
27	chr7:100254948-100254998	Caco-2	colon:	n/a
28	chr7:100254948-100254998	SK-N-SH_RA	brain:	n/a
29	chr7:100254948-100254998	HAEpiC	amniotic membrane:	n/a
30	chr7:100254948-100254998	PANC-1	pancreas:	n/a
31	chr7:100254948-100254998	Jurkat	blood:	n/a
32	chr7:100254948-100254998	NHDF-neo	bronchial:	n/a
33	chr7:100254948-100254998	HRE	kidney:	n/a
34	chr7:100254948-100254998	PFSK-1	brain:	n/a
35	chr7:100254948-100254998	SKMC	muscle:	n/a
36	chr7:100254948-100254998	HCF	heart:	n/a
37	chr7:100254948-100254998	NT2-D1	testis:	n/a
38	chr7:100254948-100254998	HPAEpiC	pulmonary alveolar:	n/a
39	chr7:100254948-100254998	NHBE	bronchial:	n/a
40	chr7:100254948-100254998	HIPEpiC	eye:	n/a
41	chr7:100254948-100254998	HRCEpiC	kidney:	n/a
42	chr7:100254948-100254998	Hepatocyte	liver:	n/a
43	chr7:100254948-100254998	U87	brain:	n/a
44	chr7:100254948-100254998	HMEC	breast:	n/a
45	chr7:100254948-100254998	HepG2	liver:	n/a
46	chr7:100254948-100254998	ovcar-3	ovarian:	n/a
47	chr7:100254948-100254998	BJ	skin:	n/a
48	chr7:100254948-100254998	ECC-1	luminal epithelium:	n/a
49	chr7:100254948-100254998	HRPEpiC	eye:	n/a
50	chr7:100254948-100254998	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:100245838..100247558-chr7:100254172..100256418,2	K562	blood:
2	chr7:100182086..100185168-chr7:100253147..100256450,3	MCF-7	breast:
3	chr7:100253224..100257564-chr7:100270253..100273768,4	K562	blood:
4	chr7:100236529..100239648-chr7:100253974..100255733,3	K562	blood:
5	chr7:100025569..100027511-chr7:100253508..100255447,2	K562	blood:
6	chr7:100254369..100255974-chr7:100290427..100292129,2	K562	blood:

No data

Variant related genes	Relation type
ACTL6B	TF binding region
ACTL6B	CpG island
ENSG00000146834	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000172354	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10953299	0.88[EUR][1000 genomes]
rs11770534	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11772667	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2231170	0.93[ASN][1000 genomes]
rs2231172	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729601	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62482242	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6958696	0.87[EUR][1000 genomes]
rs73156234	0.85[EUR][1000 genomes];0.82[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73170760	MOSPD3	cis	Whole Blood	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100253600-100255000	Active TSS	Fetal Brain Female	brain
2	chr7:100253800-100255000	Enhancers	Fetal Brain Male	brain
3	chr7:100254000-100260600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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