Variant report

Variant	rs62483570
Chromosome Location	chr7:100300649-100300650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100300649-100300699	HRCEpiC	kidney:	n/a
2	chr7:100300649-100300699	MCF-7	breast:	n/a
3	chr7:100300649-100300699	HRE	kidney:	n/a
4	chr7:100300649-100300699	A549	lung:	n/a
5	chr7:100300649-100300699	HEEpiC	esophagus:	n/a
6	chr7:100300649-100300699	MCF10A-Er-Src	breast:	n/a
7	chr7:100300649-100300699	BJ	skin:	n/a
8	chr7:100300649-100300699	Jurkat	blood:	n/a
9	chr7:100300649-100300699	GM06990	blood:	n/a
10	chr7:100300649-100300699	GM12891	blood:	n/a
11	chr7:100300649-100300699	Hela-S3	cervix:	n/a
12	chr7:100300649-100300699	BE2_C	brain:	n/a
13	chr7:100300649-100300699	HRPEpiC	eye:	n/a
14	chr7:100300649-100300699	HUVEC	blood vessel:	n/a
15	chr7:100300649-100300699	SK-N-SH	brain:	n/a
16	chr7:100300649-100300699	CMK	blood:	n/a
17	chr7:100300649-100300699	NH-A	brain:	n/a
18	chr7:100300649-100300699	HCT-116	colon:	n/a
19	chr7:100300649-100300699	SK-N-SH_RA	brain:	n/a
20	chr7:100300649-100300699	NHDF-neo	bronchial:	n/a
21	chr7:100300649-100300699	HCM	heart:	n/a
22	chr7:100300649-100300699	HL-60	blood:	n/a
23	chr7:100300649-100300699	GM12892	blood:	n/a
24	chr7:100300649-100300699	HMEC	breast:	n/a
25	chr7:100300649-100300699	NT2-D1	testis:	n/a
26	chr7:100300649-100300699	AG10803	skin:	n/a
27	chr7:100300649-100300699	HIPEpiC	eye:	n/a
28	chr7:100300649-100300699	ECC-1	luminal epithelium:	n/a
29	chr7:100300649-100300699	HEK293	kidney:	embryo
30	chr7:100300649-100300699	IMR90	lung:	fetal
31	chr7:100300649-100300699	HNPCEpiC	eye:	n/a
32	chr7:100300649-100300699	GM12878	blood:	n/a
33	chr7:100300649-100300699	LNCaP	prostate:	n/a
34	chr7:100300649-100300699	K562	blood:	n/a
35	chr7:100300649-100300699	U87	brain:	n/a
36	chr7:100300649-100300699	ovcar-3	ovarian:	n/a
37	chr7:100300649-100300699	NB4	blood:	n/a
38	chr7:100300649-100300699	NHBE	bronchial:	n/a
39	chr7:100300649-100300699	SKMC	muscle:	n/a
40	chr7:100300649-100300699	Caco-2	colon:	n/a
41	chr7:100300649-100300699	AG09319	gingival:	n/a
42	chr7:100300649-100300699	PANC-1	pancreas:	n/a
43	chr7:100300649-100300699	RPTEC	kidney:	n/a
44	chr7:100300649-100300699	AG04450	lung:	fetal
45	chr7:100300649-100300699	HepG2	liver:	n/a
46	chr7:100300649-100300699	PrEC	prostate:	n/a
47	chr7:100300649-100300699	H1-hESC	embryonic stem cell:	embryo
48	chr7:100300649-100300699	HCPEpiC	choroid plexus:	n/a
49	chr7:100300649-100300699	SAEC	small airway:	n/a
50	chr7:100300649-100300699	SK-N-MC	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100299982..100306646-chr7:100485585..100490991,8	MCF-7	breast:
2	chr7:100298368..100301478-chr7:100301532..100304006,4	K562	blood:
3	chr7:100299291..100301478-chr7:100467905..100469771,2	K562	blood:
4	chr7:100298456..100301434-chr7:100301532..100304511,4	K562	blood:
5	chr7:100282010..100283911-chr7:100299886..100301403,2	K562	blood:

No data

Variant related genes	Relation type
POP7	CpG island
ENSG00000087087	Chromatin interaction
ENSG00000087077	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000146830	Chromatin interaction
ENSG00000172336	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10953300	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10953301	0.82[ASN][1000 genomes]
rs11520986	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11760602	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11765509	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11769012	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11772705	1.00[ASN][1000 genomes]
rs11772849	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11973874	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11974395	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11979818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980509	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983334	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984421	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12531792	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2272572	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4727459	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4729602	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4729605	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4729606	0.94[EUR][1000 genomes]
rs4729607	0.92[EUR][1000 genomes]
rs62482249	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62482250	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62482251	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62482252	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62483567	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62483569	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
10	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
11	esv1804951	chr7:100275135-100374093	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	esv3365765	chr7:100297874-100300951	Weak transcription Bivalent Enhancer Enhancers	CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62483570	PERQ1	Cis_1M	lymphoblastoid	RTeQTL
rs62483570	MOSPD3	cis	Whole Blood	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100292400-100303000	Weak transcription	Right Atrium	heart
2	chr7:100292600-100302800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:100292800-100303000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:100293400-100302800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:100293800-100301800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:100293800-100302800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:100295000-100302400	Weak transcription	GM12878-XiMat	blood
8	chr7:100297400-100302400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:100299000-100302800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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