Variant report

Variant	rs1815166
Chromosome Location	chr7:64299813-64299814
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr7:64295999-64300505	K562	blood:	n/a	n/a
2	HEY1	chr7:64299336-64300444	K562	blood:	n/a	n/a
3	POLR2A	chr7:64298468-64300423	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:64299791-64299841	AG04450	lung:	fetal
2	chr7:64299791-64299841	CMK	blood:	n/a
3	chr7:64299791-64299841	AoSMC	blood vessel:	n/a
4	chr7:64299791-64299841	SKMC	muscle:	n/a
5	chr7:64299791-64299841	LNCaP	prostate:	n/a
6	chr7:64299791-64299841	NT2-D1	testis:	n/a
7	chr7:64299791-64299841	HEEpiC	esophagus:	n/a
8	chr7:64299791-64299841	MCF-7	breast:	n/a
9	chr7:64299791-64299841	HRPEpiC	eye:	n/a
10	chr7:64299791-64299841	ProgFib	skin:	n/a
11	chr7:64299791-64299841	SAEC	small airway:	n/a
12	chr7:64299791-64299841	IMR90	lung:	fetal
13	chr7:64299791-64299841	GM12891	blood:	n/a
14	chr7:64299791-64299841	HRCEpiC	kidney:	n/a
15	chr7:64299791-64299841	Caco-2	colon:	n/a
16	chr7:64299791-64299841	PrEC	prostate:	n/a
17	chr7:64299791-64299841	Hepatocyte	liver:	n/a
18	chr7:64299791-64299841	PANC-1	pancreas:	n/a
19	chr7:64299791-64299841	NH-A	brain:	n/a
20	chr7:64299791-64299841	NB4	blood:	n/a
21	chr7:64299791-64299841	Jurkat	blood:	n/a
22	chr7:64299791-64299841	H1-hESC	embryonic stem cell:	embryo
23	chr7:64299791-64299841	HCPEpiC	choroid plexus:	n/a
24	chr7:64299791-64299841	SK-N-MC	brain:	n/a
25	chr7:64299791-64299841	HRE	kidney:	n/a
26	chr7:64299791-64299841	Hela-S3	cervix:	n/a
27	chr7:64299791-64299841	AG10803	skin:	n/a
28	chr7:64299791-64299841	HAEpiC	amniotic membrane:	n/a
29	chr7:64299791-64299841	PFSK-1	brain:	n/a
30	chr7:64299791-64299841	HL-60	blood:	n/a
31	chr7:64299791-64299841	HIPEpiC	eye:	n/a
32	chr7:64299791-64299841	HEK293	kidney:	embryo
33	chr7:64299791-64299841	HNPCEpiC	eye:	n/a
34	chr7:64299791-64299841	BJ	skin:	n/a
35	chr7:64299791-64299841	HPAEpiC	pulmonary alveolar:	n/a
36	chr7:64299791-64299841	SK-N-SH_RA	brain:	n/a
37	chr7:64299791-64299841	AG04449	skin:	fetal
38	chr7:64299791-64299841	HCT-116	colon:	n/a
39	chr7:64299791-64299841	ECC-1	luminal epithelium:	n/a
40	chr7:64299791-64299841	RPTEC	kidney:	n/a
41	chr7:64299791-64299841	K562	blood:	n/a
42	chr7:64299791-64299841	HCM	heart:	n/a
43	chr7:64299791-64299841	AG09319	gingival:	n/a
44	chr7:64299791-64299841	GM06990	blood:	n/a
45	chr7:64299791-64299841	ovcar-3	ovarian:	n/a
46	chr7:64299791-64299841	HUVEC	blood vessel:	n/a
47	chr7:64299791-64299841	HCF	heart:	n/a
48	chr7:64299791-64299841	NHBE	bronchial:	n/a
49	chr7:64299791-64299841	A549	lung:	n/a
50	chr7:64299791-64299841	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64297147..64300786-chr7:153106859..153112225,9	K562	blood:
2	chr7:64297147..64300763-chr7:153106859..153112373,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234338	TF binding region
ENSG00000234338	CpG island
ENSG00000234722	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 27 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10155953	0.81[ASN][1000 genomes]
rs10225171	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10231007	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10244479	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10251806	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10267321	0.87[AMR][1000 genomes]
rs10267350	0.87[AMR][1000 genomes]
rs10279535	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10949946	0.84[EUR][1000 genomes]
rs10949947	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10949948	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11760727	0.82[EUR][1000 genomes]
rs11974982	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12154509	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13226426	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13228575	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13230564	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1464927	0.80[EUR][1000 genomes]
rs1464928	0.80[EUR][1000 genomes]
rs1815167	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1880656	0.80[EUR][1000 genomes]
rs2015939	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2418465	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28878851	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4273745	0.86[AMR][1000 genomes]
rs4386865	0.88[AMR][1000 genomes]
rs4518551	0.80[EUR][1000 genomes]
rs4613868	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4717217	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718125	0.80[EUR][1000 genomes]
rs4718131	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4718142	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56004721	0.80[EUR][1000 genomes]
rs56075681	0.80[EUR][1000 genomes]
rs57570718	0.81[EUR][1000 genomes]
rs60113999	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73130313	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73130314	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7783765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7785735	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7787287	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7789149	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7790203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7792444	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7793057	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7802289	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7809177	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7810067	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
7	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv888279	chr7:64094285-64331123	Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv1033291	chr7:64273434-64406276	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv508457	chr7:64286522-64391112	Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv15396	chr7:64295355-64301341	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1797468	chr7:64296309-64356050	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv607313	chr7:64298329-64300612	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv607314	chr7:64298527-64300612	ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:27)

SNP	Gene	Cis/trans	Tissue	Source
rs1815166	RP11-797H7.3	cis	Adipose Subcutaneous	GTEx
rs1815166	SEPHS1P1	cis	Adipose Subcutaneous	GTEx
rs1815166	RP11-460N20.5	cis	Thyroid	GTEx
rs1815166	RP11-797H7.3	cis	Skin Sun Exposed Lower leg	GTEx
rs1815166	RP11-797H7.3	cis	Stomach	GTEx
rs1815166	RP11-797H7.3	cis	lung	GTEx
rs1815166	SEPHS1P1	cis	Skin Sun Exposed Lower leg	GTEx
rs1815166	RP11-797H7.3	cis	Artery Tibial	GTEx
rs1815166	RP11-797H7.5	cis	Nerve Tibial	GTEx
rs1815166	RP11-797H7.3	cis	Whole Blood	GTEx
rs1815166	RP11-460N20.5	cis	Adipose Subcutaneous	GTEx
rs1815166	SEPHS1P1	cis	Thyroid	GTEx
rs1815166	RP11-797H7.3	cis	Thyroid	GTEx
rs1815166	RP11-797H7.3	cis	Heart Left Ventricle	GTEx
rs1815166	SEPHS1P1	cis	Esophagus Mucosa	GTEx
rs1815166	RP11-797H7.3	cis	Muscle Skeletal	GTEx
rs1815166	RP11-797H7.5	cis	lung	GTEx
rs1815166	RP11-460N20.5	cis	Whole Blood	GTEx
rs1815166	RP11-797H7.3	cis	Esophagus Muscularis	GTEx
rs1815166	RP11-797H7.3	cis	Esophagus Mucosa	GTEx
rs1815166	RP11-797H7.3	cis	Artery Aorta	GTEx
rs1815166	SEPHS1P1	cis	Esophagus Muscularis	GTEx
rs1815166	SEPHS1P1	cis	Muscle Skeletal	GTEx
rs1815166	SEPHS1P1	cis	Nerve Tibial	GTEx
rs1815166	RP11-797H7.3	cis	Nerve Tibial	GTEx
rs1815166	SEPHS1P1	cis	Artery Tibial	GTEx
rs1815166	INTS4L1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64273400-64301400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:64293000-64301000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:64299600-64300200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:64299800-64300000	ZNF genes & repeats	Pancreas	Pancrea
5	chr7:64299800-64300200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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