Variant report

Variant	rs854818
Chromosome Location	chr17:18022039-18022040
allele	A/C
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:1)
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	chr17:18022025-18022075	Caco-2	colon:	n/a
2	chr17:18022025-18022075	K562	blood:	n/a
3	chr17:18022025-18022075	IMR90	lung:	fetal
4	chr17:18022025-18022075	RPTEC	kidney:	n/a
5	chr17:18022025-18022075	BE2_C	brain:	n/a
6	chr17:18022025-18022075	AG09309	skin:	n/a
7	chr17:18022025-18022075	HAEpiC	amniotic membrane:	n/a
8	chr17:18022025-18022075	SK-N-SH	brain:	n/a
9	chr17:18022025-18022075	HCF	heart:	n/a
10	chr17:18022025-18022075	HUVEC	blood vessel:	n/a
11	chr17:18022025-18022075	AG09319	gingival:	n/a
12	chr17:18022025-18022075	HCM	heart:	n/a
13	chr17:18022025-18022075	HRPEpiC	eye:	n/a
14	chr17:18022025-18022075	HRCEpiC	kidney:	n/a
15	chr17:18022025-18022075	Hela-S3	cervix:	n/a
16	chr17:18022025-18022075	HEK293	kidney:	embryo
17	chr17:18022025-18022075	U87	brain:	n/a
18	chr17:18022025-18022075	H1-hESC	embryonic stem cell:	embryo
19	chr17:18022025-18022075	SAEC	small airway:	n/a
20	chr17:18022025-18022075	GM12878	blood:	n/a
21	chr17:18022025-18022075	HPAEpiC	pulmonary alveolar:	n/a
22	chr17:18022025-18022075	HL-60	blood:	n/a
23	chr17:18022025-18022075	Hepatocyte	liver:	n/a
24	chr17:18022025-18022075	HRE	kidney:	n/a
25	chr17:18022025-18022075	T-47D	breast:	n/a
26	chr17:18022025-18022075	NH-A	brain:	n/a
27	chr17:18022025-18022075	AG10803	skin:	n/a
28	chr17:18022025-18022075	HEEpiC	esophagus:	n/a
29	chr17:18022025-18022075	PANC-1	pancreas:	n/a
30	chr17:18022025-18022075	GM19239	blood:	n/a
31	chr17:18022025-18022075	GM12892	blood:	n/a
32	chr17:18022025-18022075	MCF10A-Er-Src	breast:	n/a
33	chr17:18022025-18022075	MCF-7	breast:	n/a
34	chr17:18022025-18022075	ECC-1	luminal epithelium:	n/a
35	chr17:18022025-18022075	NB4	blood:	n/a
36	chr17:18022025-18022075	AG04449	skin:	fetal
37	chr17:18022025-18022075	AoSMC	blood vessel:	n/a
38	chr17:18022025-18022075	HIPEpiC	eye:	n/a
39	chr17:18022025-18022075	GM06990	blood:	n/a
40	chr17:18022025-18022075	PrEC	prostate:	n/a
41	chr17:18022025-18022075	HNPCEpiC	eye:	n/a
42	chr17:18022025-18022075	SK-N-SH_RA	brain:	n/a
43	chr17:18022025-18022075	HepG2	liver:	n/a
44	chr17:18022025-18022075	NT2-D1	testis:	n/a
45	chr17:18022025-18022075	SKMC	muscle:	n/a
46	chr17:18022025-18022075	ProgFib	skin:	n/a
47	chr17:18022025-18022075	GM12891	blood:	n/a
48	chr17:18022025-18022075	HMEC	breast:	n/a
49	chr17:18022025-18022075	AG04450	lung:	fetal
50	chr17:18022025-18022075	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:18020446..18022435-chr17:18029700..18032433,2	MCF-7	breast:

No data

Variant related genes	Relation type
MYO15A	CpG island

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1008135	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1101727	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11078410	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11650021	0.80[EUR][1000 genomes]
rs11867241	0.86[EUR][1000 genomes]
rs2056842	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2955350	0.82[EUR][1000 genomes]
rs2955353	0.82[EUR][1000 genomes]
rs2955354	0.82[EUR][1000 genomes]
rs2955355	0.82[EUR][1000 genomes]
rs2955356	0.82[EUR][1000 genomes]
rs2955357	0.82[EUR][1000 genomes]
rs2955358	0.82[EUR][1000 genomes]
rs2955359	0.82[EUR][1000 genomes]
rs2955365	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955366	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955367	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2955368	0.83[EUR][1000 genomes]
rs2955370	0.82[EUR][1000 genomes]
rs2955372	0.83[EUR][1000 genomes]
rs2955380	0.82[EUR][1000 genomes]
rs2955381	0.81[EUR][1000 genomes]
rs2955383	0.80[EUR][1000 genomes]
rs2955384	0.81[EUR][1000 genomes]
rs2955385	0.81[EUR][1000 genomes]
rs2974998	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2974999	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4365346	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4410135	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4426402	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4506967	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4561528	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4643387	0.82[EUR][1000 genomes]
rs4925135	0.82[EUR][1000 genomes]
rs4925136	0.81[EUR][1000 genomes]
rs59518074	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62073573	0.93[EUR][1000 genomes]
rs6502633	0.81[EUR][1000 genomes]
rs6502634	0.80[EUR][1000 genomes]
rs6502636	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6502637	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6826	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs712267	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712268	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7207461	0.82[EUR][1000 genomes]
rs7210400	0.82[EUR][1000 genomes]
rs7211714	0.93[EUR][1000 genomes]
rs7212447	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs721669	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7406744	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs741782	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066764	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8080602	0.82[EUR][1000 genomes]
rs854763	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs854767	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854768	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854769	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854770	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854789	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs854790	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs854791	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs854792	0.83[EUR][1000 genomes]
rs854808	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs854809	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs854814	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs854817	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303144	0.91[EUR][1000 genomes]
rs9894138	0.82[EUR][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	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv960429	chr17:17951047-18027679	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv907769	chr17:18000321-18064195	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv457697	chr17:18003845-18046290	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv574527	chr17:18003845-18046290	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv907771	chr17:18013560-18098018	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs854818	SREBF1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18010600-18030400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:18011000-18022600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:18011200-18026200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:18014600-18022400	Weak transcription	Spleen	Spleen
5	chr17:18019200-18026800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr17:18021600-18024000	ZNF genes & repeats	Fetal Stomach	stomach
7	chr17:18021600-18025800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:18021600-18026800	Weak transcription	Psoas Muscle	Psoas
9	chr17:18021800-18022400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:18022000-18024000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:18022000-18024000	ZNF genes & repeats	Placenta	Placenta
12	chr17:18022000-18025000	Weak transcription	Fetal Muscle Trunk	muscle

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