Variant report

Variant	rs9900979
Chromosome Location	chr17:46726565-46726566
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:0)
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	chr17:46726549-46726599	HepG2	liver:	n/a
2	chr17:46726549-46726599	Jurkat	blood:	n/a
3	chr17:46726549-46726599	MCF10A-Er-Src	breast:	n/a
4	chr17:46726549-46726599	A549	lung:	n/a
5	chr17:46726549-46726599	AG04450	lung:	fetal
6	chr17:46726549-46726599	GM12892	blood:	n/a
7	chr17:46726549-46726599	PANC-1	pancreas:	n/a
8	chr17:46726549-46726599	AG09309	skin:	n/a
9	chr17:46726549-46726599	Hepatocyte	liver:	n/a
10	chr17:46726549-46726599	HAEpiC	amniotic membrane:	n/a
11	chr17:46726549-46726599	H1-hESC	embryonic stem cell:	embryo
12	chr17:46726549-46726599	NB4	blood:	n/a
13	chr17:46726549-46726599	SK-N-SH_RA	brain:	n/a
14	chr17:46726549-46726599	SKMC	muscle:	n/a
15	chr17:46726549-46726599	PrEC	prostate:	n/a
16	chr17:46726549-46726599	ovcar-3	ovarian:	n/a
17	chr17:46726549-46726599	NHBE	bronchial:	n/a
18	chr17:46726549-46726599	GM19239	blood:	n/a
19	chr17:46726549-46726599	HCPEpiC	choroid plexus:	n/a
20	chr17:46726549-46726599	AoSMC	blood vessel:	n/a
21	chr17:46726549-46726599	CMK	blood:	n/a
22	chr17:46726549-46726599	HEK293	kidney:	embryo
23	chr17:46726549-46726599	Hela-S3	cervix:	n/a
24	chr17:46726549-46726599	HRCEpiC	kidney:	n/a
25	chr17:46726549-46726599	GM12878	blood:	n/a
26	chr17:46726549-46726599	HL-60	blood:	n/a
27	chr17:46726549-46726599	HIPEpiC	eye:	n/a
28	chr17:46726549-46726599	HMEC	breast:	n/a
29	chr17:46726549-46726599	SK-N-MC	brain:	n/a
30	chr17:46726549-46726599	BJ	skin:	n/a
31	chr17:46726549-46726599	HCM	heart:	n/a
32	chr17:46726549-46726599	GM12891	blood:	n/a
33	chr17:46726549-46726599	T-47D	breast:	n/a
34	chr17:46726549-46726599	HUVEC	blood vessel:	n/a
35	chr17:46726549-46726599	HNPCEpiC	eye:	n/a
36	chr17:46726549-46726599	NH-A	brain:	n/a
37	chr17:46726549-46726599	HEEpiC	esophagus:	n/a
38	chr17:46726549-46726599	Caco-2	colon:	n/a
39	chr17:46726549-46726599	NHDF-neo	bronchial:	n/a
40	chr17:46726549-46726599	HRPEpiC	eye:	n/a
41	chr17:46726549-46726599	BE2_C	brain:	n/a
42	chr17:46726549-46726599	AG04449	skin:	fetal
43	chr17:46726549-46726599	ECC-1	luminal epithelium:	n/a
44	chr17:46726549-46726599	HCT-116	colon:	n/a
45	chr17:46726549-46726599	HPAEpiC	pulmonary alveolar:	n/a
46	chr17:46726549-46726599	K562	blood:	n/a
47	chr17:46726549-46726599	AG09319	gingival:	n/a
48	chr17:46726549-46726599	SAEC	small airway:	n/a
49	chr17:46726549-46726599	IMR90	lung:	fetal
50	chr17:46726549-46726599	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
ENSG00000272763	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11649801	0.90[ASN][1000 genomes]
rs11870669	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12942096	0.89[ASN][1000 genomes]
rs28828688	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3744773	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7502013	0.83[EUR][1000 genomes]
rs8071349	0.85[EUR][1000 genomes]
rs972705	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9890514	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9905361	0.90[ASN][1000 genomes]
rs9911009	0.81[AMR][1000 genomes]
rs9912849	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
2	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
3	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
4	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
5	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
6	nsv908581	chr17:46610646-46735520	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
7	nsv833471	chr17:46617787-46783345	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	356 gene(s)	inside rSNPs	diseases
8	nsv908584	chr17:46618926-46735520	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46725400-46739000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr17:46725600-46732000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:46725600-46749000	Weak transcription	A549	lung
4	chr17:46726000-46729400	Weak transcription	GM12878-XiMat	blood

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