Variant report

Variant	rs17151872
Chromosome Location	chr11:57148960-57148961
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	CTCF	chr11:57148940-57149090	NHEK	skin:	n/a	n/a
2	CTCF	chr11:57148880-57149030	HBMEC	blood vessel:	n/a	n/a
3	CTCF	chr11:57148840-57148990	HEK293	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57148918-57148968	ProgFib	skin:	n/a
2	chr11:57148918-57148968	LNCaP	prostate:	n/a
3	chr11:57148918-57148968	Caco-2	colon:	n/a
4	chr11:57148918-57148968	AG10803	skin:	n/a
5	chr11:57148918-57148968	HepG2	liver:	n/a
6	chr11:57148918-57148968	K562	blood:	n/a
7	chr11:57148918-57148968	Hela-S3	cervix:	n/a
8	chr11:57148918-57148968	ECC-1	luminal epithelium:	n/a
9	chr11:57148918-57148968	AoSMC	blood vessel:	n/a
10	chr11:57148918-57148968	T-47D	breast:	n/a
11	chr11:57148918-57148968	HIPEpiC	eye:	n/a
12	chr11:57148918-57148968	HEK293	kidney:	embryo
13	chr11:57148918-57148968	SK-N-SH_RA	brain:	n/a
14	chr11:57148918-57148968	AG04450	lung:	fetal
15	chr11:57148918-57148968	SK-N-MC	brain:	n/a
16	chr11:57148918-57148968	AG09319	gingival:	n/a
17	chr11:57148918-57148968	GM12892	blood:	n/a
18	chr11:57148918-57148968	H1-hESC	embryonic stem cell:	embryo
19	chr11:57148918-57148968	NT2-D1	testis:	n/a
20	chr11:57148918-57148968	SAEC	small airway:	n/a
21	chr11:57148918-57148968	HRE	kidney:	n/a
22	chr11:57148918-57148968	HRPEpiC	eye:	n/a
23	chr11:57148918-57148968	NH-A	brain:	n/a
24	chr11:57148918-57148968	A549	lung:	n/a
25	chr11:57148918-57148968	HRCEpiC	kidney:	n/a
26	chr11:57148918-57148968	Jurkat	blood:	n/a
27	chr11:57148918-57148968	GM12878	blood:	n/a
28	chr11:57148918-57148968	HAEpiC	amniotic membrane:	n/a
29	chr11:57148918-57148968	MCF10A-Er-Src	breast:	n/a
30	chr11:57148918-57148968	HPAEpiC	pulmonary alveolar:	n/a
31	chr11:57148918-57148968	BE2_C	brain:	n/a
32	chr11:57148918-57148968	HCM	heart:	n/a
33	chr11:57148918-57148968	BJ	skin:	n/a
34	chr11:57148918-57148968	U87	brain:	n/a
35	chr11:57148918-57148968	HCT-116	colon:	n/a
36	chr11:57148918-57148968	ovcar-3	ovarian:	n/a
37	chr11:57148918-57148968	HMEC	breast:	n/a
38	chr11:57148918-57148968	HCF	heart:	n/a
39	chr11:57148918-57148968	HL-60	blood:	n/a
40	chr11:57148918-57148968	GM12891	blood:	n/a
41	chr11:57148918-57148968	HUVEC	blood vessel:	n/a
42	chr11:57148918-57148968	IMR90	lung:	fetal
43	chr11:57148918-57148968	HNPCEpiC	eye:	n/a
44	chr11:57148918-57148968	PrEC	prostate:	n/a
45	chr11:57148918-57148968	HCPEpiC	choroid plexus:	n/a
46	chr11:57148918-57148968	AG09309	skin:	n/a
47	chr11:57148918-57148968	GM06990	blood:	n/a
48	chr11:57148918-57148968	PANC-1	pancreas:	n/a
49	chr11:57148918-57148968	CMK	blood:	n/a
50	chr11:57148918-57148968	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57135491..57138301-chr11:57148780..57151441,2	K562	blood:
2	chr11:57101355..57105024-chr11:57147650..57149782,3	K562	blood:

No data

Variant related genes	Relation type
PRG3	TF binding region
PRG3	CpG island
ENSG00000149136	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17151863	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17151883	0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3885017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3885018	0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3887124	0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3887125	0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55820514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58065412	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59832434	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7122513	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57144800-57154800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:57148800-57149600	Weak transcription	K562	blood

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