Variant report

Variant	rs17526278
Chromosome Location	chr19:51357887-51357888
allele	A/G
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:2)
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	chr19:51357857-51357907	HepG2	liver:	n/a
2	chr19:51357857-51357907	HCT-116	colon:	n/a
3	chr19:51357857-51357907	H1-hESC	embryonic stem cell:	embryo
4	chr19:51357857-51357907	CMK	blood:	n/a
5	chr19:51357857-51357907	NT2-D1	testis:	n/a
6	chr19:51357857-51357907	HUVEC	blood vessel:	n/a
7	chr19:51357857-51357907	GM06990	blood:	n/a
8	chr19:51357857-51357907	HCF	heart:	n/a
9	chr19:51357857-51357907	HL-60	blood:	n/a
10	chr19:51357857-51357907	RPTEC	kidney:	n/a
11	chr19:51357857-51357907	NHBE	bronchial:	n/a
12	chr19:51357857-51357907	GM12878	blood:	n/a
13	chr19:51357857-51357907	NH-A	brain:	n/a
14	chr19:51357857-51357907	AG10803	skin:	n/a
15	chr19:51357857-51357907	K562	blood:	n/a
16	chr19:51357857-51357907	HCPEpiC	choroid plexus:	n/a
17	chr19:51357857-51357907	SKMC	muscle:	n/a
18	chr19:51357857-51357907	PANC-1	pancreas:	n/a
19	chr19:51357857-51357907	HRCEpiC	kidney:	n/a
20	chr19:51357857-51357907	Caco-2	colon:	n/a
21	chr19:51357857-51357907	AG04450	lung:	fetal
22	chr19:51357857-51357907	SK-N-SH_RA	brain:	n/a
23	chr19:51357857-51357907	HRPEpiC	eye:	n/a
24	chr19:51357857-51357907	ovcar-3	ovarian:	n/a
25	chr19:51357857-51357907	IMR90	lung:	fetal
26	chr19:51357857-51357907	HNPCEpiC	eye:	n/a
27	chr19:51357857-51357907	A549	lung:	n/a
28	chr19:51357857-51357907	Hepatocyte	liver:	n/a
29	chr19:51357857-51357907	GM12892	blood:	n/a
30	chr19:51357857-51357907	GM12891	blood:	n/a
31	chr19:51357857-51357907	PFSK-1	brain:	n/a
32	chr19:51357857-51357907	HCM	heart:	n/a
33	chr19:51357857-51357907	T-47D	breast:	n/a
34	chr19:51357857-51357907	ProgFib	skin:	n/a
35	chr19:51357857-51357907	AoSMC	blood vessel:	n/a
36	chr19:51357857-51357907	AG04449	skin:	fetal
37	chr19:51357857-51357907	PrEC	prostate:	n/a
38	chr19:51357857-51357907	BE2_C	brain:	n/a
39	chr19:51357857-51357907	HEK293	kidney:	embryo
40	chr19:51357857-51357907	HMEC	breast:	n/a
41	chr19:51357857-51357907	HPAEpiC	pulmonary alveolar:	n/a
42	chr19:51357857-51357907	NB4	blood:	n/a
43	chr19:51357857-51357907	U87	brain:	n/a
44	chr19:51357857-51357907	Hela-S3	cervix:	n/a
45	chr19:51357857-51357907	SK-N-MC	brain:	n/a
46	chr19:51357857-51357907	AG09319	gingival:	n/a
47	chr19:51357857-51357907	SAEC	small airway:	n/a
48	chr19:51357857-51357907	SK-N-SH	brain:	n/a
49	chr19:51357857-51357907	HAEpiC	amniotic membrane:	n/a
50	chr19:51357857-51357907	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51357203..51359934-chr19:51411354..51413552,2	K562	blood:
2	chr19:51296075..51301998-chr19:51356744..51362542,6	K562	blood:

No data

Variant related genes	Relation type
KLK3	CpG island
ENSG00000167749	Chromatin interaction
ENSG00000268375	Chromatin interaction

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

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

rs_ID	r²[population]
rs12946	0.89[ASN][1000 genomes]
rs2003783	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34750956	0.87[ASN][1000 genomes]
rs35192866	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3760722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45588133	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55661885	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58946822	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66592214	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72626246	1.00[ASN][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	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv2531	chr19:51333628-51378597	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr19:51357800-51358000	ZNF genes & repeats	Pancreas	Pancrea
2	chr19:51357800-51358600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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