Variant report

Variant	rs2739434
Chromosome Location	chr19:51517239-51517240
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	chr19:51517212-51517262	HUVEC	blood vessel:	n/a
2	chr19:51517212-51517262	SK-N-SH	brain:	n/a
3	chr19:51517212-51517262	H1-hESC	embryonic stem cell:	embryo
4	chr19:51517212-51517262	MCF-7	breast:	n/a
5	chr19:51517212-51517262	U87	brain:	n/a
6	chr19:51517212-51517262	PFSK-1	brain:	n/a
7	chr19:51517212-51517262	HCF	heart:	n/a
8	chr19:51517212-51517262	HRPEpiC	eye:	n/a
9	chr19:51517212-51517262	AG04449	skin:	fetal
10	chr19:51517212-51517262	PrEC	prostate:	n/a
11	chr19:51517212-51517262	HPAEpiC	pulmonary alveolar:	n/a
12	chr19:51517212-51517262	HCPEpiC	choroid plexus:	n/a
13	chr19:51517212-51517262	HepG2	liver:	n/a
14	chr19:51517212-51517262	T-47D	breast:	n/a
15	chr19:51517212-51517262	AG09319	gingival:	n/a
16	chr19:51517212-51517262	HMEC	breast:	n/a
17	chr19:51517212-51517262	LNCaP	prostate:	n/a
18	chr19:51517212-51517262	CMK	blood:	n/a
19	chr19:51517212-51517262	SK-N-MC	brain:	n/a
20	chr19:51517212-51517262	AG04450	lung:	fetal
21	chr19:51517212-51517262	GM06990	blood:	n/a
22	chr19:51517212-51517262	HEEpiC	esophagus:	n/a
23	chr19:51517212-51517262	HNPCEpiC	eye:	n/a
24	chr19:51517212-51517262	K562	blood:	n/a
25	chr19:51517212-51517262	HCM	heart:	n/a
26	chr19:51517212-51517262	NB4	blood:	n/a
27	chr19:51517212-51517262	NHBE	bronchial:	n/a
28	chr19:51517212-51517262	SK-N-SH_RA	brain:	n/a
29	chr19:51517212-51517262	AoSMC	blood vessel:	n/a
30	chr19:51517212-51517262	HIPEpiC	eye:	n/a
31	chr19:51517212-51517262	SAEC	small airway:	n/a
32	chr19:51517212-51517262	SKMC	muscle:	n/a
33	chr19:51517212-51517262	A549	lung:	n/a
34	chr19:51517212-51517262	GM19239	blood:	n/a
35	chr19:51517212-51517262	Hela-S3	cervix:	n/a
36	chr19:51517212-51517262	AG10803	skin:	n/a
37	chr19:51517212-51517262	NHDF-neo	bronchial:	n/a
38	chr19:51517212-51517262	BE2_C	brain:	n/a
39	chr19:51517212-51517262	HCT-116	colon:	n/a
40	chr19:51517212-51517262	GM12892	blood:	n/a
41	chr19:51517212-51517262	AG09309	skin:	n/a
42	chr19:51517212-51517262	BJ	skin:	n/a
43	chr19:51517212-51517262	Hepatocyte	liver:	n/a
44	chr19:51517212-51517262	PANC-1	pancreas:	n/a
45	chr19:51517212-51517262	GM12878	blood:	n/a
46	chr19:51517212-51517262	ovcar-3	ovarian:	n/a
47	chr19:51517212-51517262	GM12891	blood:	n/a
48	chr19:51517212-51517262	IMR90	lung:	fetal
49	chr19:51517212-51517262	RPTEC	kidney:	n/a
50	chr19:51517212-51517262	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51512058..51513939-chr19:51514740..51518594,3	K562	blood:
2	chr19:51511667..51513229-chr19:51517144..51519553,2	MCF-7	breast:

No data

Variant related genes	Relation type
KLK9	CpG island
ENSG00000269741	CpG island
ENSG00000268739	CpG island
ENSG00000213022	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2075687	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2075688	0.81[EUR][1000 genomes]
rs2075689	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2075690	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2075691	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2075693	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2075695	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2569448	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2569449	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2569451	0.87[ASN][1000 genomes]
rs2691256	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2691258	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2739427	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2739428	0.82[AMR][1000 genomes]
rs2739430	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2739431	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2739432	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2739433	0.84[EUR][1000 genomes]
rs6509511	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6509512	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7250580	0.86[ASN][1000 genomes]
rs9524	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912291	chr19:51505725-51537682	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2739434	KLK10	cis	Skin Sun Exposed Lower leg	GTEx
rs2739434	CTC-518B2.12	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51514400-51519000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:51514800-51517400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:51514800-51517600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:51514800-51520200	Weak transcription	Right Atrium	heart
5	chr19:51516000-51517400	Weak transcription	Ovary	ovary
6	chr19:51517000-51518600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr19:51517200-51517800	Strong transcription	Esophagus	oesophagus
8	chr19:51517200-51517800	Enhancers	NHEK	skin
9	chr19:51517200-51518200	Genic enhancers	HMEC	breast

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