Variant report

Variant	rs3760738
Chromosome Location	chr19:51523897-51523898
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:3)
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	chr19:51523889-51523939	HIPEpiC	eye:	n/a
2	chr19:51523889-51523939	A549	lung:	n/a
3	chr19:51523889-51523939	NH-A	brain:	n/a
4	chr19:51523889-51523939	BE2_C	brain:	n/a
5	chr19:51523889-51523939	Caco-2	colon:	n/a
6	chr19:51523889-51523939	H1-hESC	embryonic stem cell:	embryo
7	chr19:51523889-51523939	PANC-1	pancreas:	n/a
8	chr19:51523889-51523939	AG04450	lung:	fetal
9	chr19:51523889-51523939	PrEC	prostate:	n/a
10	chr19:51523889-51523939	HCF	heart:	n/a
11	chr19:51523889-51523939	HRPEpiC	eye:	n/a
12	chr19:51523889-51523939	HepG2	liver:	n/a
13	chr19:51523889-51523939	SK-N-MC	brain:	n/a
14	chr19:51523889-51523939	HNPCEpiC	eye:	n/a
15	chr19:51523889-51523939	GM06990	blood:	n/a
16	chr19:51523889-51523939	Hepatocyte	liver:	n/a
17	chr19:51523889-51523939	ovcar-3	ovarian:	n/a
18	chr19:51523889-51523939	MCF10A-Er-Src	breast:	n/a
19	chr19:51523889-51523939	SK-N-SH_RA	brain:	n/a
20	chr19:51523889-51523939	HEEpiC	esophagus:	n/a
21	chr19:51523889-51523939	LNCaP	prostate:	n/a
22	chr19:51523889-51523939	HUVEC	blood vessel:	n/a
23	chr19:51523889-51523939	Hela-S3	cervix:	n/a
24	chr19:51523889-51523939	GM12892	blood:	n/a
25	chr19:51523889-51523939	PFSK-1	brain:	n/a
26	chr19:51523889-51523939	HEK293	kidney:	embryo
27	chr19:51523889-51523939	GM12891	blood:	n/a
28	chr19:51523889-51523939	NHBE	bronchial:	n/a
29	chr19:51523889-51523939	SAEC	small airway:	n/a
30	chr19:51523889-51523939	IMR90	lung:	fetal
31	chr19:51523889-51523939	GM12878	blood:	n/a
32	chr19:51523889-51523939	SKMC	muscle:	n/a
33	chr19:51523889-51523939	HAEpiC	amniotic membrane:	n/a
34	chr19:51523889-51523939	NB4	blood:	n/a
35	chr19:51523889-51523939	AG09319	gingival:	n/a
36	chr19:51523889-51523939	ProgFib	skin:	n/a
37	chr19:51523889-51523939	AG04449	skin:	fetal
38	chr19:51523889-51523939	U87	brain:	n/a
39	chr19:51523889-51523939	HPAEpiC	pulmonary alveolar:	n/a
40	chr19:51523889-51523939	CMK	blood:	n/a
41	chr19:51523889-51523939	HCPEpiC	choroid plexus:	n/a
42	chr19:51523889-51523939	HCT-116	colon:	n/a
43	chr19:51523889-51523939	NHDF-neo	bronchial:	n/a
44	chr19:51523889-51523939	HMEC	breast:	n/a
45	chr19:51523889-51523939	K562	blood:	n/a
46	chr19:51523889-51523939	Jurkat	blood:	n/a
47	chr19:51523889-51523939	AoSMC	blood vessel:	n/a
48	chr19:51523889-51523939	AG10803	skin:	n/a
49	chr19:51523889-51523939	RPTEC	kidney:	n/a
50	chr19:51523889-51523939	SK-N-SH	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51523695..51525833-chr19:51599486..51602295,2	MCF-7	breast:
2	chr19:51306795..51309015-chr19:51522024..51524887,2	K562	blood:
3	chr19:51523891..51526100-chr19:51527596..51530914,4	MCF-7	breast:

No data

Variant related genes	Relation type
KLK10	CpG island
ENSG00000167757	Chromatin interaction
ENSG00000167747	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10420303	0.87[ASW][hapmap];1.00[YRI][hapmap]
rs2075688	0.87[ASN][1000 genomes]
rs2569454	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2569478	0.87[ASW][hapmap];1.00[YRI][hapmap]
rs2739433	1.00[YRI][hapmap]
rs3745535	0.88[ASW][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];0.84[TSI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6509512	0.82[MEX][hapmap]

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
rs3760738	KLK10	cis	Skin Sun Exposed Lower leg	GTEx
rs3760738	CTC-518B2.12	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51522000-51524400	Bivalent Enhancer	Fetal Stomach	stomach
2	chr19:51522400-51524000	Enhancers	Brain Substantia Nigra	brain
3	chr19:51522600-51525800	Weak transcription	Gastric	stomach
4	chr19:51523000-51524200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:51523000-51524400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr19:51523000-51524600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:51523000-51524800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:51523000-51524800	Enhancers	Brain Anterior Caudate	brain
9	chr19:51523200-51524000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:51523200-51524000	Enhancers	Spleen	Spleen
11	chr19:51523200-51524600	Enhancers	K562	blood
12	chr19:51523400-51524000	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr19:51523400-51524200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr19:51523400-51524600	Enhancers	NHEK	skin
15	chr19:51523400-51524800	Enhancers	Brain Hippocampus Middle	brain
16	chr19:51523400-51524800	Enhancers	HMEC	breast
17	chr19:51523400-51527400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr19:51523400-51549000	Weak transcription	Right Atrium	heart
19	chr19:51523600-51524600	Weak transcription	Pancreas	Pancrea
20	chr19:51523600-51525000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:51523800-51524000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr19:51523800-51524600	Weak transcription	Ovary	ovary
23	chr19:51523800-51526200	Weak transcription	Esophagus	oesophagus
24	chr19:51523800-51528600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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