Variant report

Variant	rs2569451
Chromosome Location	chr19:51520200-51520201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51425221..51425760-chr19:51519684..51520316,2	K562	blood:
2	chr19:51517770..51520731-chr19:51521022..51523368,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129451	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2075687	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2075689	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2075690	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2075691	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2075693	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2075695	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2569448	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2569449	0.90[ASN][1000 genomes]
rs2691256	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2691258	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2739430	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2739431	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2739432	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2739434	0.87[ASN][1000 genomes]
rs6509511	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6509512	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7250580	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9524	0.80[EUR][1000 genomes];0.90[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2569451	KLK10	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51514800-51520200	Weak transcription	Right Atrium	heart
2	chr19:51517400-51520200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:51519600-51520200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:51519800-51520200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr19:51519800-51520200	Weak transcription	Esophagus	oesophagus
6	chr19:51519800-51520400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:51519800-51521400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr19:51519800-51522000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr19:51519800-51522400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr19:51520000-51520200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:51520000-51520200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:51520000-51520200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:51520000-51520200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:51520000-51520200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr19:51520000-51520200	Flanking Active TSS	Ovary	ovary
16	chr19:51520000-51520200	Enhancers	Pancreas	Pancrea
17	chr19:51520000-51520400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:51520000-51520400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:51520000-51520600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
20	chr19:51520000-51520600	Bivalent/Poised TSS	A549	lung
21	chr19:51520000-51520800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr19:51520000-51520800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:51520000-51520800	Bivalent Enhancer	Placenta	Placenta
24	chr19:51520000-51520800	Flanking Active TSS	HMEC	breast
25	chr19:51520000-51521000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr19:51520000-51521000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:51520000-51521000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
28	chr19:51520000-51521000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
29	chr19:51520000-51521000	Bivalent Enhancer	Spleen	Spleen
30	chr19:51520000-51521200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr19:51520000-51521200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr19:51520000-51522000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:51520000-51522400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:51520000-51522400	Active TSS	NHEK	skin
35	chr19:51520000-51522800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr19:51520000-51523000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr19:51520000-51523000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr19:51520000-51523400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr19:51520200-51520400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:51520200-51520400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
41	chr19:51520200-51520400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
42	chr19:51520200-51520400	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:51520200-51520400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:51520200-51520400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:51520200-51520400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr19:51520200-51520400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
47	chr19:51520200-51520400	Active TSS	Esophagus	oesophagus
48	chr19:51520200-51520400	Bivalent/Poised TSS	Fetal Brain Female	brain
49	chr19:51520200-51520400	Enhancers	Gastric	stomach
50	chr19:51520200-51520400	Bivalent/Poised TSS	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links