Variant report

Variant	rs17714461
Chromosome Location	chr19:51425106-51425107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51207123..51207698-chr19:51424524..51425304,2	MCF-7	breast:
2	chr19:51295981..51299062-chr19:51425075..51427456,3	MCF-7	breast:
3	chr19:51305398..51307185-chr19:51424202..51426690,2	MCF-7	breast:
4	chr19:51170642..51172342-chr19:51424128..51427049,2	K562	blood:
5	chr19:51418343..51421900-chr19:51422458..51425721,3	K562	blood:
6	chr19:51424967..51426214-chr19:51520004..51520659,4	MCF-7	breast:
7	chr19:51411727..51414183-chr19:51423578..51426767,3	K562	blood:
8	chr19:51303003..51307595-chr19:51424034..51426831,5	K562	blood:
9	chr19:51294402..51296118-chr19:51423536..51425330,2	K562	blood:
10	chr19:51297246..51301277-chr19:51424078..51428279,6	K562	blood:
11	chr19:51420400..51421939-chr19:51423500..51425721,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268375	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000167749	Chromatin interaction
ENSG00000129451	Chromatin interaction
ENSG00000220988	Chromatin interaction
ENSG00000213023	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 31 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1610231	1.00[ASW][hapmap]
rs17714545	1.00[YRI][hapmap]
rs198967	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:31)

SNP	Gene	Cis/trans	Tissue	Source
rs17714461	FZD8	trans	brain	seeQTL
rs17714461	SLC30A2	trans	brain	seeQTL
rs17714461	SIGLEC6	cis	brain	seeQTL
rs17714461	PGPEP1	trans	brain	seeQTL
rs17714461	KLK14	cis	brain	seeQTL
rs17714461	TIGD3	trans	brain	seeQTL
rs17714461	KLK2	cis	brain	seeQTL
rs17714461	FPR3	cis	brain	seeQTL
rs17714461	CCDC67	trans	brain	seeQTL
rs17714461	HMBS	trans	brain	seeQTL
rs17714461	EYA3	trans	brain	seeQTL
rs17714461	C1orf172	trans	brain	seeQTL
rs17714461	PVRL1	trans	brain	seeQTL
rs17714461	LGALS2	trans	brain	seeQTL
rs17714461	NSUN3	trans	brain	seeQTL
rs17714461	A4GNT	trans	brain	seeQTL
rs17714461	KLK3	cis	brain	seeQTL
rs17714461	SLC10A3	trans	brain	seeQTL
rs17714461	TMTC3	trans	brain	seeQTL
rs17714461	UTP20	trans	brain	seeQTL
rs17714461	NUP62	cis	brain	seeQTL
rs17714461	OR6B3	trans	brain	seeQTL
rs17714461	KLK12	cis	brain	seeQTL
rs17714461	ZNF561	trans	brain	seeQTL
rs17714461	KCNC3	cis	brain	seeQTL
rs17714461	SIGLEC5	cis	brain	seeQTL
rs17714461	C18orf25	trans	brain	seeQTL
rs17714461	IZUMO2	cis	brain	seeQTL
rs17714461	CFTR	trans	brain	seeQTL
rs17714461	ZNF132	trans	brain	seeQTL
rs17714461	LTB4R2	trans	brain	seeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51424200-51427600	Weak transcription	Right Atrium	heart
2	chr19:51424800-51425200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr19:51424800-51425200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr19:51424800-51425200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr19:51424800-51425400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
6	chr19:51424800-51425400	Bivalent Enhancer	NHEK	skin
7	chr19:51424800-51425600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
8	chr19:51424800-51425600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:51424800-51425600	Bivalent Enhancer	Adipose Nuclei	Adipose
10	chr19:51424800-51425600	Enhancers	GM12878-XiMat	blood
11	chr19:51424800-51425800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:51424800-51425800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:51424800-51426000	Bivalent Enhancer	Fetal Stomach	stomach
14	chr19:51425000-51425200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:51425000-51425200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
16	chr19:51425000-51425200	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr19:51425000-51425200	Flanking Bivalent TSS/Enh	A549	lung
18	chr19:51425000-51425200	Bivalent Enhancer	Hela-S3	cervix
19	chr19:51425000-51425400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr19:51425000-51425400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
21	chr19:51425000-51425400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr19:51425000-51425400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:51425000-51425400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr19:51425000-51425400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:51425000-51425400	Bivalent Enhancer	Brain Hippocampus Middle	brain
26	chr19:51425000-51425400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
27	chr19:51425000-51425600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
28	chr19:51425000-51425600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:51425000-51425600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
30	chr19:51425000-51425600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
31	chr19:51425000-51425800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr19:51425000-51426000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr19:51425000-51426000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr19:51425000-51426000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr19:51425000-51426000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:51425000-51426000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr19:51425000-51426000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr19:51425000-51426000	Enhancers	HMEC	breast
39	chr19:51425000-51426200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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