Variant report

Variant	rs8112574
Chromosome Location	chr19:51425875-51425876
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51227568..51228201-chr19:51425197..51426174,3	K562	blood:
2	chr19:51425192..51426275-chr19:51597983..51598594,3	MCF-7	breast:
3	chr19:51295981..51299062-chr19:51425075..51427456,3	MCF-7	breast:
4	chr19:51286546..51287526-chr19:51425133..51426173,3	K562	blood:
5	chr19:51298091..51299895-chr19:51425770..51427626,2	MCF-7	breast:
6	chr19:51305398..51307185-chr19:51424202..51426690,2	MCF-7	breast:
7	chr19:51170642..51172342-chr19:51424128..51427049,2	K562	blood:
8	chr19:51424967..51426214-chr19:51520004..51520659,4	MCF-7	breast:
9	chr19:51411727..51414183-chr19:51423578..51426767,3	K562	blood:
10	chr19:51303003..51307595-chr19:51424034..51426831,5	K562	blood:
11	chr19:51297246..51301277-chr19:51424078..51428279,6	K562	blood:
12	chr19:51041119..51041656-chr19:51425210..51425984,2	K562	blood:
13	chr19:51298106..51301277-chr19:51425216..51427297,3	K562	blood:

No data

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10409714	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10411538	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs1654547	0.81[EUR][1000 genomes]
rs57716863	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59881416	0.93[EUR][1000 genomes]
rs61610129	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51424200-51427600	Weak transcription	Right Atrium	heart
2	chr19:51424800-51426000	Bivalent Enhancer	Fetal Stomach	stomach
3	chr19:51425000-51426000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
4	chr19:51425000-51426000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr19:51425000-51426000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr19:51425000-51426000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:51425000-51426000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr19:51425000-51426000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr19:51425000-51426000	Enhancers	HMEC	breast
10	chr19:51425000-51426200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:51425200-51426000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr19:51425200-51426000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:51425200-51426000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:51425400-51426000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
15	chr19:51425400-51426000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:51425400-51426000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
17	chr19:51425400-51426000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:51425400-51426000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:51425400-51426000	Enhancers	NHEK	skin
20	chr19:51425600-51426000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr19:51425600-51426000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr19:51425600-51426000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr19:51425600-51426000	Enhancers	Brain Cingulate Gyrus	brain
24	chr19:51425600-51426000	Enhancers	Colon Smooth Muscle	Colon

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