Variant report

Variant	rs7254626
Chromosome Location	chr19:51425404-51425405
allele	A/C
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 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	chr19:51425247..51425777-chr19:51597716..51598675,2	MCF-7	breast:
5	chr19:51385166..51386078-chr19:51425187..51425741,2	K562	blood:
6	chr19:51286546..51287526-chr19:51425133..51426173,3	K562	blood:
7	chr19:51305398..51307185-chr19:51424202..51426690,2	MCF-7	breast:
8	chr19:51170642..51172342-chr19:51424128..51427049,2	K562	blood:
9	chr19:51425221..51425760-chr19:51519684..51520316,2	K562	blood:
10	chr19:51418343..51421900-chr19:51422458..51425721,3	K562	blood:
11	chr19:51424967..51426214-chr19:51520004..51520659,4	MCF-7	breast:
12	chr19:51411727..51414183-chr19:51423578..51426767,3	K562	blood:
13	chr19:51303003..51307595-chr19:51424034..51426831,5	K562	blood:
14	chr19:51207536..51208116-chr19:51425176..51425817,3	K562	blood:
15	chr19:51207203..51207926-chr19:51425215..51425761,2	MCF-7	breast:
16	chr19:51297246..51301277-chr19:51424078..51428279,6	K562	blood:
17	chr19:51420400..51421939-chr19:51423500..51425721,2	K562	blood:
18	chr19:51041119..51041656-chr19:51425210..51425984,2	K562	blood:
19	chr19:51298106..51301277-chr19:51425216..51427297,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167747	Chromatin interaction
ENSG00000220988	Chromatin interaction
ENSG00000129451	Chromatin interaction
ENSG00000268375	Chromatin interaction
ENSG00000213023	Chromatin interaction
ENSG00000161681	Chromatin interaction
ENSG00000167749	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10401844	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10402459	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10402465	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10403448	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10403688	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11665937	0.93[ASN][1000 genomes]
rs1532902	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1532903	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1532904	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs268917	0.83[GIH][hapmap]
rs268921	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4802759	0.93[ASN][1000 genomes]
rs6509501	0.80[EUR][1000 genomes]
rs7255201	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8100471	0.94[ASN][1000 genomes]
rs8100631	0.83[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8101572	0.91[GIH][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs8104307	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8104329	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8104644	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs8111289	0.96[ASN][1000 genomes]
rs8111539	0.94[ASN][1000 genomes]
rs8113547	0.88[ASN][1000 genomes]
rs870361	0.84[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];0.88[MKK][hapmap];0.84[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51424200-51427600	Weak transcription	Right Atrium	heart
2	chr19:51424800-51425600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
3	chr19:51424800-51425600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:51424800-51425600	Bivalent Enhancer	Adipose Nuclei	Adipose
5	chr19:51424800-51425600	Enhancers	GM12878-XiMat	blood
6	chr19:51424800-51425800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:51424800-51425800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:51424800-51426000	Bivalent Enhancer	Fetal Stomach	stomach
9	chr19:51425000-51425600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
10	chr19:51425000-51425600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:51425000-51425600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
12	chr19:51425000-51425600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
13	chr19:51425000-51425800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr19:51425000-51426000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
15	chr19:51425000-51426000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr19:51425000-51426000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr19:51425000-51426000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:51425000-51426000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr19:51425000-51426000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr19:51425000-51426000	Enhancers	HMEC	breast
21	chr19:51425000-51426200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:51425200-51425600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr19:51425200-51425600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr19:51425200-51425600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
25	chr19:51425200-51425600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
26	chr19:51425200-51425600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:51425200-51425600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr19:51425200-51425600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
29	chr19:51425200-51425600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
30	chr19:51425200-51425600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
31	chr19:51425200-51425600	Bivalent Enhancer	Colon Smooth Muscle	Colon
32	chr19:51425200-51425600	Bivalent Enhancer	A549	lung
33	chr19:51425200-51425800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
34	chr19:51425200-51425800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:51425200-51425800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:51425200-51425800	Bivalent Enhancer	Fetal Thymus	thymus
37	chr19:51425200-51426000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
38	chr19:51425200-51426000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:51425200-51426000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:51425400-51425600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr19:51425400-51425600	Bivalent Enhancer	Primary T cells from cord blood	blood
42	chr19:51425400-51425600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr19:51425400-51425600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
44	chr19:51425400-51425600	Bivalent Enhancer	Fetal Intestine Large	intestine
45	chr19:51425400-51425600	Bivalent Enhancer	Fetal Kidney	kidney
46	chr19:51425400-51425600	Enhancers	Dnd41	blood
47	chr19:51425400-51425600	Bivalent Enhancer	Hela-S3	cervix
48	chr19:51425400-51425600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
49	chr19:51425400-51425800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr19:51425400-51426000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links