Variant report

Variant	rs34851039
Chromosome Location	chr1:86895184-86895185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86890911..86893215-chr1:86893778..86895291,2	K562	blood:
2	chr1:86892715..86895192-chr1:86898265..86899891,2	K562	blood:
3	chr1:86891052..86893486-chr1:86893692..86895662,2	MCF-7	breast:
4	chr1:86890838..86893158-chr1:86893303..86895296,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12724057	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12733468	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12741127	0.81[AFR][1000 genomes]
rs12749637	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12757699	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12758659	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1334139	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17129145	1.00[AMR][1000 genomes]
rs17129150	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17129169	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17129194	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34204564	0.82[AFR][1000 genomes]
rs34495136	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34513089	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34536842	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34834083	0.83[AMR][1000 genomes]
rs35261823	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs35303211	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35408727	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35604082	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35908397	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35950578	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36036063	0.83[AFR][1000 genomes]
rs4592241	0.81[AFR][1000 genomes]
rs55917045	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71662157	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs71662158	0.82[AMR][1000 genomes]
rs71662160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71662161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs932692	0.82[AFR][1000 genomes];1.00[AMR][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	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86889800-86895200	Weak transcription	Psoas Muscle	Psoas
2	chr1:86890200-86895200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:86890600-86903000	Weak transcription	Esophagus	oesophagus
4	chr1:86893000-86895200	Genic enhancers	NHEK	skin
5	chr1:86894200-86897400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:86894400-86895800	Enhancers	Hela-S3	cervix
7	chr1:86894400-86895800	Genic enhancers	HMEC	breast
8	chr1:86894400-86896200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:86894400-86896400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:86894400-86896600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:86894400-86896600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr1:86894400-86896600	Enhancers	Dnd41	blood
13	chr1:86894400-86897000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:86894400-86900200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:86894600-86895200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:86894600-86895400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:86894600-86896600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:86894600-86896600	Enhancers	Osteobl	bone
19	chr1:86894800-86895200	Enhancers	Aorta	Aorta
20	chr1:86894800-86895600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:86894800-86895800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:86894800-86895800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr1:86894800-86896000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:86894800-86896000	Enhancers	Fetal Thymus	thymus
25	chr1:86894800-86896200	Enhancers	Primary T cells from cord blood	blood
26	chr1:86894800-86896200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:86894800-86896200	Enhancers	Adipose Nuclei	Adipose
28	chr1:86894800-86896400	Enhancers	Primary hematopoietic stem cells	blood
29	chr1:86894800-86896400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr1:86894800-86896400	Enhancers	NHLF	lung
31	chr1:86894800-86896600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:86894800-86897200	Enhancers	NHDF-Ad	bronchial
33	chr1:86895000-86895200	Enhancers	Ovary	ovary
34	chr1:86895000-86895400	Enhancers	K562	blood
35	chr1:86895000-86895800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:86895000-86895800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:86895000-86895800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr1:86895000-86895800	Enhancers	Thymus	Thymus
39	chr1:86895000-86896000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr1:86895000-86896000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:86895000-86896000	Enhancers	Fetal Lung	lung
42	chr1:86895000-86896000	Weak transcription	Placenta	Placenta
43	chr1:86895000-86896000	Weak transcription	Small Intestine	intestine
44	chr1:86895000-86896200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:86895000-86896200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:86895000-86896200	Enhancers	HSMM	muscle
47	chr1:86895000-86896400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr1:86895000-86896400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr1:86895000-86896600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:86895000-86896600	Enhancers	HUVEC	blood vessel

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