Variant report

Variant	rs2289938
Chromosome Location	chr8:117861516-117861517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117860936..117862672-chr8:117885542..117887768,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164754	Chromatin interaction
ENSG00000264875	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1050838	0.86[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543767	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12550234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16888887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16889012	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16889050	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3816342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4876688	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs6989717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7823787	0.80[CEU][hapmap]
rs7839961	0.80[CEU][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117848400-117863800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:117852400-117877000	Weak transcription	Fetal Intestine Small	intestine
3	chr8:117853000-117881400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:117854800-117863800	Weak transcription	Gastric	stomach
5	chr8:117854800-117875000	Strong transcription	Dnd41	blood
6	chr8:117855200-117861600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:117855200-117870400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:117855400-117872800	Strong transcription	Stomach Smooth Muscle	stomach
9	chr8:117856000-117870600	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr8:117856000-117872800	Strong transcription	Fetal Intestine Large	intestine
11	chr8:117856000-117873000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:117856000-117874000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:117856200-117869400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:117856200-117872000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:117856200-117873800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr8:117856200-117877000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:117856400-117862000	Strong transcription	GM12878-XiMat	blood
18	chr8:117856400-117873000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:117856400-117873000	Strong transcription	Liver	Liver
20	chr8:117856400-117875200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:117856400-117878400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr8:117856400-117879000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr8:117856400-117882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:117856600-117867000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:117856600-117875400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:117856600-117875800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:117856800-117874200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:117856800-117875000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:117856800-117877600	Strong transcription	HSMM	muscle
30	chr8:117856800-117878800	Strong transcription	Fetal Thymus	thymus
31	chr8:117857000-117879200	Strong transcription	Hela-S3	cervix
32	chr8:117857200-117875800	Strong transcription	HUVEC	blood vessel
33	chr8:117857200-117878000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:117857400-117872800	Strong transcription	Fetal Muscle Leg	muscle
35	chr8:117857400-117875200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:117857400-117877600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr8:117857600-117871600	Strong transcription	NH-A	brain
38	chr8:117857600-117873400	Strong transcription	Placenta	Placenta
39	chr8:117857600-117875200	Strong transcription	A549	lung
40	chr8:117857600-117878400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr8:117857800-117875600	Strong transcription	HMEC	breast
42	chr8:117858000-117870800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:117858000-117875200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:117858000-117879000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr8:117858200-117878400	Strong transcription	Primary B cells from cord blood	blood
46	chr8:117858400-117870400	Strong transcription	Adipose Nuclei	Adipose
47	chr8:117858400-117871000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:117858400-117871000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:117858400-117875000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr8:117858400-117875800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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