Variant report

Variant	rs16904252
Chromosome Location	chr8:131359644-131359645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131351394..131353103-chr8:131358921..131360696,2	MCF-7	breast:
2	chr8:131359135..131361082-chr8:131369216..131371676,2	MCF-7	breast:
3	chr8:131340170..131343751-chr8:131358170..131360964,3	MCF-7	breast:
4	chr8:131356285..131362086-chr8:131362586..131365729,5	MCF-7	breast:
5	chr8:131344750..131346449-chr8:131358677..131360366,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1417008	0.92[GIH][hapmap];0.82[MEX][hapmap];0.91[AMR][1000 genomes]
rs1426102	0.88[GIH][hapmap];0.82[MEX][hapmap];0.95[AMR][1000 genomes]
rs1556972	0.91[AMR][1000 genomes]
rs16904209	0.82[AMR][1000 genomes]
rs16904210	0.82[AMR][1000 genomes]
rs16904215	0.88[GIH][hapmap];0.82[MEX][hapmap];0.82[AMR][1000 genomes]
rs16904227	0.91[AMR][1000 genomes]
rs16904229	0.91[AMR][1000 genomes]
rs16904230	0.90[GIH][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes]
rs16904232	0.92[GIH][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes]
rs16904235	1.00[YRI][hapmap];0.91[AMR][1000 genomes]
rs16904236	0.92[GIH][hapmap];0.91[AMR][1000 genomes]
rs16904237	0.92[GIH][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes]
rs16904247	1.00[YRI][hapmap];0.95[AMR][1000 genomes]
rs16904253	0.87[GIH][hapmap];0.82[MEX][hapmap]
rs16904257	1.00[YRI][hapmap]
rs16904263	0.90[GIH][hapmap]
rs17210536	0.83[GIH][hapmap];1.00[MEX][hapmap]
rs2303444	0.92[GIH][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
2	chr8:131340400-131363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:131346400-131368800	Weak transcription	Fetal Intestine Small	intestine
4	chr8:131347600-131368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:131353800-131367600	Weak transcription	Dnd41	blood
6	chr8:131354200-131360000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:131354400-131363400	Enhancers	Fetal Heart	heart
8	chr8:131354400-131368800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:131354400-131368800	Weak transcription	Colonic Mucosa	Colon
10	chr8:131354800-131359800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:131354800-131359800	Enhancers	Primary T cells from cord blood	blood
12	chr8:131354800-131361200	Weak transcription	Fetal Brain Female	brain
13	chr8:131354800-131363400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:131355000-131362400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:131355000-131365800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr8:131355200-131361600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:131355200-131362400	Weak transcription	HepG2	liver
18	chr8:131355400-131360200	Weak transcription	Aorta	Aorta
19	chr8:131355400-131365200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr8:131355400-131368400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:131355400-131369000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:131355600-131361800	Weak transcription	Pancreas	Pancrea
23	chr8:131355600-131364000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:131355600-131369400	Weak transcription	Hela-S3	cervix
25	chr8:131355800-131362400	Genic enhancers	NHLF	lung
26	chr8:131356000-131360200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:131356000-131361400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:131356200-131360000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:131356200-131361200	Weak transcription	Primary B cells from cord blood	blood
30	chr8:131356400-131360200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:131356400-131360200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:131356400-131360400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:131356400-131360600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr8:131356600-131360000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:131356800-131359800	Enhancers	Brain Cingulate Gyrus	brain
36	chr8:131356800-131360400	Enhancers	Placenta	Placenta
37	chr8:131356800-131363600	Enhancers	Adipose Nuclei	Adipose
38	chr8:131357000-131360000	Genic enhancers	Muscle Satellite Cultured Cells	--
39	chr8:131357000-131368400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr8:131357200-131360600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr8:131357200-131363000	Enhancers	Brain Substantia Nigra	brain
42	chr8:131357200-131365000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:131357400-131359800	Enhancers	Brain Anterior Caudate	brain
44	chr8:131357400-131360000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr8:131357400-131360200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr8:131357400-131360400	Enhancers	Brain Germinal Matrix	brain
47	chr8:131357400-131362000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:131357400-131364000	Enhancers	Left Ventricle	heart
49	chr8:131357400-131364200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr8:131357600-131360000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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