Variant report

Variant	rs8001480
Chromosome Location	chr13:52187888-52187889
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	chr13:52186025..52188338-chr13:52190081..52191689,2	MCF-7	breast:
2	chr13:52156942..52159573-chr13:52185500..52188025,2	K562	blood:

Variant related genes	Relation type
ENSG00000139668	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1058141	0.85[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs10676	0.82[MEX][hapmap];0.84[AMR][1000 genomes]
rs12427805	0.85[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs12428478	0.85[CEU][hapmap];0.85[GIH][hapmap];0.95[LWK][hapmap];0.91[MKK][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes]
rs12430600	0.85[CEU][hapmap];0.85[GIH][hapmap];0.93[MEX][hapmap];0.88[AMR][1000 genomes]
rs12430760	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12431173	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17069413	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17075849	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17531181	0.85[CEU][hapmap];0.88[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2011276	0.88[AMR][1000 genomes]
rs2296027	0.85[CEU][hapmap];0.81[GIH][hapmap];0.93[MEX][hapmap];0.84[AMR][1000 genomes]
rs2408491	0.85[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs55910561	0.88[AMR][1000 genomes]
rs57837262	0.88[AMR][1000 genomes]
rs59291282	0.89[AMR][1000 genomes]
rs73199739	0.98[AMR][1000 genomes]
rs73199742	0.96[AMR][1000 genomes]
rs73199750	0.88[AMR][1000 genomes]
rs7321346	0.89[AMR][1000 genomes]
rs7329391	0.81[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs74086223	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9568662	0.83[AMR][1000 genomes]
rs9596530	0.85[CEU][hapmap]
rs9596572	0.85[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52165600-52188600	Weak transcription	Fetal Stomach	stomach
2	chr13:52168400-52194400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:52169800-52188600	Weak transcription	Esophagus	oesophagus
4	chr13:52169800-52188600	Weak transcription	Gastric	stomach
5	chr13:52173600-52190400	Weak transcription	Fetal Heart	heart
6	chr13:52174200-52188200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr13:52174400-52188400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr13:52175000-52188600	Weak transcription	Fetal Muscle Leg	muscle
9	chr13:52176000-52188600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:52176600-52188400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr13:52176600-52188400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr13:52177000-52188400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr13:52178200-52188600	Weak transcription	Left Ventricle	heart
14	chr13:52178200-52188600	Weak transcription	Lung	lung
15	chr13:52180600-52192000	Weak transcription	A549	lung
16	chr13:52181400-52188400	Enhancers	Primary B cells from peripheral blood	blood
17	chr13:52181600-52188600	Weak transcription	Thymus	Thymus
18	chr13:52182200-52188400	Weak transcription	Primary T cells from cord blood	blood
19	chr13:52182200-52188600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:52182200-52188600	Weak transcription	Aorta	Aorta
21	chr13:52182200-52188600	Weak transcription	Fetal Brain Female	brain
22	chr13:52182200-52194400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:52182400-52188600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:52182400-52191600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr13:52183200-52188400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr13:52183400-52188400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr13:52183400-52188600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr13:52183400-52188600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr13:52183600-52188200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr13:52183600-52188400	Weak transcription	Brain Angular Gyrus	brain
31	chr13:52184200-52188400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr13:52184200-52188400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:52184200-52188400	Weak transcription	Brain Substantia Nigra	brain
34	chr13:52184200-52188600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr13:52184400-52188200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr13:52184400-52188400	Weak transcription	Brain Anterior Caudate	brain
37	chr13:52184400-52188400	Weak transcription	Brain Hippocampus Middle	brain
38	chr13:52184400-52188600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:52184400-52194400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr13:52185200-52188400	Enhancers	NHDF-Ad	bronchial
41	chr13:52185800-52188600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:52186000-52188400	Weak transcription	Psoas Muscle	Psoas
43	chr13:52186000-52188600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr13:52186000-52189000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:52186200-52188400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:52186400-52188600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:52186600-52189000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr13:52186800-52188400	Enhancers	Primary B cells from cord blood	blood
49	chr13:52186800-52188400	Enhancers	Primary hematopoietic stem cells	blood
50	chr13:52186800-52188400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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