Variant report

Variant	rs10197011
Chromosome Location	chr2:47747312-47747313
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47742968..47745561-chr2:47746454..47749350,4	MCF-7	breast:
2	chr2:47746690..47748585-chr2:47750437..47753356,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10175972	0.81[ASN][1000 genomes]
rs10188090	0.84[AMR][1000 genomes]
rs10206575	0.81[ASN][1000 genomes]
rs10206782	0.81[ASN][1000 genomes]
rs10209369	0.81[AMR][1000 genomes]
rs10495945	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11684661	0.86[AMR][1000 genomes]
rs11684737	0.84[AMR][1000 genomes]
rs11694689	0.80[AMR][1000 genomes]
rs11886591	0.82[AMR][1000 genomes]
rs11896864	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11901645	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12619323	0.81[AMR][1000 genomes]
rs12712994	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12991125	0.82[ASN][1000 genomes]
rs13031342	0.81[ASN][1000 genomes]
rs17502941	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2278139	0.86[ASN][1000 genomes]
rs2303424	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4550716	0.80[AMR][1000 genomes]
rs6718364	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6720555	0.83[AMR][1000 genomes]
rs6744097	0.83[ASN][1000 genomes]
rs6746426	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6759990	0.80[AMR][1000 genomes]
rs748780	0.80[AMR][1000 genomes]
rs7585174	0.81[ASN][1000 genomes]
rs7599880	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7601062	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7606984	0.85[ASN][1000 genomes]
rs876936	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs876937	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs879722	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9784092	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv817599	chr2:47738456-47961099	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47732600-47747800	Weak transcription	Primary T cells from cord blood	blood
2	chr2:47734000-47747600	Weak transcription	Brain Substantia Nigra	brain
3	chr2:47736800-47747400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:47736800-47747400	Weak transcription	Thymus	Thymus
5	chr2:47739200-47747600	Weak transcription	Pancreas	Pancrea
6	chr2:47741200-47747400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:47741600-47747400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:47742800-47748400	Enhancers	Fetal Brain Male	brain
9	chr2:47743600-47747600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:47743600-47778200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:47743800-47747400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:47744200-47747400	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:47744800-47747400	Enhancers	Fetal Thymus	thymus
14	chr2:47744800-47752600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:47745200-47747600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:47745200-47747600	Weak transcription	Ovary	ovary
17	chr2:47745200-47749400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:47745400-47748200	Weak transcription	Aorta	Aorta
19	chr2:47745800-47747800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:47746200-47747600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:47746400-47748000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:47746600-47747600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:47746600-47747600	Flanking Active TSS	Fetal Brain Female	brain
24	chr2:47746600-47748000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:47746800-47747400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:47746800-47747600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr2:47746800-47747800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:47747000-47747400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:47747000-47747600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
30	chr2:47747000-47747600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr2:47747000-47748200	Enhancers	K562	blood
32	chr2:47747200-47747400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
33	chr2:47747200-47747400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:47747200-47747400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:47747200-47747400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:47747200-47747400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr2:47747200-47747400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr2:47747200-47747400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:47747200-47747400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:47747200-47747400	Enhancers	GM12878-XiMat	blood
41	chr2:47747200-47747600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:47747200-47747600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr2:47747200-47747600	Enhancers	Primary B cells from peripheral blood	blood
44	chr2:47747200-47747600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr2:47747200-47747600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:47747200-47747600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr2:47747200-47747600	Active TSS	Brain Angular Gyrus	brain
48	chr2:47747200-47747600	Enhancers	Duodenum Mucosa	Duodenum
49	chr2:47747200-47747600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr2:47747200-47747800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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