Variant report

Variant	rs2571170
Chromosome Location	chr19:44944639-44944640
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	chr19:44943302..44945039-chr19:44949039..44951597,2	MCF-7	breast:
2	chr19:44928515..44931460-chr19:44942869..44945862,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2293164	0.80[CEU][hapmap];0.90[TSI][hapmap]
rs2466416	0.88[ASN][1000 genomes]
rs2571158	0.90[CHB][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2571159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571160	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2571161	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571162	0.90[CHB][hapmap];0.89[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2571163	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2571164	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571165	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs2571166	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2571169	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2571174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722693	0.97[ASN][1000 genomes]
rs2722697	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722698	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs2722699	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2722700	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2722701	0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2722702	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2734453	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2734457	0.97[ASN][1000 genomes]
rs4141695	0.80[CEU][hapmap]
rs4802224	1.00[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	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2756827	chr19:44894102-44947444	Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2758764	chr19:44894102-44947444	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44928400-44951800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:44929200-44945400	ZNF genes & repeats	Brain Germinal Matrix	brain
3	chr19:44932000-44953200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr19:44934600-44950800	Weak transcription	Hela-S3	cervix
5	chr19:44936000-44951400	Weak transcription	Fetal Heart	heart
6	chr19:44936400-44952000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:44937400-44946400	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr19:44937400-44951800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:44938400-44951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:44938600-44946600	Weak transcription	HSMM	muscle
11	chr19:44938800-44945800	Weak transcription	NHLF	lung
12	chr19:44938800-44946400	Weak transcription	Fetal Kidney	kidney
13	chr19:44938800-44951600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr19:44939000-44945400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr19:44939000-44946000	Weak transcription	NH-A	brain
16	chr19:44939000-44948400	Weak transcription	NHEK	skin
17	chr19:44940000-44948200	Weak transcription	Osteobl	bone
18	chr19:44940000-44950600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:44940200-44946200	Weak transcription	NHDF-Ad	bronchial
20	chr19:44940200-44951200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr19:44940600-44951800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:44940600-44951800	Weak transcription	Fetal Thymus	thymus
23	chr19:44941000-44946000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:44941000-44946000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:44941600-44950400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:44942000-44950200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:44942000-44950400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:44942000-44950800	ZNF genes & repeats	Fetal Brain Female	brain
29	chr19:44942200-44946600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:44942200-44951800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:44942400-44950400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr19:44942400-44951400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:44942600-44952000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:44942800-44945400	Weak transcription	HMEC	breast
35	chr19:44943000-44945200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr19:44943000-44947200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:44943400-44944800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:44943400-44944800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:44943400-44944800	Weak transcription	Left Ventricle	heart
40	chr19:44943400-44945200	Weak transcription	Primary B cells from cord blood	blood
41	chr19:44943400-44945600	Strong transcription	Ovary	ovary
42	chr19:44943400-44945800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:44943400-44946000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:44943400-44946000	Weak transcription	Brain Hippocampus Middle	brain
45	chr19:44943400-44946400	Weak transcription	Right Ventricle	heart
46	chr19:44943600-44945000	Weak transcription	Fetal Intestine Large	intestine
47	chr19:44943600-44946600	Weak transcription	HSMMtube	muscle
48	chr19:44943800-44945200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr19:44943800-44946000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr19:44943800-44946400	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links