Variant report

Variant	rs9847073
Chromosome Location	chr3:52144947-52144948
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	chr3:52142908..52145897-chr3:52147537..52149613,3	K562	blood:
2	chr3:52131272..52134200-chr3:52142689..52145200,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs123681	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12386365	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13314125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13319566	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs164638	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs164639	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17051957	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17051977	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171294	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183029	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2304505	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28452586	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28659792	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs352146	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352147	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs352148	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs352149	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs352150	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs352151	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs352153	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55664415	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55834589	0.91[EUR][1000 genomes]
rs56281986	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56322622	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57335685	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57466127	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59890038	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6781635	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72964042	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72964044	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7638246	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808787	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876782	1.00[CEU][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes]
rs893056	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9809254	1.00[CEU][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs9809977	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9811707	0.84[ASW][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9815010	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9816434	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9817653	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9830293	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9841469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9843299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9843852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9846049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9847092	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9857878	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9860982	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9865330	0.94[GIH][hapmap];0.88[TSI][hapmap]
rs9868101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
3	nsv876786	chr3:52041566-52236762	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52110600-52179400	Weak transcription	Brain Germinal Matrix	brain
2	chr3:52124200-52157200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:52126200-52160600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:52128600-52157000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:52129200-52155400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:52132200-52146800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:52132200-52155200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:52133200-52162000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:52133400-52155000	Weak transcription	Osteobl	bone
10	chr3:52136600-52153600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:52136800-52154400	Weak transcription	Hela-S3	cervix
12	chr3:52136800-52155000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:52136800-52156000	Weak transcription	A549	lung
14	chr3:52136800-52187200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:52137200-52152400	Weak transcription	GM12878-XiMat	blood
16	chr3:52137600-52146600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:52138200-52153800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr3:52138800-52149400	Strong transcription	Thymus	Thymus
19	chr3:52139600-52151400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:52139600-52154600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr3:52139800-52153800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:52140400-52178200	Strong transcription	Dnd41	blood
23	chr3:52140600-52147400	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:52140600-52160800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:52140800-52155000	Weak transcription	Primary T cells from cord blood	blood
26	chr3:52141200-52145400	Enhancers	Fetal Brain Male	brain
27	chr3:52141400-52151400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:52141400-52154800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:52141600-52145800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:52142000-52145000	Enhancers	Adipose Nuclei	Adipose
31	chr3:52142000-52145400	Enhancers	Primary hematopoietic stem cells	blood
32	chr3:52142000-52145400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:52142000-52145400	Enhancers	Left Ventricle	heart
34	chr3:52142200-52145400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:52142200-52148600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:52142400-52145000	Enhancers	Fetal Lung	lung
37	chr3:52142400-52145400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:52142400-52146000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr3:52142400-52148600	Weak transcription	HMEC	breast
40	chr3:52142600-52145000	Enhancers	Lung	lung
41	chr3:52142600-52148000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:52142800-52145000	Enhancers	Pancreas	Pancrea
43	chr3:52142800-52148800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:52143000-52145200	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:52143000-52145400	Enhancers	Right Atrium	heart
46	chr3:52143000-52145400	Enhancers	Right Ventricle	heart
47	chr3:52143000-52145800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:52143000-52146400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr3:52143000-52151800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:52143000-52153800	Weak transcription	K562	blood

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