Variant report

Variant	rs73831540
Chromosome Location	chr3:47971053-47971054
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	chr3:47970944..47972483-chr3:47977512..47980509,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1486916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2351249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2593817	1.00[AMR][1000 genomes]
rs319683	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34675858	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3731495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4476528	1.00[AMR][1000 genomes]
rs55736379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55808934	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442092	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442103	1.00[EUR][1000 genomes]
rs6442104	1.00[AMR][1000 genomes]
rs6773945	1.00[AMR][1000 genomes]
rs7372108	1.00[AMR][1000 genomes]
rs73831544	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9863220	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9917799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006560	chr3:47867461-48037031	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv1011662	chr3:47891634-48019462	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv536561	chr3:47891634-48019462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv1796001	chr3:47912703-48012797	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1826403	chr3:47912703-48012797	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1835684	chr3:47912703-48123540	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1000817	chr3:47927730-48032401	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
12	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47910200-47978000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:47952000-47972400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:47952600-47979200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:47953800-47971600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:47957800-47991000	Weak transcription	Fetal Kidney	kidney
6	chr3:47958400-47976800	Weak transcription	Small Intestine	intestine
7	chr3:47958600-47971600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:47958600-47972000	Weak transcription	Brain Substantia Nigra	brain
9	chr3:47958600-47976400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr3:47958600-47980400	Weak transcription	Pancreas	Pancrea
11	chr3:47958600-47989600	Weak transcription	Brain Angular Gyrus	brain
12	chr3:47958800-47971200	Weak transcription	Brain Germinal Matrix	brain
13	chr3:47958800-47976800	Weak transcription	Fetal Heart	heart
14	chr3:47959000-47981000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:47959400-47971200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:47962800-47972400	Weak transcription	Spleen	Spleen
17	chr3:47962800-47988600	Weak transcription	Esophagus	oesophagus
18	chr3:47963000-47991200	Weak transcription	Gastric	stomach
19	chr3:47963400-47971600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr3:47966200-47991200	Weak transcription	A549	lung
21	chr3:47967000-47974000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:47967000-47981000	Weak transcription	HUVEC	blood vessel
23	chr3:47968200-47971200	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:47968400-47976000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:47968400-47981600	Weak transcription	Brain Anterior Caudate	brain
26	chr3:47968600-48012600	Weak transcription	Primary B cells from cord blood	blood
27	chr3:47968800-47980000	Weak transcription	Right Ventricle	heart
28	chr3:47968800-48003000	Weak transcription	Primary T cells from cord blood	blood
29	chr3:47969000-48003000	Weak transcription	Thymus	Thymus
30	chr3:47969200-48002600	Weak transcription	Aorta	Aorta
31	chr3:47969200-48003200	Weak transcription	Lung	lung
32	chr3:47969400-47979800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:47969600-47971600	Weak transcription	Placenta	Placenta
34	chr3:47969600-47972000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr3:47969600-47980400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr3:47969600-47982200	Weak transcription	GM12878-XiMat	blood
37	chr3:47969800-47971400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:47969800-47971400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:47969800-47971400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr3:47969800-47971400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr3:47969800-47971400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:47969800-47971400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:47969800-47971400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:47969800-47971400	Weak transcription	Fetal Thymus	thymus
45	chr3:47969800-47971600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr3:47969800-47971600	Weak transcription	Dnd41	blood
47	chr3:47969800-47971800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr3:47969800-47971800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr3:47969800-47972200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr3:47969800-47973600	Weak transcription	HSMM	muscle

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