Variant report

Variant	rs72816972
Chromosome Location	chr5:180009032-180009033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:180008980-180009106	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:180004083..180005642-chr5:180006961..180009387,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263759	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1043287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55673143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55688275	0.82[EUR][1000 genomes]
rs55999117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56231520	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56318449	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56357267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61740192	0.82[EUR][1000 genomes]
rs62405546	0.91[AMR][1000 genomes]
rs72811134	0.82[EUR][1000 genomes]
rs72811138	0.82[EUR][1000 genomes]
rs72811140	0.82[EUR][1000 genomes]
rs72811143	0.82[EUR][1000 genomes]
rs72811145	0.82[EUR][1000 genomes]
rs72811148	0.82[EUR][1000 genomes]
rs72811158	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72811160	0.91[EUR][1000 genomes]
rs72811161	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72811164	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72811166	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72811168	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812928	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812934	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812935	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812937	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812939	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812941	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812944	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812945	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812946	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72812949	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812951	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812957	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812960	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812965	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812966	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812969	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812971	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812973	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812978	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812979	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812980	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812981	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812983	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72812984	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72814954	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72814958	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72814971	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72814974	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72814977	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72814986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72814988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72814991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72815000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7728141	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	esv2762572	chr5:179996987-180183359	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv533204	chr5:180008319-180273638	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179994200-180013800	Weak transcription	NHEK	skin
2	chr5:179995200-180009200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:180001200-180012400	Weak transcription	Fetal Intestine Small	intestine
4	chr5:180001200-180012400	Weak transcription	Lung	lung
5	chr5:180001400-180009600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:180001400-180010000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:180001400-180010400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:180001600-180010800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:180002600-180009200	Weak transcription	Fetal Brain Female	brain
10	chr5:180003600-180015600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:180003800-180009800	Weak transcription	HUVEC	blood vessel
12	chr5:180003800-180010000	Weak transcription	Osteobl	bone
13	chr5:180003800-180012200	Weak transcription	Primary T cells from cord blood	blood
14	chr5:180003800-180015000	Weak transcription	K562	blood
15	chr5:180004600-180009200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:180004800-180011000	Weak transcription	NH-A	brain
17	chr5:180005000-180009800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:180005600-180009200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:180005600-180011000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:180005600-180015000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:180005800-180009200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:180005800-180009200	Weak transcription	Fetal Intestine Large	intestine
23	chr5:180005800-180009400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:180005800-180009400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:180005800-180009400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:180005800-180009600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:180005800-180010400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:180005800-180010600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:180005800-180010800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:180005800-180010800	Weak transcription	Fetal Heart	heart
31	chr5:180005800-180011000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:180005800-180013000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:180006000-180009400	Weak transcription	HSMM	muscle
34	chr5:180006000-180010600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:180006000-180011000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:180006400-180010400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr5:180006600-180009400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:180007000-180010800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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