Variant report

Variant	rs73547720
Chromosome Location	chr8:11671659-11671660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11663591..11666285-chr8:11668539..11672798,5	K562	blood:
2	chr8:11659663..11662114-chr8:11670043..11672183,2	K562	blood:
3	chr8:11663266..11668513-chr8:11668832..11673585,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000079459	Chromatin interaction
ENSG00000255046	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10098874	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1047643	0.86[EUR][1000 genomes]
rs1138666	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11994925	1.00[ASN][1000 genomes]
rs12543666	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2409834	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3088244	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34809309	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4442098	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55756391	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56936550	1.00[ASN][1000 genomes]
rs57720356	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57725348	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58164566	1.00[ASN][1000 genomes]
rs58258057	1.00[ASN][1000 genomes]
rs59035560	1.00[ASN][1000 genomes]
rs59799643	1.00[ASN][1000 genomes]
rs59946151	1.00[ASN][1000 genomes]
rs60197293	1.00[ASN][1000 genomes]
rs60893253	1.00[ASN][1000 genomes]
rs6984049	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6993946	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008523	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7009163	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7009514	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7011491	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013950	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73203490	1.00[ASN][1000 genomes]
rs73203493	1.00[ASN][1000 genomes]
rs73537869	1.00[ASN][1000 genomes]
rs73549728	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73549729	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7818952	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7843716	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7845566	0.85[EUR][1000 genomes]
rs883034	0.85[EUR][1000 genomes]
rs9644689	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv890363	chr8:11647941-11681825	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
17	nsv890365	chr8:11666451-11735641	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv890366	chr8:11666451-11900847	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv1031158	chr8:11666558-11759064	Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv539477	chr8:11666558-11759064	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv1018042	chr8:11667496-11882385	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv890367	chr8:11668153-11793529	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
23	nsv890368	chr8:11671041-11718528	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv890369	chr8:11671041-11840011	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11666800-11673000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:11666800-11673600	Strong transcription	Fetal Thymus	thymus
3	chr8:11667000-11672000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr8:11667000-11672000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr8:11667000-11672000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
6	chr8:11667000-11672000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
7	chr8:11667000-11672000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:11667000-11672200	Strong transcription	A549	lung
9	chr8:11667000-11672200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr8:11667000-11672400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:11667000-11673000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:11667000-11711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:11667200-11671800	Strong transcription	Primary B cells from cord blood	blood
14	chr8:11667200-11672200	Strong transcription	Primary hematopoietic stem cells	blood
15	chr8:11667200-11673000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:11667200-11673400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:11667200-11683800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:11667400-11671800	Strong transcription	Brain Germinal Matrix	brain
19	chr8:11667400-11672000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr8:11667400-11672000	Strong transcription	HUVEC	blood vessel
21	chr8:11667400-11672000	Strong transcription	Osteobl	bone
22	chr8:11667400-11672400	Strong transcription	NHDF-Ad	bronchial
23	chr8:11667400-11672400	Strong transcription	NHLF	lung
24	chr8:11667400-11672800	Strong transcription	Fetal Muscle Leg	muscle
25	chr8:11667400-11679200	Weak transcription	Fetal Brain Male	brain
26	chr8:11667600-11672000	Strong transcription	Primary T cells from cord blood	blood
27	chr8:11667600-11672200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:11668000-11671800	Genic enhancers	Adipose Nuclei	Adipose
29	chr8:11668000-11671800	Enhancers	Colon Smooth Muscle	Colon
30	chr8:11668000-11672600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr8:11668000-11673400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:11668200-11677800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:11668400-11672000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr8:11668800-11672000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:11668800-11672400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:11669200-11671800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:11669200-11671800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:11669400-11708000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:11669600-11675600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:11669600-11678000	Weak transcription	NH-A	brain
41	chr8:11669800-11672200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:11670000-11671800	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr8:11670000-11671800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:11670000-11671800	Genic enhancers	Brain Hippocampus Middle	brain
45	chr8:11670000-11672000	Genic enhancers	Dnd41	blood
46	chr8:11670000-11672200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:11670000-11672400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:11670000-11672600	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr8:11670000-11672600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:11670000-11672800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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