Variant report

Variant	rs73680316
Chromosome Location	chr8:54728839-54728840
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54726065..54728887-chr8:54733160..54735179,2	MCF-7	breast:
2	chr8:54725647..54728988-chr8:54753947..54756397,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1031979	0.85[EUR][1000 genomes]
rs1031980	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11996300	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12056719	0.84[EUR][1000 genomes]
rs12115070	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12234972	0.92[EUR][1000 genomes]
rs1552148	0.92[EUR][1000 genomes]
rs16919507	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16919508	0.82[AMR][1000 genomes]
rs16919563	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16919571	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16919573	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1872063	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1905061	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2170444	0.90[EUR][1000 genomes]
rs3735831	0.92[EUR][1000 genomes]
rs3757954	0.87[EUR][1000 genomes]
rs4236945	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4737192	0.85[EUR][1000 genomes]
rs4737518	0.82[AMR][1000 genomes]
rs4737753	0.93[ASN][1000 genomes]
rs4737761	0.93[ASN][1000 genomes]
rs4737764	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4737765	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4737821	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4737974	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738025	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4738027	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56956173	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57071607	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57550901	0.81[ASN][1000 genomes]
rs58970885	0.82[AMR][1000 genomes]
rs6473893	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984257	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6988009	0.84[EUR][1000 genomes]
rs6988808	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6988812	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6994851	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6997003	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6997127	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7005696	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7006934	0.88[ASN][1000 genomes]
rs7009705	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7018162	0.85[EUR][1000 genomes]
rs73680321	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73682568	0.83[EUR][1000 genomes]
rs73682570	0.92[EUR][1000 genomes]
rs7843701	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs958268	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9643820	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54686400-54745800	Weak transcription	Psoas Muscle	Psoas
2	chr8:54687600-54753600	Weak transcription	A549	lung
3	chr8:54700000-54740400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:54700200-54731600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr8:54707800-54740400	Weak transcription	K562	blood
6	chr8:54709000-54740800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:54710000-54733000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:54710200-54755000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:54713000-54750000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:54713200-54740200	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:54714200-54740600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:54714600-54754000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:54715800-54731600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:54716000-54730800	Strong transcription	Primary B cells from cord blood	blood
15	chr8:54716400-54730400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr8:54716400-54731400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:54716400-54732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:54717600-54730600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:54717800-54731200	Strong transcription	Placenta	Placenta
20	chr8:54719400-54730600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:54719400-54730600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr8:54719400-54730600	Strong transcription	Dnd41	blood
23	chr8:54719400-54731400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr8:54719400-54731400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:54719600-54730600	Strong transcription	Fetal Thymus	thymus
26	chr8:54719800-54730600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:54720000-54730400	Strong transcription	Left Ventricle	heart
28	chr8:54720000-54731200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:54720000-54745800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:54720200-54740400	Weak transcription	Fetal Heart	heart
31	chr8:54720600-54731400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:54720600-54752400	Weak transcription	Small Intestine	intestine
33	chr8:54721000-54730800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr8:54721400-54731400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:54721600-54730400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:54721600-54730600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:54721600-54730600	Strong transcription	Adipose Nuclei	Adipose
38	chr8:54721800-54731200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:54721800-54740400	Weak transcription	Fetal Brain Male	brain
40	chr8:54722000-54730800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:54722400-54730800	Strong transcription	Fetal Intestine Large	intestine
42	chr8:54722600-54730800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:54722800-54740400	Weak transcription	Brain Angular Gyrus	brain
44	chr8:54723400-54730600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:54723400-54730800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:54724000-54730400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:54724000-54730600	Strong transcription	Primary T cells from cord blood	blood
48	chr8:54724000-54730800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:54724000-54731400	Strong transcription	Osteobl	bone
50	chr8:54724200-54730600	Strong transcription	Primary hematopoietic stem cells	blood

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