Variant report

Variant	rs72674819
Chromosome Location	chr8:95480300-95480301
allele	A/C
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	EP300	chr8:95479997-95480684	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr8:95480130-95480716	SK-N-SH	brain:	n/a	n/a
3	MAFK	chr8:95480131-95480427	IMR90	lung:	n/a	n/a
4	GATA2	chr8:95480153-95480618	HUVEC	blood vessel:	n/a	n/a
5	FOS	chr8:95480089-95480581	HUVEC	blood vessel:	n/a	n/a
6	GATA3	chr8:95480029-95480717	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr8:95480056-95480745	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr8:95479942-95480732	SK-N-SH	brain:	n/a	n/a
9	JUND	chr8:95480032-95480664	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
RAD54B	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10087254	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10087503	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095298	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1011249	0.85[ASN][1000 genomes]
rs10216902	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10464877	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10808669	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956913	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956914	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12375355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545262	0.80[ASN][1000 genomes]
rs12549544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12674614	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12675415	0.90[ASN][1000 genomes]
rs12676373	0.84[ASN][1000 genomes]
rs12680029	0.80[ASN][1000 genomes]
rs12681504	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12682038	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12682524	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13248829	0.87[EUR][1000 genomes]
rs1372048	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561648	0.86[ASN][1000 genomes]
rs16916760	0.86[ASN][1000 genomes]
rs16916802	0.82[ASN][1000 genomes]
rs1872889	0.83[ASN][1000 genomes]
rs2011246	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043987	0.86[ASN][1000 genomes]
rs2043988	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165405	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2171440	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2197003	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2197004	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291439	0.84[ASN][1000 genomes]
rs2381793	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2381886	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28641679	0.80[ASN][1000 genomes]
rs2919655	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2919656	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919657	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919658	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919659	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919660	0.86[ASN][1000 genomes]
rs2919662	0.86[ASN][1000 genomes]
rs2919664	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919667	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919668	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919670	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919672	0.85[ASN][1000 genomes]
rs2919673	0.85[ASN][1000 genomes]
rs2921386	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921389	0.86[ASN][1000 genomes]
rs2930956	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930958	0.85[ASN][1000 genomes]
rs2930961	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2930962	0.85[ASN][1000 genomes]
rs2930963	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930964	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930968	0.86[ASN][1000 genomes]
rs2930970	0.86[ASN][1000 genomes]
rs2930971	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2931631	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2931632	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2931633	0.84[ASN][1000 genomes]
rs2960121	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2960122	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3019145	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3019146	0.84[ASN][1000 genomes]
rs3019147	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019149	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019150	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019154	0.85[ASN][1000 genomes]
rs3019155	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019156	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019277	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019278	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019279	0.83[ASN][1000 genomes]
rs3019280	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019281	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019282	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019284	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35918414	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4735291	0.94[ASN][1000 genomes]
rs4735292	0.82[ASN][1000 genomes]
rs4735293	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55963151	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980687	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6999103	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999976	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672679	0.90[ASN][1000 genomes]
rs752460	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9297939	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1835971	chr8:95467241-95490541	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95449400-95485200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:95449400-95486200	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:95450000-95486000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:95450600-95484800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:95454000-95485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:95454200-95485400	Weak transcription	Fetal Intestine Small	intestine
7	chr8:95455400-95485000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:95455600-95486200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:95460000-95485000	Weak transcription	HepG2	liver
10	chr8:95462000-95486400	Weak transcription	Primary B cells from cord blood	blood
11	chr8:95464400-95485800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:95465200-95480600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:95468000-95480400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:95468000-95485200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:95468600-95485800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:95468800-95484800	Weak transcription	Fetal Lung	lung
17	chr8:95469000-95485600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:95469000-95486000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:95470600-95485800	Weak transcription	Fetal Thymus	thymus
20	chr8:95471000-95480600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:95471600-95480600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:95472200-95480800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:95472400-95486400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:95472800-95486600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:95473800-95480400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:95474800-95486200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:95475200-95486800	Weak transcription	Gastric	stomach
28	chr8:95475600-95480600	Strong transcription	Dnd41	blood
29	chr8:95475800-95486800	Weak transcription	Aorta	Aorta
30	chr8:95476200-95480600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:95476200-95486200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:95476400-95480600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:95477200-95484800	Weak transcription	Hela-S3	cervix
34	chr8:95477200-95485600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:95478000-95483200	Weak transcription	K562	blood
36	chr8:95478200-95480400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:95478400-95481200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:95478800-95486200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr8:95479200-95480600	ZNF genes & repeats	GM12878-XiMat	blood
40	chr8:95479400-95480400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:95479400-95486000	Weak transcription	Fetal Stomach	stomach
42	chr8:95479400-95486000	Weak transcription	Thymus	Thymus
43	chr8:95479600-95480800	Enhancers	HUVEC	blood vessel
44	chr8:95479600-95485200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:95479800-95480600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr8:95479800-95480600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:95479800-95480600	Strong transcription	Primary T cells from cord blood	blood
48	chr8:95479800-95480600	Enhancers	HSMM	muscle
49	chr8:95479800-95480800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:95479800-95480800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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