Variant report

Variant	rs58908685
Chromosome Location	chr8:125388989-125388990
allele	C/T
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	MAFK	chr8:125388725-125389049	IMR90	lung:	n/a	chr8:125388873-125388882 chr8:125388872-125388886 chr8:125388869-125388889 chr8:125388876-125388885 chr8:125388868-125388883 chr8:125388871-125388887
2	TCF12	chr8:125388670-125389178	SK-N-SH	brain:	n/a	n/a
3	MAFF	chr8:125388833-125388989	K562	blood:	n/a	chr8:125388872-125388886 chr8:125388866-125388884
4	FOS	chr8:125388691-125389061	HUVEC	blood vessel:	n/a	chr8:125388873-125388884
5	MAFK	chr8:125388735-125389020	HepG2	liver:	n/a	chr8:125388873-125388882 chr8:125388872-125388886 chr8:125388869-125388889 chr8:125388876-125388885 chr8:125388868-125388883 chr8:125388871-125388887
6	MAFF	chr8:125388749-125389033	HepG2	liver:	n/a	chr8:125388872-125388886 chr8:125388866-125388884
7	FOS	chr8:125388750-125389003	MCF10A-Er-Src	breast:	n/a	chr8:125388873-125388884

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125383110..125385797-chr8:125388504..125391185,6	MCF-7	breast:

Variant related genes	Relation type
TMEM65	TF binding region
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10091430	1.00[ASN][1000 genomes]
rs10096657	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10105192	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10111787	1.00[ASN][1000 genomes]
rs10956175	0.94[ASN][1000 genomes]
rs11997689	0.91[ASN][1000 genomes]
rs12680422	1.00[ASN][1000 genomes]
rs12680423	1.00[ASN][1000 genomes]
rs16899562	0.97[ASN][1000 genomes]
rs16899577	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17297352	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17369737	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17369758	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17369882	0.82[EUR][1000 genomes]
rs28456315	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28460280	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28536158	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28538795	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28562339	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28589797	0.82[EUR][1000 genomes]
rs28594441	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28657471	0.83[EUR][1000 genomes]
rs28694575	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28716042	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28721926	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28827823	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4128778	1.00[ASN][1000 genomes]
rs4128779	1.00[ASN][1000 genomes]
rs4257989	1.00[ASN][1000 genomes]
rs4355753	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4364615	0.90[ASN][1000 genomes]
rs4366066	1.00[ASN][1000 genomes]
rs4368958	1.00[ASN][1000 genomes]
rs4376483	1.00[ASN][1000 genomes]
rs4394374	0.94[ASN][1000 genomes]
rs4406374	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4503079	1.00[ASN][1000 genomes]
rs4617135	0.94[ASN][1000 genomes]
rs55679493	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55931807	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56036293	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56142132	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56166945	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56202566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56225520	0.97[ASN][1000 genomes]
rs56893629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66538719	0.82[EUR][1000 genomes]
rs67086747	0.83[EUR][1000 genomes]
rs6984676	0.83[ASN][1000 genomes]
rs6984691	0.83[ASN][1000 genomes]
rs7005950	1.00[ASN][1000 genomes]
rs7015493	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73332159	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73332171	0.82[AFR][1000 genomes]
rs73332190	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73332191	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73332193	0.82[AFR][1000 genomes]
rs73333906	0.88[AFR][1000 genomes]
rs73333910	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73333911	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73333922	0.88[AFR][1000 genomes]
rs73333937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73333948	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73333990	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73333993	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73333994	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73336155	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73336165	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73336173	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73336179	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73336181	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73336185	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73336195	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73336202	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73337903	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73337904	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73337971	0.85[EUR][1000 genomes]
rs7386980	1.00[ASN][1000 genomes]
rs7387197	0.84[ASN][1000 genomes]
rs7388185	1.00[ASN][1000 genomes]
rs7462023	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7819589	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7835963	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7836478	0.98[EUR][1000 genomes];0.94[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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125386000-125389200	Enhancers	Fetal Heart	heart
2	chr8:125387000-125389200	Enhancers	Pancreas	Pancrea
3	chr8:125387400-125390000	Enhancers	HSMM	muscle
4	chr8:125387600-125389600	Enhancers	HSMMtube	muscle
5	chr8:125388000-125389200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:125388000-125389400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:125388000-125389600	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:125388200-125389600	Enhancers	HUVEC	blood vessel
9	chr8:125388400-125389200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr8:125388600-125389200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:125388600-125389200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:125388800-125389000	Enhancers	Fetal Stomach	stomach
13	chr8:125388800-125389200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:125388800-125389200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:125388800-125389600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:125388800-125389600	Enhancers	Muscle Satellite Cultured Cells	--

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