Variant report

Variant	rs72771700
Chromosome Location	chr5:93914398-93914399
allele	C/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	STAT3	chr5:93914230-93914485	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr5:93914260-93914410	AG10803	skin:	n/a	n/a

Variant related genes	Relation type
ENSG00000211498	TF binding region

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1006626	0.86[ASN][1000 genomes]
rs1006627	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1026232	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1031389	0.81[ASN][1000 genomes]
rs11135406	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11135407	0.89[ASN][1000 genomes]
rs11135408	0.88[ASN][1000 genomes]
rs11135409	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11135410	0.81[EUR][1000 genomes]
rs1124668	0.85[ASN][1000 genomes]
rs12514098	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12517059	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12519472	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12521289	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12652705	0.87[ASN][1000 genomes]
rs12653594	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12653819	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12654602	0.89[ASN][1000 genomes]
rs12655521	0.88[ASN][1000 genomes]
rs12655665	0.88[ASN][1000 genomes]
rs12655669	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12656300	0.88[ASN][1000 genomes]
rs12656694	0.89[ASN][1000 genomes]
rs12657227	0.88[ASN][1000 genomes]
rs12657323	0.89[ASN][1000 genomes]
rs12659125	0.82[ASN][1000 genomes]
rs12659597	0.88[ASN][1000 genomes]
rs1390642	0.89[ASN][1000 genomes]
rs1390644	0.87[ASN][1000 genomes]
rs1451735	0.87[ASN][1000 genomes]
rs1562911	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17083824	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17083825	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083826	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083827	0.89[ASN][1000 genomes]
rs17083828	0.89[ASN][1000 genomes]
rs17083873	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17083887	0.87[ASN][1000 genomes]
rs17083888	0.85[ASN][1000 genomes]
rs17083896	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17083911	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2032813	0.87[ASN][1000 genomes]
rs2044910	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2044911	0.88[ASN][1000 genomes]
rs2047318	0.87[ASN][1000 genomes]
rs2047319	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2122984	0.89[ASN][1000 genomes]
rs2122985	0.89[ASN][1000 genomes]
rs2132548	0.88[ASN][1000 genomes]
rs2201620	0.86[ASN][1000 genomes]
rs2220965	0.85[ASN][1000 genomes]
rs2270626	0.82[ASN][1000 genomes]
rs2346764	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2346765	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34074526	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3947399	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4537040	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56242961	0.89[ASN][1000 genomes]
rs56824518	0.87[ASN][1000 genomes]
rs57041121	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57188935	0.89[ASN][1000 genomes]
rs60191000	0.87[ASN][1000 genomes]
rs6556850	0.88[ASN][1000 genomes]
rs6556851	0.88[ASN][1000 genomes]
rs66464936	0.87[ASN][1000 genomes]
rs66483218	0.87[ASN][1000 genomes]
rs66488253	0.89[ASN][1000 genomes]
rs66518525	0.88[ASN][1000 genomes]
rs66578784	0.85[ASN][1000 genomes]
rs66694903	0.89[ASN][1000 genomes]
rs66696350	0.88[ASN][1000 genomes]
rs66936860	0.88[ASN][1000 genomes]
rs67313609	0.86[ASN][1000 genomes]
rs67531524	0.89[ASN][1000 genomes]
rs67831380	0.86[ASN][1000 genomes]
rs67994891	0.87[ASN][1000 genomes]
rs6869588	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6879347	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6879384	0.87[ASN][1000 genomes]
rs6883128	0.87[ASN][1000 genomes]
rs6883326	0.87[ASN][1000 genomes]
rs6891545	0.84[ASN][1000 genomes]
rs6893587	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6897550	0.85[ASN][1000 genomes]
rs72773504	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72773507	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72773513	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72773517	0.89[ASN][1000 genomes]
rs72773522	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72773523	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72773524	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72773526	0.89[ASN][1000 genomes]
rs72773528	0.83[ASN][1000 genomes]
rs72773533	0.88[ASN][1000 genomes]
rs72773541	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72773547	0.86[ASN][1000 genomes]
rs72773549	0.87[ASN][1000 genomes]
rs72773556	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72773573	0.84[ASN][1000 genomes]
rs72773575	0.82[ASN][1000 genomes]
rs72773586	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73136312	0.89[ASN][1000 genomes]
rs7446179	0.89[ASN][1000 genomes]
rs755900	0.88[ASN][1000 genomes]
rs7735659	0.88[ASN][1000 genomes]
rs7737187	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7737366	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9918142	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv534495	chr5:93789736-93962131	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv598952	chr5:93823951-93956986	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93903000-93919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:93908400-93916600	Weak transcription	Ovary	ovary
3	chr5:93909000-93915800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr5:93909200-93915200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:93909400-93915400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:93909600-93915000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:93909800-93914400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:93909800-93918800	Weak transcription	Pancreas	Pancrea
9	chr5:93910400-93914600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr5:93910600-93915000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr5:93911200-93914600	Enhancers	Primary T cells from cord blood	blood
12	chr5:93911200-93914800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:93911800-93916800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:93911800-93916800	Weak transcription	NHEK	skin
15	chr5:93912400-93914600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:93913000-93914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:93913000-93914600	Flanking Active TSS	GM12878-XiMat	blood
18	chr5:93913200-93914400	Enhancers	Dnd41	blood
19	chr5:93913200-93914600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:93913200-93915000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr5:93913200-93915000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr5:93913800-93914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:93913800-93914600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:93913800-93914800	Enhancers	Primary B cells from peripheral blood	blood
25	chr5:93914000-93914400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr5:93914000-93914600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:93914200-93914600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:93914200-93918800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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