Variant report

Variant	rs71356521
Chromosome Location	chr17:46217457-46217458
allele	AAAAGTTT/GAAAGTTTACTC
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	chr17:46217324-46217493	MCF10A-Er-Src	breast:	n/a	n/a
2	SPI1	chr17:46217160-46217748	HL-60	blood:	n/a	n/a
3	SPI1	chr17:46217348-46217554	K562	blood:	n/a	n/a
4	POLR2A	chr17:46217008-46218120	GM12878	blood:	n/a	n/a
5	JUND	chr17:46217363-46217528	K562	blood:	n/a	n/a
6	SPI1	chr17:46217279-46217692	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
SKAP1	TF binding region

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs1002330	0.82[ASN][1000 genomes]
rs1010228	0.93[ASN][1000 genomes]
rs1010230	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10445339	0.81[ASN][1000 genomes]
rs10445377	0.82[ASN][1000 genomes]
rs10853097	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10853098	0.82[ASN][1000 genomes]
rs11079808	0.86[ASN][1000 genomes]
rs11079809	0.93[ASN][1000 genomes]
rs11079814	0.80[ASN][1000 genomes]
rs11872095	0.80[ASN][1000 genomes]
rs12452956	0.80[ASN][1000 genomes]
rs12600980	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12936369	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12939334	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12939514	0.82[ASN][1000 genomes]
rs12941295	0.86[ASN][1000 genomes]
rs12941830	0.82[ASN][1000 genomes]
rs12943543	0.86[ASN][1000 genomes]
rs12946143	0.82[AFR][1000 genomes]
rs12946208	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12947089	0.82[ASN][1000 genomes]
rs12950213	0.82[ASN][1000 genomes]
rs12950402	0.86[ASN][1000 genomes]
rs1316657	0.82[ASN][1000 genomes]
rs1452662	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1452663	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1452665	0.91[ASN][1000 genomes]
rs16951519	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs16953927	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16953941	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16954268	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16954324	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17620033	0.80[ASN][1000 genomes]
rs17681336	0.82[ASN][1000 genomes]
rs182305	0.82[EUR][1000 genomes]
rs1860866	0.93[ASN][1000 genomes]
rs1979897	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2021752	0.82[ASN][1000 genomes]
rs2021811	0.81[ASN][1000 genomes]
rs208005	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs208008	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs208009	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs208011	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs208012	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs208015	0.90[ASN][1000 genomes]
rs208019	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2109982	0.80[ASN][1000 genomes]
rs2109983	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2109984	0.86[ASN][1000 genomes]
rs2123341	0.80[ASN][1000 genomes]
rs2240120	0.82[AFR][1000 genomes]
rs2240121	0.85[AFR][1000 genomes]
rs2278868	0.80[ASN][1000 genomes]
rs2305433	0.80[ASN][1000 genomes]
rs2325783	0.80[AFR][1000 genomes]
rs2325784	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2325804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2325885	0.91[ASN][1000 genomes]
rs34949267	0.82[ASN][1000 genomes]
rs34980108	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35688835	0.86[ASN][1000 genomes]
rs36071506	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3744346	0.93[ASN][1000 genomes]
rs3744347	0.82[ASN][1000 genomes]
rs3785737	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3792692	0.82[ASN][1000 genomes]
rs3792694	0.80[ASN][1000 genomes]
rs3805370	0.80[ASN][1000 genomes]
rs3805371	0.80[ASN][1000 genomes]
rs3815472	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3897789	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3897986	0.80[ASN][1000 genomes]
rs4794441	0.86[ASN][1000 genomes]
rs4794448	0.86[ASN][1000 genomes]
rs4794449	0.86[ASN][1000 genomes]
rs4794450	0.81[ASN][1000 genomes]
rs4794451	0.86[ASN][1000 genomes]
rs4794453	0.86[ASN][1000 genomes]
rs4995899	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55696440	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55920502	0.81[EUR][1000 genomes]
rs62064953	0.85[ASN][1000 genomes]
rs6504031	0.86[ASN][1000 genomes]
rs6504032	0.84[ASN][1000 genomes]
rs67345313	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71356520	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7209585	0.85[ASN][1000 genomes]
rs7209730	0.93[ASN][1000 genomes]
rs7213339	0.81[ASN][1000 genomes]
rs7213876	0.80[ASN][1000 genomes]
rs7218700	0.89[ASN][1000 genomes]
rs7220520	0.82[ASN][1000 genomes]
rs7220768	0.80[ASN][1000 genomes]
rs7220922	0.82[ASN][1000 genomes]
rs7221441	0.82[ASN][1000 genomes]
rs7222136	0.93[ASN][1000 genomes]
rs7223867	0.82[ASN][1000 genomes]
rs7224461	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7225550	0.82[ASN][1000 genomes]
rs741058	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8065670	0.86[ASN][1000 genomes]
rs8065993	0.86[ASN][1000 genomes]
rs8066049	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8066391	0.88[ASN][1000 genomes]
rs8071199	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8075270	0.80[ASN][1000 genomes]
rs8075500	0.84[ASN][1000 genomes]
rs8076380	0.86[ASN][1000 genomes]
rs8077860	0.86[ASN][1000 genomes]
rs8079616	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8080662	0.86[ASN][1000 genomes]
rs978263	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9807087	0.93[ASN][1000 genomes]
rs9889470	0.83[ASN][1000 genomes]
rs9890691	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9903692	0.93[ASN][1000 genomes]
rs9909933	0.91[ASN][1000 genomes]
rs9910516	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46191200-46220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:46197800-46221000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:46200400-46236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr17:46201400-46217600	Weak transcription	Fetal Thymus	thymus
5	chr17:46204000-46220000	Weak transcription	GM12878-XiMat	blood
6	chr17:46204200-46225200	Weak transcription	Liver	Liver
7	chr17:46204400-46221000	Weak transcription	Thymus	Thymus
8	chr17:46206400-46220800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr17:46210000-46224200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr17:46211200-46231600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr17:46212400-46234800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr17:46213400-46220800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr17:46215400-46225400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:46215600-46219000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr17:46216400-46251400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr17:46216600-46218000	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr17:46216600-46219000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr17:46216600-46235600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr17:46216800-46219600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:46217000-46217600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr17:46217000-46217600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:46217000-46217800	Enhancers	HUVEC	blood vessel
23	chr17:46217000-46218000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr17:46217000-46218000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:46217000-46218000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr17:46217000-46218200	Enhancers	Primary hematopoietic stem cells	blood
27	chr17:46217000-46218200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr17:46217000-46219800	Strong transcription	Primary T cells from cord blood	blood
29	chr17:46217400-46217600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr17:46217400-46218000	Enhancers	Primary B cells from cord blood	blood
31	chr17:46217400-46218000	Enhancers	Primary B cells from peripheral blood	blood
32	chr17:46217400-46218200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood

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