Variant report

Variant	rs28722787
Chromosome Location	chr17:34249799-34249800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs11080360	0.90[ASN][1000 genomes]
rs11080361	0.90[ASN][1000 genomes]
rs11080362	0.90[ASN][1000 genomes]
rs11650409	0.90[ASN][1000 genomes]
rs11652536	0.89[ASN][1000 genomes]
rs11653016	0.90[ASN][1000 genomes]
rs11653051	0.90[ASN][1000 genomes]
rs11653204	0.89[ASN][1000 genomes]
rs11654713	0.87[ASN][1000 genomes]
rs11655533	0.90[ASN][1000 genomes]
rs11656556	0.89[ASN][1000 genomes]
rs11657908	0.90[ASN][1000 genomes]
rs11868801	0.90[ASN][1000 genomes]
rs11869976	0.90[ASN][1000 genomes]
rs16971670	0.90[ASN][1000 genomes]
rs2107538	0.86[EUR][1000 genomes]
rs2107540	0.89[ASN][1000 genomes]
rs2251660	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280787	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2291299	0.81[EUR][1000 genomes]
rs2376287	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526327	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2526328	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2702947	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2702948	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2735475	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28550999	0.90[ASN][1000 genomes]
rs28739295	0.89[ASN][1000 genomes]
rs28912068	0.86[ASN][1000 genomes]
rs34369685	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3760447	0.86[ASN][1000 genomes]
rs3809769	0.89[ASN][1000 genomes]
rs3817655	0.82[EUR][1000 genomes]
rs3817656	0.83[ASN][1000 genomes]
rs4251791	0.80[EUR][1000 genomes]
rs4795095	0.81[ASN][1000 genomes]
rs4795099	0.85[ASN][1000 genomes]
rs4795100	0.90[ASN][1000 genomes]
rs4795101	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4796119	0.81[ASN][1000 genomes]
rs4796120	0.83[ASN][1000 genomes]
rs4796123	0.84[ASN][1000 genomes]
rs4796124	0.89[ASN][1000 genomes]
rs4796125	0.89[ASN][1000 genomes]
rs4796126	0.87[ASN][1000 genomes]
rs4796127	0.89[ASN][1000 genomes]
rs4796128	0.88[EUR][1000 genomes]
rs4796130	0.90[ASN][1000 genomes]
rs4796131	0.90[ASN][1000 genomes]
rs4796133	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4796134	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4796136	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4796137	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4796138	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56294660	0.90[ASN][1000 genomes]
rs56344830	0.87[ASN][1000 genomes]
rs59247105	0.81[ASN][1000 genomes]
rs59338510	0.89[ASN][1000 genomes]
rs7211393	0.86[EUR][1000 genomes]
rs7213636	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215845	0.88[EUR][1000 genomes]
rs8066406	0.89[EUR][1000 genomes]
rs9303691	0.81[ASN][1000 genomes]
rs9303693	0.90[ASN][1000 genomes]
rs9754	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9789051	0.89[ASN][1000 genomes]
rs9889274	0.90[ASN][1000 genomes]
rs9889977	0.90[ASN][1000 genomes]
rs9890583	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9891064	0.90[ASN][1000 genomes]
rs9893004	0.90[ASN][1000 genomes]
rs9894314	0.90[ASN][1000 genomes]
rs9894799	0.90[ASN][1000 genomes]
rs9896265	0.89[ASN][1000 genomes]
rs9896658	0.90[ASN][1000 genomes]
rs9897665	0.90[ASN][1000 genomes]
rs9898132	0.83[ASN][1000 genomes]
rs9898152	0.81[ASN][1000 genomes]
rs9899215	0.90[ASN][1000 genomes]
rs9899866	0.90[ASN][1000 genomes]
rs9899870	0.90[ASN][1000 genomes]
rs9899881	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9900236	0.90[ASN][1000 genomes]
rs9901195	0.90[ASN][1000 genomes]
rs9901418	0.90[ASN][1000 genomes]
rs9903590	0.90[ASN][1000 genomes]
rs9904675	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9907145	0.90[ASN][1000 genomes]
rs9907295	0.92[ASN][1000 genomes]
rs9908011	0.90[ASN][1000 genomes]
rs9908525	0.90[ASN][1000 genomes]
rs9908907	0.83[ASN][1000 genomes]
rs9908928	0.81[EUR][1000 genomes]
rs9909050	0.89[ASN][1000 genomes]
rs9911016	0.90[ASN][1000 genomes]
rs9912049	0.90[ASN][1000 genomes]
rs9912284	0.90[ASN][1000 genomes]
rs9912552	0.83[ASN][1000 genomes]
rs9912571	0.90[ASN][1000 genomes]
rs9912793	0.90[ASN][1000 genomes]
rs9912894	0.90[ASN][1000 genomes]
rs9913488	0.90[ASN][1000 genomes]
rs9913559	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9914401	0.81[ASN][1000 genomes]
rs9914468	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3380735	chr17:34246253-34271932	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1063100	chr17:34246253-34397598	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv833424	chr17:34246253-34419476	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1056950	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1059795	chr17:34246253-34442620	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1060457	chr17:34246253-34442620	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv543320	chr17:34246253-34442620	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv949160	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34234600-34251200	Weak transcription	Fetal Thymus	thymus
2	chr17:34242600-34251400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:34244600-34252200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr17:34244800-34256800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr17:34244800-34257000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:34245400-34250000	Weak transcription	Fetal Intestine Small	intestine
7	chr17:34245400-34255000	Weak transcription	Fetal Intestine Large	intestine
8	chr17:34245600-34257200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:34245800-34251400	Weak transcription	Primary T cells from cord blood	blood
10	chr17:34246000-34251200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:34246000-34256800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr17:34246000-34256800	Weak transcription	Thymus	Thymus
13	chr17:34247200-34256800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:34247400-34257000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr17:34247600-34250600	Weak transcription	GM12878-XiMat	blood
16	chr17:34247600-34257000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr17:34248200-34251000	Weak transcription	Primary B cells from cord blood	blood
18	chr17:34248200-34256200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr17:34248200-34256800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:34248400-34250600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr17:34248600-34256600	Weak transcription	K562	blood
22	chr17:34249400-34250200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:34249600-34250200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr17:34249600-34251600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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