Variant report

Variant	rs2280787
Chromosome Location	chr17:34257050-34257051
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs11080360	0.88[ASN][1000 genomes]
rs11080361	0.88[ASN][1000 genomes]
rs11080362	0.88[ASN][1000 genomes]
rs11650409	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11652536	0.87[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs11653016	0.88[ASN][1000 genomes]
rs11653051	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11653204	0.87[ASN][1000 genomes]
rs11654713	0.89[ASN][1000 genomes]
rs11655533	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11656556	0.87[ASN][1000 genomes]
rs11657908	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11868801	0.88[ASN][1000 genomes]
rs11869976	0.88[ASN][1000 genomes]
rs16971670	0.88[ASN][1000 genomes]
rs2107538	0.86[EUR][1000 genomes]
rs2107540	0.87[ASN][1000 genomes]
rs2251660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2291299	0.81[EUR][1000 genomes]
rs2376287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2526327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2526328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2702947	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2702948	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2735475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28550999	0.88[ASN][1000 genomes]
rs28722787	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28739295	0.87[ASN][1000 genomes]
rs28912068	0.84[ASN][1000 genomes]
rs34369685	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3760447	0.84[ASN][1000 genomes]
rs3809769	0.87[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs3817655	0.82[EUR][1000 genomes]
rs3817656	0.81[ASN][1000 genomes]
rs4251751	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs4251752	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs4251791	0.80[EUR][1000 genomes]
rs4795089	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs4795095	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs4795099	0.83[ASN][1000 genomes]
rs4795100	0.88[ASN][1000 genomes]
rs4795101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4796107	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs4796108	0.88[JPT][hapmap]
rs4796112	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs4796114	0.85[JPT][hapmap]
rs4796115	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs4796118	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs4796119	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs4796120	0.87[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4796123	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs4796124	0.87[ASN][1000 genomes]
rs4796125	0.87[ASN][1000 genomes]
rs4796126	0.85[ASN][1000 genomes]
rs4796127	0.87[ASN][1000 genomes]
rs4796128	0.88[EUR][1000 genomes]
rs4796130	0.88[ASN][1000 genomes]
rs4796131	0.88[ASN][1000 genomes]
rs4796133	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4796134	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4796136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4796137	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4796138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56294660	0.88[ASN][1000 genomes]
rs56344830	0.85[ASN][1000 genomes]
rs59338510	0.87[ASN][1000 genomes]
rs7211393	0.86[EUR][1000 genomes]
rs7213636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7215845	0.88[EUR][1000 genomes]
rs8066406	0.89[EUR][1000 genomes]
rs9303691	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs9303693	0.88[ASN][1000 genomes]
rs9754	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9789051	0.87[ASN][1000 genomes]
rs9889274	0.80[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs9889977	0.88[ASN][1000 genomes]
rs9890583	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9891064	0.88[ASN][1000 genomes]
rs9893004	0.88[ASN][1000 genomes]
rs9894314	0.88[ASN][1000 genomes]
rs9894799	0.88[ASN][1000 genomes]
rs9896265	0.87[ASN][1000 genomes]
rs9896658	0.88[ASN][1000 genomes]
rs9897665	0.88[ASN][1000 genomes]
rs9898132	0.87[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs9898152	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs9899215	0.88[ASN][1000 genomes]
rs9899866	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9899870	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9899881	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9900236	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9901195	0.88[ASN][1000 genomes]
rs9901418	0.88[ASN][1000 genomes]
rs9903590	0.88[ASN][1000 genomes]
rs9904675	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9907145	0.88[ASN][1000 genomes]
rs9907295	0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9908011	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9908525	0.88[ASN][1000 genomes]
rs9908907	0.81[ASN][1000 genomes]
rs9908928	0.81[EUR][1000 genomes]
rs9909050	0.87[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs9911016	0.88[ASN][1000 genomes]
rs9912049	0.88[ASN][1000 genomes]
rs9912284	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9912552	0.81[ASN][1000 genomes]
rs9912571	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9912793	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9912894	0.88[ASN][1000 genomes]
rs9913488	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9913559	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914401	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs9914468	0.88[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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34245600-34257200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:34256600-34257200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr17:34256600-34257200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:34256800-34257200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:34256800-34257200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:34256800-34257200	Enhancers	Primary hematopoietic stem cells	blood
7	chr17:34256800-34257200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr17:34256800-34257200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr17:34256800-34257200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr17:34256800-34257200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:34256800-34257200	Enhancers	Fetal Heart	heart
12	chr17:34256800-34257200	Enhancers	Fetal Lung	lung
13	chr17:34256800-34257200	Enhancers	Thymus	Thymus
14	chr17:34256800-34257200	Flanking Active TSS	Dnd41	blood
15	chr17:34256800-34257200	Flanking Active TSS	GM12878-XiMat	blood
16	chr17:34256800-34257200	Flanking Active TSS	K562	blood
17	chr17:34256800-34257400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr17:34256800-34258000	Flanking Active TSS	Fetal Thymus	thymus
19	chr17:34257000-34257200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr17:34257000-34257200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
21	chr17:34257000-34257200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:34257000-34257200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr17:34257000-34257200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr17:34257000-34257200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr17:34257000-34257200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr17:34257000-34257200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:34257000-34257200	Active TSS	Brain Anterior Caudate	brain
28	chr17:34257000-34257200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
29	chr17:34257000-34257200	Bivalent Enhancer	Brain Hippocampus Middle	brain
30	chr17:34257000-34257200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr17:34257000-34257200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr17:34257000-34257200	Enhancers	Fetal Brain Male	brain
33	chr17:34257000-34257200	Active TSS	Fetal Brain Female	brain
34	chr17:34257000-34257200	Enhancers	Fetal Muscle Trunk	muscle
35	chr17:34257000-34257200	Enhancers	Fetal Muscle Leg	muscle
36	chr17:34257000-34257200	Enhancers	Hela-S3	cervix
37	chr17:34257000-34257200	Enhancers	NHLF	lung
38	chr17:34257000-34257400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr17:34257000-34257400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr17:34257000-34257400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr17:34257000-34257400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
42	chr17:34257000-34257400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:34257000-34257400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr17:34257000-34257400	Enhancers	Primary B cells from peripheral blood	blood
45	chr17:34257000-34257400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr17:34257000-34257400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr17:34257000-34257400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr17:34257000-34257400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr17:34257000-34257400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:34257000-34257400	Bivalent Enhancer	Adipose Nuclei	Adipose

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