Variant report

Variant	rs2917543
Chromosome Location	chr5:80882806-80882807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10514226	0.88[JPT][hapmap]
rs10514228	0.88[JPT][hapmap]
rs10942273	1.00[JPT][hapmap]
rs1436497	0.88[JPT][hapmap]
rs2917541	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2917545	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972227	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972237	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972238	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972239	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2972241	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2973335	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2973336	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2973345	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2973346	0.86[CHB][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2973347	0.87[ASN][1000 genomes]
rs388560	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs406465	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs417684	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4283766	1.00[JPT][hapmap]
rs4519906	0.87[ASN][1000 genomes]
rs62366265	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs827074	0.81[AMR][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	nsv462221	chr5:80834138-80883110	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv598751	chr5:80834138-80883110	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525225	chr5:80849084-80883110	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80840800-80883400	Weak transcription	HSMM	muscle
2	chr5:80840800-80884600	Weak transcription	Ovary	ovary
3	chr5:80844200-80884600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:80849000-80885600	Weak transcription	Left Ventricle	heart
5	chr5:80864200-80886400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:80864200-80894200	Weak transcription	Fetal Lung	lung
7	chr5:80864600-80894200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:80869400-80887600	Weak transcription	Fetal Stomach	stomach
9	chr5:80869800-80886400	Weak transcription	Thymus	Thymus
10	chr5:80870000-80887600	Weak transcription	Aorta	Aorta
11	chr5:80870600-80883000	Weak transcription	Fetal Thymus	thymus
12	chr5:80870600-80886600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:80870800-80894200	Weak transcription	Primary B cells from cord blood	blood
14	chr5:80875600-80886800	Weak transcription	Brain Anterior Caudate	brain
15	chr5:80875600-80894000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:80875600-80894200	Weak transcription	GM12878-XiMat	blood
17	chr5:80876000-80885600	Weak transcription	Primary T cells from cord blood	blood
18	chr5:80876000-80894200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:80877000-80884800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:80877200-80885800	Weak transcription	Dnd41	blood
21	chr5:80879000-80887600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:80879200-80883200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:80880800-80883600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:80881200-80883400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:80881400-80886200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:80881400-80894200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:80882000-80883600	Enhancers	Stomach Mucosa	stomach
28	chr5:80882200-80886800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:80882400-80883400	Enhancers	Psoas Muscle	Psoas
30	chr5:80882800-80886200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:80882800-80888000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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