Variant report

Variant	rs6880617
Chromosome Location	chr5:80868553-80868554
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10051895	1.00[AMR][1000 genomes]
rs59397259	1.00[AMR][1000 genomes]
rs60241617	1.00[AMR][1000 genomes]
rs6452420	1.00[AMR][1000 genomes]
rs6864432	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6867889	1.00[AMR][1000 genomes]
rs6885808	1.00[AMR][1000 genomes]
rs6898861	1.00[AMR][1000 genomes]
rs73132068	1.00[AMR][1000 genomes]
rs7720383	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7737633	1.00[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	esv2763467	chr5:80852616-80872981	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
2	chr5:80834800-80870000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr5:80835200-80872800	Weak transcription	Fetal Kidney	kidney
4	chr5:80835200-80875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr5:80835600-80876000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr5:80840800-80883400	Weak transcription	HSMM	muscle
7	chr5:80840800-80884600	Weak transcription	Ovary	ovary
8	chr5:80844200-80884600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:80846200-80880600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:80849000-80885600	Weak transcription	Left Ventricle	heart
11	chr5:80860200-80878800	Weak transcription	Esophagus	oesophagus
12	chr5:80862400-80874800	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:80862800-80878800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:80863800-80868800	Weak transcription	Fetal Stomach	stomach
15	chr5:80863800-80872000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:80864200-80870400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:80864200-80886400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:80864200-80894200	Weak transcription	Fetal Lung	lung
19	chr5:80864400-80868600	Weak transcription	Primary T cells from cord blood	blood
20	chr5:80864600-80894200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:80864800-80869000	Weak transcription	Thymus	Thymus
22	chr5:80864800-80875200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:80865000-80871600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:80865000-80875200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:80865200-80868600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:80865600-80868600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:80866800-80868600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:80867200-80868600	Weak transcription	Dnd41	blood
29	chr5:80867200-80870400	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:80867600-80869800	Weak transcription	Primary B cells from cord blood	blood
31	chr5:80867800-80870600	Strong transcription	Fetal Thymus	thymus
32	chr5:80867800-80875200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr5:80868200-80868800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:80868200-80868800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:80868200-80869400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:80868200-80871200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:80868400-80868800	Enhancers	HUVEC	blood vessel
38	chr5:80868400-80868800	Enhancers	NHDF-Ad	bronchial
39	chr5:80868400-80869400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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