Variant report

Variant	rs6898782
Chromosome Location	chr5:80875330-80875331
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80872758..80875728-chr5:80879949..80882376,2	K562	blood:
2	chr5:80874625..80877374-chr5:81570400..81571959,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1023747	0.85[CHB][hapmap]
rs11957810	0.85[CHB][hapmap]
rs13159526	0.82[CHB][hapmap]
rs1347597	0.85[CHB][hapmap]
rs1436499	0.85[CHB][hapmap];0.97[ASN][1000 genomes]
rs2043646	0.85[CHB][hapmap]
rs2917540	0.82[CHB][hapmap]
rs2917542	0.85[CHB][hapmap];0.90[ASN][1000 genomes]
rs2917544	0.94[ASN][1000 genomes]
rs2972235	0.82[CHB][hapmap]
rs2972236	0.82[CHB][hapmap]
rs2972243	0.82[CHB][hapmap]
rs2973338	0.97[ASN][1000 genomes]
rs2973340	0.82[CHB][hapmap]
rs2973344	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2973349	0.82[CHB][hapmap]
rs34359067	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs374479	0.85[CHB][hapmap]
rs380946	0.85[CHB][hapmap]
rs382297	0.85[CHB][hapmap];1.00[ASN][1000 genomes]
rs384433	0.85[CHB][hapmap]
rs385716	0.85[CHB][hapmap]
rs386874	1.00[ASN][1000 genomes]
rs390171	0.85[CHB][hapmap]
rs399104	0.85[CHB][hapmap]
rs403777	0.85[CHB][hapmap]
rs406292	0.85[CHB][hapmap]
rs413472	0.85[CHB][hapmap];1.00[ASN][1000 genomes]
rs418033	0.85[CHB][hapmap]
rs420202	0.85[CHB][hapmap]
rs420412	0.85[CHB][hapmap]
rs421348	0.85[CHB][hapmap]
rs435901	0.85[CHB][hapmap]
rs437417	0.85[CHB][hapmap]
rs446064	0.85[CHB][hapmap]
rs447574	0.82[CHB][hapmap]
rs452314	0.84[CHB][hapmap]
rs453068	0.85[CHB][hapmap]
rs454487	0.85[CHB][hapmap]
rs4607338	0.82[CHB][hapmap]
rs585558	0.85[CHB][hapmap]
rs724913	0.85[CHB][hapmap];0.97[ASN][1000 genomes]
rs827065	0.85[CHB][hapmap]
rs863772	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80835600-80876000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr5:80840800-80883400	Weak transcription	HSMM	muscle
3	chr5:80840800-80884600	Weak transcription	Ovary	ovary
4	chr5:80844200-80884600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:80846200-80880600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:80849000-80885600	Weak transcription	Left Ventricle	heart
7	chr5:80860200-80878800	Weak transcription	Esophagus	oesophagus
8	chr5:80862800-80878800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:80864200-80886400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:80864200-80894200	Weak transcription	Fetal Lung	lung
11	chr5:80864600-80894200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:80869200-80875400	Weak transcription	Primary T cells from cord blood	blood
13	chr5:80869400-80887600	Weak transcription	Fetal Stomach	stomach
14	chr5:80869800-80886400	Weak transcription	Thymus	Thymus
15	chr5:80870000-80887600	Weak transcription	Aorta	Aorta
16	chr5:80870600-80883000	Weak transcription	Fetal Thymus	thymus
17	chr5:80870600-80886600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:80870800-80894200	Weak transcription	Primary B cells from cord blood	blood
19	chr5:80871200-80876600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:80871400-80876400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:80874400-80875400	Enhancers	Primary hematopoietic stem cells	blood
22	chr5:80874600-80875400	Enhancers	Dnd41	blood
23	chr5:80874800-80875400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:80874800-80875400	Enhancers	Brain Cingulate Gyrus	brain
25	chr5:80874800-80875600	Enhancers	Brain Hippocampus Middle	brain
26	chr5:80874800-80875600	Enhancers	Brain Substantia Nigra	brain
27	chr5:80874800-80876000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr5:80875000-80876000	Enhancers	HUVEC	blood vessel
29	chr5:80875200-80875400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr5:80875200-80875600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:80875200-80875600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:80875200-80875600	Enhancers	Brain Angular Gyrus	brain
33	chr5:80875200-80875600	Enhancers	Brain Anterior Caudate	brain
34	chr5:80875200-80875600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr5:80875200-80875600	Enhancers	GM12878-XiMat	blood
36	chr5:80875200-80875600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr5:80875200-80875800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr5:80875200-80875800	Enhancers	K562	blood
39	chr5:80875200-80876000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr5:80875200-80876000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:80875200-80876000	Enhancers	Fetal Brain Female	brain
42	chr5:80875200-80876400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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