Variant report

Variant	rs60325517
Chromosome Location	chr8:19484342-19484343
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19482760..19485283-chr8:19485806..19488434,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10101761	0.92[AMR][1000 genomes]
rs13248137	1.00[ASN][1000 genomes]
rs13250084	1.00[ASN][1000 genomes]
rs13260856	0.84[EUR][1000 genomes]
rs17128707	1.00[ASN][1000 genomes]
rs17408029	1.00[ASN][1000 genomes]
rs17480622	1.00[ASN][1000 genomes]
rs28853697	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34520389	1.00[ASN][1000 genomes]
rs34561584	1.00[ASN][1000 genomes]
rs34632038	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59244617	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59495894	1.00[ASN][1000 genomes]
rs61678332	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992213	1.00[ASN][1000 genomes]
rs7815969	1.00[ASN][1000 genomes]
rs7840615	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1015448	chr8:19474715-19520367	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19478200-19484800	Weak transcription	Left Ventricle	heart
2	chr8:19479400-19485000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:19479800-19484400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr8:19479800-19485200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr8:19480000-19484800	Enhancers	Primary T cells from cord blood	blood
6	chr8:19480000-19485800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:19481200-19484400	Enhancers	Hela-S3	cervix
8	chr8:19481200-19484800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:19481400-19486000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:19481400-19489800	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:19481600-19489400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:19481800-19485400	Enhancers	Osteobl	bone
13	chr8:19481800-19486400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:19481800-19487400	Weak transcription	Brain Anterior Caudate	brain
15	chr8:19482000-19520000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:19482200-19486600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:19482200-19486800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:19482400-19486000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:19482600-19484600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:19482800-19484400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:19482800-19484600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr8:19482800-19485400	Enhancers	Primary B cells from cord blood	blood
23	chr8:19482800-19485400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:19482800-19486800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr8:19482800-19488000	Weak transcription	Thymus	Thymus
26	chr8:19483000-19484800	Enhancers	Fetal Lung	lung
27	chr8:19483200-19484400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:19483200-19486400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:19483200-19492600	Weak transcription	Right Ventricle	heart
30	chr8:19483200-19495600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:19483200-19495600	Weak transcription	Right Atrium	heart
32	chr8:19483400-19485000	Weak transcription	Placenta	Placenta
33	chr8:19483400-19495200	Weak transcription	Brain Substantia Nigra	brain
34	chr8:19483800-19484400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:19483800-19484600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:19483800-19485200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:19483800-19485200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:19483800-19485200	Enhancers	NHLF	lung
39	chr8:19483800-19485400	Enhancers	NHDF-Ad	bronchial
40	chr8:19483800-19485800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr8:19484000-19485200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:19484000-19485600	Enhancers	HUVEC	blood vessel
43	chr8:19484000-19486200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:19484200-19484800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:19484200-19484800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:19484200-19484800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:19484200-19485000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:19484200-19485000	Flanking Active TSS	A549	lung
49	chr8:19484200-19485000	Enhancers	NH-A	brain

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