Variant report

Variant	rs1322473
Chromosome Location	chr9:7979832-7979833
allele	C/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:10)

rs_ID	r²[population]
rs10815735	0.95[ASN][1000 genomes]
rs1322475	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1407466	0.94[EUR][1000 genomes]
rs1407470	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1535483	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1535484	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs1570324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7026049	0.94[EUR][1000 genomes]
rs7865817	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9299058	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033077	chr9:7358832-7990735	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539977	chr9:7358832-7990735	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv995116	chr9:7682729-8065192	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv8414	chr9:7827373-8511613	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1024456	chr9:7887727-8157591	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv539979	chr9:7887727-8157591	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv892216	chr9:7910934-7985651	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7972600-7982000	Enhancers	Fetal Thymus	thymus
2	chr9:7977000-7983000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:7977200-7985000	Enhancers	Fetal Heart	heart
4	chr9:7977600-7983000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:7978000-7982800	Weak transcription	Spleen	Spleen
6	chr9:7978200-7982800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr9:7978600-7981600	Weak transcription	Primary B cells from cord blood	blood
8	chr9:7978600-7983000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:7978600-7983000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:7978800-7981000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:7978800-7981000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr9:7978800-7981400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr9:7978800-7982000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr9:7978800-7982400	Weak transcription	Primary T cells from cord blood	blood
15	chr9:7978800-7982600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr9:7978800-7982800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr9:7979000-7980800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr9:7979000-7980800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr9:7979000-7980800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr9:7979000-7981000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr9:7979000-7981800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr9:7979000-7982800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr9:7979000-7983000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:7979200-7980600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr9:7979600-7980400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr9:7979600-7980400	Enhancers	Fetal Lung	lung
27	chr9:7979600-7981800	Enhancers	Brain Anterior Caudate	brain
28	chr9:7979600-7981800	Enhancers	Thymus	Thymus
29	chr9:7979600-7982000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:7979600-7982000	Enhancers	Dnd41	blood
31	chr9:7979600-7982200	Enhancers	Brain Substantia Nigra	brain
32	chr9:7979600-7984000	Enhancers	Primary B cells from peripheral blood	blood
33	chr9:7979600-7985800	Enhancers	Fetal Brain Male	brain
34	chr9:7979800-7981000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr9:7979800-7981200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr9:7979800-7982200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:7979800-7982200	Enhancers	Brain Cingulate Gyrus	brain
38	chr9:7979800-7983200	Enhancers	Brain Hippocampus Middle	brain

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