Variant report

Variant	rs1476246
Chromosome Location	chr8:20135506-20135507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11204107	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11778006	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11785891	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11786006	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11786102	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586239	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2132703	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2410635	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs729360	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs729361	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7834385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953074	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20126600-20136200	Enhancers	Fetal Thymus	thymus
2	chr8:20129600-20137800	Weak transcription	Fetal Intestine Large	intestine
3	chr8:20129600-20139400	Weak transcription	NH-A	brain
4	chr8:20129800-20136400	Enhancers	NHDF-Ad	bronchial
5	chr8:20131000-20136600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:20131200-20137600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:20131600-20136400	Enhancers	Primary T cells from cord blood	blood
8	chr8:20132000-20136000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:20132200-20138200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:20132800-20138600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:20133000-20137600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:20133000-20137600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:20133200-20135800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:20133200-20135800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:20133200-20136000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:20133200-20136600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:20133400-20135800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:20133400-20136000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:20133400-20137600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr8:20133400-20139400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:20133600-20135600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr8:20133600-20135800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr8:20133600-20135800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:20133600-20135800	Enhancers	NHLF	lung
25	chr8:20133600-20136000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:20133600-20136800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:20133600-20139400	Weak transcription	HSMMtube	muscle
28	chr8:20133800-20135600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr8:20133800-20135600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr8:20133800-20135800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr8:20133800-20136000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr8:20133800-20136000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr8:20133800-20136400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:20134000-20135600	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr8:20134000-20136000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:20134200-20135600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr8:20134200-20136000	Genic enhancers	Dnd41	blood
38	chr8:20134200-20136400	Enhancers	Thymus	Thymus
39	chr8:20134400-20135600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:20134600-20135600	Enhancers	Placenta	Placenta
41	chr8:20134600-20135600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr8:20134600-20136000	Enhancers	Adipose Nuclei	Adipose
43	chr8:20134800-20135600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr8:20134800-20136000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:20134800-20136800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
46	chr8:20134800-20139600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:20135000-20135600	Genic enhancers	HSMM	muscle
48	chr8:20135000-20139200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr8:20135200-20135600	Weak transcription	Fetal Brain Female	brain
50	chr8:20135200-20135600	Enhancers	Ovary	ovary

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