Variant report

Variant	rs7816499
Chromosome Location	chr8:59525125-59525126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10086130	0.95[ASN][1000 genomes]
rs10086457	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10093782	0.95[ASN][1000 genomes]
rs2054900	0.94[ASN][1000 genomes]
rs2228505	0.92[ASN][1000 genomes]
rs2279459	0.92[ASN][1000 genomes]
rs3816847	0.95[ASN][1000 genomes]
rs4738695	0.96[ASN][1000 genomes]
rs4738696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55658192	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60534391	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60780937	0.92[ASN][1000 genomes]
rs6991479	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6991644	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7841618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1031537	chr8:59482949-59536971	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59483800-59528000	Strong transcription	Dnd41	blood
3	chr8:59498600-59548400	Weak transcription	Stomach Mucosa	stomach
4	chr8:59500600-59528800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:59503000-59545400	Weak transcription	Esophagus	oesophagus
6	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:59507600-59525200	Weak transcription	Ovary	ovary
8	chr8:59507600-59545400	Weak transcription	Gastric	stomach
9	chr8:59508000-59538800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:59508000-59545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:59508200-59533800	Weak transcription	Small Intestine	intestine
12	chr8:59508200-59542200	Weak transcription	Aorta	Aorta
13	chr8:59508200-59542400	Weak transcription	Psoas Muscle	Psoas
14	chr8:59509000-59542200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:59509000-59543000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:59509000-59560400	Weak transcription	Brain Substantia Nigra	brain
17	chr8:59509800-59542400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:59510200-59526800	Weak transcription	Brain Angular Gyrus	brain
19	chr8:59510200-59527200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:59510200-59542400	Weak transcription	Lung	lung
21	chr8:59510200-59554800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:59510400-59551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:59510400-59570200	Weak transcription	Colonic Mucosa	Colon
24	chr8:59512000-59542200	Weak transcription	Right Ventricle	heart
25	chr8:59512200-59542200	Weak transcription	NH-A	brain
26	chr8:59512400-59540400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:59512800-59527000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:59512800-59534600	Weak transcription	Placenta	Placenta
29	chr8:59513000-59533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:59513000-59541600	Weak transcription	Brain Germinal Matrix	brain
31	chr8:59513000-59542000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:59513000-59561200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:59516000-59535400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:59517800-59525200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:59518400-59525200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:59519000-59526000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr8:59519800-59527200	Strong transcription	Primary T cells from cord blood	blood
38	chr8:59520200-59535200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:59520200-59542200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:59520400-59533800	Weak transcription	Liver	Liver
41	chr8:59520400-59534600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:59520600-59525200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:59520600-59535400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:59520600-59541600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:59520600-59554600	Weak transcription	HMEC	breast
46	chr8:59520800-59535400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr8:59521000-59542800	Weak transcription	Hela-S3	cervix
48	chr8:59521200-59533800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:59521400-59526800	Weak transcription	Brain Anterior Caudate	brain
50	chr8:59521400-59533400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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