Variant report

Variant	rs60309480
Chromosome Location	chr8:2036949-2036950
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56878714	1.00[AMR][1000 genomes]
rs58524877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59224989	1.00[AMR][1000 genomes]
rs61401600	1.00[AMR][1000 genomes]
rs61732775	1.00[AMR][1000 genomes]
rs6991362	0.80[AFR][1000 genomes]
rs73538631	1.00[AMR][1000 genomes]
rs73541948	1.00[AMR][1000 genomes]
rs73548331	1.00[AMR][1000 genomes]
rs73548357	1.00[AMR][1000 genomes]
rs73549949	1.00[AMR][1000 genomes]
rs73549959	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2023600-2060800	Weak transcription	Spleen	Spleen
2	chr8:2023600-2067000	Weak transcription	Right Atrium	heart
3	chr8:2025000-2049200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:2027600-2038400	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:2027800-2048200	Weak transcription	Psoas Muscle	Psoas
6	chr8:2029000-2044000	Weak transcription	Right Ventricle	heart
7	chr8:2029800-2039000	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:2032400-2039200	Strong transcription	Left Ventricle	heart
9	chr8:2034600-2039400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:2034600-2040800	Weak transcription	Pancreas	Pancrea
11	chr8:2034600-2074200	Weak transcription	Fetal Heart	heart
12	chr8:2034800-2050800	Weak transcription	Brain Anterior Caudate	brain
13	chr8:2035000-2037600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:2035000-2039000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:2035000-2039000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:2035000-2045400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:2035000-2049000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:2035000-2051800	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:2035000-2075000	Weak transcription	Brain Angular Gyrus	brain
20	chr8:2035200-2037600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:2035200-2037600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:2035200-2039000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:2035200-2039000	Weak transcription	Fetal Thymus	thymus
24	chr8:2035200-2039400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:2035200-2049200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:2035200-2054000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:2035800-2037600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:2035800-2037800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:2036600-2037800	Weak transcription	Fetal Muscle Leg	muscle

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