Variant report

Variant	rs56321721
Chromosome Location	chr8:87540026-87540027
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10093379	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10095129	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10956853	0.80[AMR][1000 genomes]
rs11782512	0.80[EUR][1000 genomes]
rs13251647	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1946939	0.82[EUR][1000 genomes]
rs1946940	0.82[EUR][1000 genomes]
rs3213911	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3883910	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3903247	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4961194	0.82[EUR][1000 genomes]
rs56102132	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56122533	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56268009	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56365416	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62510798	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62510806	0.87[EUR][1000 genomes]
rs62510845	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6471345	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6471351	0.80[AMR][1000 genomes]
rs6471352	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6471354	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6988601	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6994005	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7460251	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7460439	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7461624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7465350	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820697	0.82[EUR][1000 genomes]
rs7822494	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56321721	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87527400-87568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87527600-87542400	Weak transcription	Esophagus	oesophagus
3	chr8:87527600-87550200	Weak transcription	Aorta	Aorta
4	chr8:87527600-87562000	Weak transcription	Pancreas	Pancrea
5	chr8:87527600-87568200	Weak transcription	Gastric	stomach
6	chr8:87527600-87584000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:87527800-87541600	Weak transcription	Ovary	ovary
8	chr8:87527800-87542600	Weak transcription	A549	lung
9	chr8:87527800-87543400	Weak transcription	K562	blood
10	chr8:87527800-87546200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:87527800-87546200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:87527800-87547400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:87527800-87560000	Weak transcription	HSMMtube	muscle
14	chr8:87528000-87541600	Weak transcription	Fetal Brain Female	brain
15	chr8:87528000-87543200	Weak transcription	Fetal Kidney	kidney
16	chr8:87528000-87543200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:87528000-87550800	Weak transcription	Psoas Muscle	Psoas
18	chr8:87528000-87551400	Weak transcription	Right Ventricle	heart
19	chr8:87528000-87563800	Weak transcription	Hela-S3	cervix
20	chr8:87528000-87573600	Weak transcription	Stomach Mucosa	stomach
21	chr8:87528200-87541400	Weak transcription	Adipose Nuclei	Adipose
22	chr8:87528200-87541600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:87528200-87543200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:87528200-87543400	Weak transcription	Brain Angular Gyrus	brain
25	chr8:87528200-87543400	Weak transcription	Brain Anterior Caudate	brain
26	chr8:87528200-87543400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:87528200-87543400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:87528200-87544200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:87528200-87572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:87528400-87541000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:87528400-87541200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:87528400-87541600	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:87528400-87543400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:87528400-87543400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:87528400-87543400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:87528400-87550400	Weak transcription	HepG2	liver
37	chr8:87528400-87560400	Weak transcription	Thymus	Thymus
38	chr8:87528600-87543400	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:87528600-87543600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:87528600-87548600	Weak transcription	Fetal Brain Male	brain
41	chr8:87528600-87557200	Weak transcription	Small Intestine	intestine
42	chr8:87528600-87566000	Weak transcription	Spleen	Spleen
43	chr8:87529000-87543600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:87529400-87549000	Weak transcription	Brain Substantia Nigra	brain
45	chr8:87530800-87543400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr8:87531200-87543200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:87535200-87541000	Weak transcription	Placenta	Placenta
48	chr8:87535200-87543400	Weak transcription	Fetal Heart	heart
49	chr8:87535200-87543600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:87535400-87540600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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