Variant report

Variant	rs56122533
Chromosome Location	chr8:87530056-87530057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXP2	chr8:87529897-87530336	SK-N-MC	brain:	n/a	n/a
2	MXI1	chr8:87529969-87530277	GM12878	blood:	n/a	n/a
3	CEBPB	chr8:87530053-87530265	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87519549..87521500-chr8:87528535..87531458,3	K562	blood:
2	chr8:87528642..87530969-chr8:87544155..87546227,2	K562	blood:
3	chr8:87519972..87522563-chr8:87528535..87531475,3	K562	blood:
4	chr8:87481910..87484178-chr8:87529355..87531387,2	MCF-7	breast:
5	chr8:87522945..87528128-chr8:87528640..87532545,5	K562	blood:

No data

Variant related genes	Relation type
RMDN1	TF binding region
ENSG00000085719	Chromatin interaction
ENSG00000176623	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10088389	0.80[AMR][1000 genomes]
rs10093379	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10095129	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10956853	0.83[AMR][1000 genomes]
rs11782512	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13251647	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1946939	0.82[EUR][1000 genomes]
rs1946940	0.82[EUR][1000 genomes]
rs3213911	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3883910	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3903247	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4961194	0.83[EUR][1000 genomes]
rs56102132	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56268009	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56321721	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56365416	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62510798	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62510806	0.88[EUR][1000 genomes]
rs62510845	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471345	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6471349	0.80[AMR][1000 genomes]
rs6471351	0.83[AMR][1000 genomes]
rs6471352	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6471354	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6981299	0.80[AMR][1000 genomes]
rs6988601	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6994005	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7460251	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7460439	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7461624	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7465350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7820697	0.83[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
rs56122533	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 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	chr8:87527600-87530400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:87527600-87530600	Enhancers	Primary hematopoietic stem cells	blood
4	chr8:87527600-87534600	Weak transcription	Placenta	Placenta
5	chr8:87527600-87534800	Weak transcription	HSMM	muscle
6	chr8:87527600-87535000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:87527600-87539400	Weak transcription	Lung	lung
8	chr8:87527600-87542400	Weak transcription	Esophagus	oesophagus
9	chr8:87527600-87550200	Weak transcription	Aorta	Aorta
10	chr8:87527600-87562000	Weak transcription	Pancreas	Pancrea
11	chr8:87527600-87568200	Weak transcription	Gastric	stomach
12	chr8:87527600-87584000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:87527800-87535400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:87527800-87541600	Weak transcription	Ovary	ovary
15	chr8:87527800-87542600	Weak transcription	A549	lung
16	chr8:87527800-87543400	Weak transcription	K562	blood
17	chr8:87527800-87546200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:87527800-87546200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:87527800-87547400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:87527800-87560000	Weak transcription	HSMMtube	muscle
21	chr8:87528000-87530400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:87528000-87534400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:87528000-87534800	Weak transcription	Liver	Liver
24	chr8:87528000-87535000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:87528000-87535000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:87528000-87539200	Weak transcription	Brain Germinal Matrix	brain
27	chr8:87528000-87541600	Weak transcription	Fetal Brain Female	brain
28	chr8:87528000-87543200	Weak transcription	Fetal Kidney	kidney
29	chr8:87528000-87543200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:87528000-87550800	Weak transcription	Psoas Muscle	Psoas
31	chr8:87528000-87551400	Weak transcription	Right Ventricle	heart
32	chr8:87528000-87563800	Weak transcription	Hela-S3	cervix
33	chr8:87528000-87573600	Weak transcription	Stomach Mucosa	stomach
34	chr8:87528200-87530400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:87528200-87531800	Weak transcription	Fetal Intestine Small	intestine
36	chr8:87528200-87534200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:87528200-87534200	Weak transcription	HMEC	breast
38	chr8:87528200-87534400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:87528200-87534400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:87528200-87534600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:87528200-87534600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:87528200-87534800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr8:87528200-87534800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:87528200-87534800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:87528200-87534800	Weak transcription	Fetal Lung	lung
46	chr8:87528200-87535400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr8:87528200-87535400	Weak transcription	Dnd41	blood
48	chr8:87528200-87535600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:87528200-87537000	Weak transcription	Fetal Stomach	stomach
50	chr8:87528200-87537200	Weak transcription	Fetal Thymus	thymus

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