Variant report

Variant	rs12549833
Chromosome Location	chr8:64095129-64095130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:64094662-64095365	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:64095097-64095164	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:64082275..64083966-chr8:64093925..64095501,2	MCF-7	breast:
2	chr8:64093853..64095478-chr8:64111606..64113987,2	K562	blood:
3	chr8:64093516..64098313-chr8:64099760..64104563,5	K562	blood:
4	chr8:64094650..64096698-chr8:64098116..64100145,2	K562	blood:

Variant related genes	Relation type
YTHDF3	TF binding region
ENSG00000185728	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10957275	0.88[EUR][1000 genomes]
rs12056447	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12542182	0.88[EUR][1000 genomes]
rs12542741	0.87[EUR][1000 genomes]
rs12547669	0.87[EUR][1000 genomes]
rs12550222	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12550793	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12677153	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12678231	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1975246	0.82[EUR][1000 genomes]
rs2241753	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34803356	0.87[EUR][1000 genomes]
rs3857972	0.89[EUR][1000 genomes]
rs3929126	0.89[EUR][1000 genomes]
rs4601308	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4737633	0.81[EUR][1000 genomes]
rs4739053	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4739066	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4739068	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61223024	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6983011	0.89[EUR][1000 genomes]
rs7000495	0.89[EUR][1000 genomes]
rs7000788	0.89[EUR][1000 genomes]
rs7000927	0.89[EUR][1000 genomes]
rs7001014	0.89[EUR][1000 genomes]
rs7011111	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73254967	0.89[EUR][1000 genomes]
rs73254968	0.89[EUR][1000 genomes]
rs73684686	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73684689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73686707	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73686709	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643383	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9643384	0.89[EUR][1000 genomes]
rs9643556	0.89[EUR][1000 genomes]
rs9643557	0.89[EUR][1000 genomes]
rs9643558	0.89[EUR][1000 genomes]
rs9643559	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][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	nsv890965	chr8:64006201-64104092	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv890966	chr8:64073650-64099240	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv831342	chr8:64084331-64294941	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64082000-64098800	Weak transcription	Esophagus	oesophagus
2	chr8:64082000-64099000	Weak transcription	Gastric	stomach
3	chr8:64082200-64098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:64082200-64098600	Weak transcription	Lung	lung
5	chr8:64082400-64098800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:64082600-64098600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:64082600-64098600	Weak transcription	Colonic Mucosa	Colon
8	chr8:64082800-64098800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:64083000-64098600	Weak transcription	Fetal Kidney	kidney
10	chr8:64083400-64098600	Weak transcription	HSMMtube	muscle
11	chr8:64083400-64098800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:64083600-64098600	Weak transcription	Fetal Brain Male	brain
13	chr8:64083600-64098800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:64083600-64098800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:64084000-64098800	Weak transcription	Brain Germinal Matrix	brain
16	chr8:64084200-64096200	Weak transcription	Brain Substantia Nigra	brain
17	chr8:64084200-64098600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:64084200-64098800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:64084200-64102200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:64084400-64097200	Weak transcription	NHLF	lung
21	chr8:64084400-64098600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:64084400-64098600	Weak transcription	Brain Anterior Caudate	brain
23	chr8:64084400-64098600	Weak transcription	Ovary	ovary
24	chr8:64084400-64098800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:64084400-64099000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:64086000-64098600	Weak transcription	Spleen	Spleen
27	chr8:64086000-64099000	Weak transcription	Right Ventricle	heart
28	chr8:64086400-64099200	Weak transcription	Stomach Mucosa	stomach
29	chr8:64086600-64098800	Weak transcription	Fetal Brain Female	brain
30	chr8:64086600-64098800	Weak transcription	Pancreas	Pancrea
31	chr8:64086600-64099000	Weak transcription	Aorta	Aorta
32	chr8:64086600-64099200	Weak transcription	Psoas Muscle	Psoas
33	chr8:64086800-64099000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:64087200-64096400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:64087200-64098600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:64087200-64098600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:64087200-64098800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:64087400-64095200	Weak transcription	HepG2	liver
39	chr8:64087400-64098600	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:64088200-64098600	Weak transcription	Primary T cells from cord blood	blood
41	chr8:64088600-64098800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr8:64088800-64098600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:64090000-64096200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr8:64090000-64096200	Weak transcription	HMEC	breast
45	chr8:64090000-64108200	Weak transcription	Fetal Heart	heart
46	chr8:64090200-64095600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:64090200-64096000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:64090200-64096400	Weak transcription	Adipose Nuclei	Adipose
49	chr8:64090400-64095200	Weak transcription	Primary B cells from cord blood	blood
50	chr8:64090400-64096200	Weak transcription	K562	blood

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