Variant report

Variant	rs12264627
Chromosome Location	chr10:45500802-45500803
allele	C/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	chr10:45500747-45502374	GM12878	blood:	n/a	n/a
2	NFIC	chr10:45500603-45501240	HepG2	liver:	n/a	n/a
3	SP1	chr10:45500768-45501190	HepG2	liver:	n/a	n/a
4	POLR2A	chr10:45499672-45503840	K562	blood:	n/a	n/a
5	FOXA1	chr10:45500708-45501273	HepG2	liver:	n/a	chr10:45500780-45500792
6	FOXA1	chr10:45500649-45501298	HepG2	liver:	n/a	chr10:45500780-45500792
7	FOXA2	chr10:45500079-45501363	HepG2	liver:	n/a	chr10:45500780-45500792
8	FOXA1	chr10:45500686-45501288	HepG2	liver:	n/a	chr10:45500780-45500792
9	HNF4A	chr10:45500766-45501151	HepG2	liver:	n/a	chr10:45500889-45500902 chr10:45500889-45500903 chr10:45500890-45500903 chr10:45500890-45500902 chr10:45500890-45500902 chr10:45500888-45500903 chr10:45501037-45501049 chr10:45501036-45501049 chr10:45500890-45500903 chr10:45500890-45500902 chr10:45501037-45501049 chr10:45500888-45500903 chr10:45500890-45500903 chr10:45500887-45500905
10	FOXA1	chr10:45500775-45501231	HepG2	liver:	n/a	chr10:45500780-45500792
11	MYBL2	chr10:45500565-45501305	HepG2	liver:	n/a	n/a
12	EP300	chr10:45500792-45501151	HepG2	liver:	n/a	n/a
13	HNF4G	chr10:45500797-45501065	HepG2	liver:	n/a	chr10:45500889-45500904 chr10:45500889-45500902 chr10:45500889-45500903 chr10:45500890-45500903 chr10:45500890-45500902 chr10:45500890-45500902 chr10:45500888-45500903 chr10:45501037-45501049 chr10:45501036-45501049 chr10:45500890-45500903 chr10:45500890-45500902 chr10:45501037-45501049 chr10:45500888-45500903 chr10:45500890-45500903 chr10:45500887-45500905
14	ARID3A	chr10:45500124-45501192	HepG2	liver:	n/a	n/a
15	EP300	chr10:45500671-45501276	HepG2	liver:	n/a	chr10:45500783-45500793
16	NR2F2	chr10:45500752-45501227	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45499571..45502259-chr10:45742998..45745677,2	K562	blood:
2	chr10:45470718..45473140-chr10:45500575..45504463,3	K562	blood:

Variant related genes	Relation type
C10orf25	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10047345	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11239310	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11239337	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12257275	0.89[EUR][1000 genomes]
rs17157327	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17157328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2095088	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2104898	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4339993	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4573635	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56259997	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57046651	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59085162	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60581169	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61183370	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6593454	0.96[EUR][1000 genomes]
rs7080655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7095202	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72782417	0.92[EUR][1000 genomes]
rs73283471	0.92[EUR][1000 genomes]
rs7902918	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7915377	0.98[EUR][1000 genomes]
rs7918953	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv831848	chr10:45490176-45667670	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45497000-45511000	Weak transcription	Gastric	stomach
2	chr10:45497200-45504000	Weak transcription	Esophagus	oesophagus
3	chr10:45497400-45501200	Weak transcription	Aorta	Aorta
4	chr10:45497400-45501400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:45497400-45503800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr10:45497400-45504000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:45497400-45504000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:45497600-45502800	Weak transcription	Fetal Brain Male	brain
9	chr10:45497600-45503800	Weak transcription	Brain Substantia Nigra	brain
10	chr10:45497600-45504000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:45497800-45502200	Weak transcription	Right Ventricle	heart
12	chr10:45497800-45504000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr10:45498200-45503800	Weak transcription	Colon Smooth Muscle	Colon
14	chr10:45498200-45503800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr10:45498200-45504000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr10:45498400-45501200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr10:45498400-45503800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr10:45498600-45501400	Strong transcription	Fetal Lung	lung
19	chr10:45498800-45501200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr10:45498800-45501200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:45498800-45501200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr10:45498800-45501200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr10:45498800-45501600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr10:45499000-45501000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr10:45499000-45501200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr10:45499000-45501400	Strong transcription	Brain Germinal Matrix	brain
27	chr10:45499200-45501000	Enhancers	Small Intestine	intestine
28	chr10:45499200-45501400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:45499200-45502800	Enhancers	HepG2	liver
30	chr10:45499400-45501000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr10:45499400-45501200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:45499400-45501200	Strong transcription	Fetal Intestine Large	intestine
33	chr10:45499400-45501400	Strong transcription	Fetal Brain Female	brain
34	chr10:45499400-45501400	Strong transcription	HSMM	muscle
35	chr10:45499400-45502200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:45499400-45502400	Strong transcription	Thymus	Thymus
37	chr10:45499400-45502600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:45499400-45503800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr10:45499400-45504000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr10:45499400-45504000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr10:45499400-45504000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr10:45499400-45504000	Weak transcription	Fetal Stomach	stomach
43	chr10:45499400-45504000	Weak transcription	Ovary	ovary
44	chr10:45499400-45504000	Weak transcription	Psoas Muscle	Psoas
45	chr10:45499400-45504000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr10:45499400-45504000	Weak transcription	Spleen	Spleen
47	chr10:45499400-45511000	Weak transcription	Pancreas	Pancrea
48	chr10:45499600-45501000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr10:45499600-45501200	Enhancers	Liver	Liver
50	chr10:45499600-45501400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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