Variant report

Variant	rs12071493
Chromosome Location	chr1:226966372-226966373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr1:226966111-226966847	MCF10A-Er-Src	breast:	n/a	n/a
2	KAP1	chr1:226966327-226966766	HEK293	kidney:	n/a	n/a
3	SIN3AK20	chr1:226966271-226966650	PANC-1	pancreas:	n/a	n/a
4	RAD21	chr1:226966367-226966685	Hela-S3	cervix:	n/a	n/a
5	BCL3	chr1:226966346-226966571	GM12878	blood:	n/a	n/a
6	SIN3AK20	chr1:226966315-226966644	SK-N-SH	brain:	n/a	n/a
7	MYC	chr1:226966350-226966617	HUVEC	blood vessel:	n/a	n/a
8	USF2	chr1:226966277-226966551	Hela-S3	cervix:	n/a	n/a
9	STAT3	chr1:226966256-226966764	MCF10A-Er-Src	breast:	n/a	n/a
10	SMC3	chr1:226966351-226966756	Hela-S3	cervix:	n/a	n/a
11	MAX	chr1:226966273-226966751	SK-N-SH	brain:	n/a	n/a
12	REST	chr1:226966195-226966713	PFSK-1	brain:	n/a	n/a
13	PBX3	chr1:226966235-226966869	SK-N-SH	brain:	n/a	n/a
14	RAD21	chr1:226966306-226966681	IMR90	lung:	n/a	n/a
15	FOS	chr1:226966267-226966723	MCF10A-Er-Src	breast:	n/a	n/a
16	CEBPB	chr1:226966096-226966679	IMR90	lung:	n/a	n/a
17	MAX	chr1:226966229-226966672	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr1:226966303-226966769	PANC-1	pancreas:	n/a	n/a
19	FOXP2	chr1:226966310-226966617	PFSK-1	brain:	n/a	n/a
20	SIN3AK20	chr1:226966215-226966680	PFSK-1	brain:	n/a	n/a
21	STAT3	chr1:226966272-226966720	Hela-S3	cervix:	n/a	n/a
22	STAT3	chr1:226966264-226966758	MCF10A-Er-Src	breast:	n/a	n/a
23	EP300	chr1:226966358-226966764	Hela-S3	cervix:	n/a	n/a
24	SIN3AK20	chr1:226966266-226966635	PFSK-1	brain:	n/a	n/a
25	FOS	chr1:226966197-226966779	MCF10A-Er-Src	breast:	n/a	n/a
26	PBX3	chr1:226966247-226966822	SK-N-SH	brain:	n/a	n/a
27	MAX	chr1:226966286-226966715	Hela-S3	cervix:	n/a	n/a
28	REST	chr1:226966314-226966595	PANC-1	pancreas:	n/a	n/a
29	FOS	chr1:226966221-226966779	MCF10A-Er-Src	breast:	n/a	n/a
30	MYC	chr1:226966155-226966847	MCF10A-Er-Src	breast:	n/a	n/a
31	MAX	chr1:226966268-226966689	SK-N-SH	brain:	n/a	n/a
32	CHD2	chr1:226966366-226966675	Hela-S3	cervix:	n/a	n/a
33	MXI1	chr1:226966323-226966672	Hela-S3	cervix:	n/a	n/a
34	TAF1	chr1:226966275-226966701	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr1:226966338-226966630	U87	brain:	n/a	n/a
36	CEBPB	chr1:226966193-226966695	Hela-S3	cervix:	n/a	n/a
37	STAT3	chr1:226966216-226966785	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr1:226966371-226966680	MCF10A-Er-Src	breast:	n/a	n/a
39	GATA3	chr1:226966258-226966889	SK-N-SH	brain:	n/a	n/a
40	KAP1	chr1:226966244-226966716	U2OS	brain:	n/a	n/a
41	SIN3AK20	chr1:226966208-226966791	PANC-1	pancreas:	n/a	n/a
42	MAX	chr1:226966327-226966577	K562	blood:	n/a	n/a
43	MAX	chr1:226966270-226966771	Hela-S3	cervix:	n/a	n/a
44	FOXA1	chr1:226966289-226966521	T-47D	breast:	n/a	n/a
45	FOS	chr1:226966307-226966596	HUVEC	blood vessel:	n/a	n/a
46	FOS	chr1:226966195-226966758	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr1:226966182-226966891	PFSK-1	brain:	n/a	n/a
48	STAT3	chr1:226966212-226966834	MCF10A-Er-Src	breast:	n/a	chr1:226966788-226966799
49	MAFK	chr1:226966340-226966731	IMR90	lung:	n/a	n/a
50	ZNF263	chr1:226966363-226966747	HEK293-T-REx	kidney:	n/a	n/a

No data

Variant related genes	Relation type
RPS27P5	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12093806	1.00[AMR][1000 genomes]
rs12096709	1.00[AMR][1000 genomes]
rs12098082	1.00[AMR][1000 genomes]
rs6664456	0.84[AFR][1000 genomes]
rs6686798	1.00[AMR][1000 genomes]
rs7526563	0.84[AFR][1000 genomes]
rs7533208	0.84[AFR][1000 genomes]
rs7535863	0.84[AFR][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	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226960600-226969600	Weak transcription	Brain Anterior Caudate	brain
2	chr1:226960600-226970000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:226961600-226969200	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:226961800-226967200	Weak transcription	GM12878-XiMat	blood
5	chr1:226965400-226967800	Enhancers	Colon Smooth Muscle	Colon
6	chr1:226965600-226967000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:226965600-226967200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:226965600-226967600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:226965600-226967600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr1:226965800-226966800	Enhancers	Ovary	ovary
11	chr1:226965800-226967000	Enhancers	Lung	lung
12	chr1:226965800-226967200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:226965800-226967200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:226965800-226967400	Enhancers	NHDF-Ad	bronchial
15	chr1:226966000-226966600	Weak transcription	Thymus	Thymus
16	chr1:226966000-226967000	Enhancers	Adipose Nuclei	Adipose
17	chr1:226966000-226967200	Enhancers	Osteobl	bone
18	chr1:226966000-226967400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:226966000-226967800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:226966200-226966400	Enhancers	Hela-S3	cervix
21	chr1:226966200-226966600	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:226966200-226966600	Weak transcription	Left Ventricle	heart
23	chr1:226966200-226966800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:226966200-226966800	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:226966200-226966800	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:226966200-226967000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:226966200-226967000	Enhancers	Stomach Mucosa	stomach
28	chr1:226966200-226967000	Enhancers	HUVEC	blood vessel
29	chr1:226966200-226967200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:226966200-226967200	Enhancers	NH-A	brain
31	chr1:226966200-226967400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:226966200-226967400	Enhancers	NHEK	skin
33	chr1:226966200-226967600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr1:226966200-226967600	Enhancers	Stomach Smooth Muscle	stomach
35	chr1:226966200-226967600	Enhancers	HMEC	breast
36	chr1:226966200-226967600	Enhancers	HSMM	muscle

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